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


128 records found for search term Mesp1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
156322594CV2166774single nucleotide variantNM_018670.4(MESP1):c.724-8C>Tnot provided [RCV003029276]likely benign158975023589750235Humanname
405202330CV3143558single nucleotide variantNM_018670.4(MESP1):c.723+12C>Tnot provided [RCV003844544]likely benign158975049789750497Humanname
152067136CV1529140single nucleotide variantNM_018670.4(MESP1):c.45C>T (p.Leu15=)MESP1-related disorder [RCV003960890]|not provided [RCV002168819]benign158975118789751187Humanname , trait , alternate_id
152031667CV1546091single nucleotide variantNM_018670.4(MESP1):c.204C>T (p.Ser68=)MESP1-related disorder [RCV003933467]|not provided [RCV002124607]benign158975102889751028Humanname , trait , alternate_id
152129424CV1610235single nucleotide variantNM_018670.4(MESP1):c.153C>A (p.Pro51=)not provided [RCV002136742]benign158975107989751079Humanname
152092914CV1631879single nucleotide variantNM_018670.4(MESP1):c.174A>C (p.Pro58=)MESP1-related disorder [RCV003978716]|not provided [RCV002132268]benign158975105889751058Humanname , trait , alternate_id
152093838CV1634280single nucleotide variantNM_018670.4(MESP1):c.234C>T (p.Arg78=)not provided [RCV002213091]likely benign158975099889750998Humanname
152084066CV1648010single nucleotide variantNM_018670.4(MESP1):c.147C>T (p.Asp49=)not provided [RCV002076753]benign158975108589751085Humanname
156122578CV1933511single nucleotide variantNM_018670.4(MESP1):c.264T>C (p.Ser88=)not provided [RCV002640380]likely benign158975096889750968Humanname
155928558CV2224397single nucleotide variantNM_018670.4(MESP1):c.20C>T (p.Pro7Leu)not specified [RCV004098006]uncertain significance158975121289751212Humanname
401755778CV2728691single nucleotide variantNM_018670.4(MESP1):c.19C>T (p.Pro7Ser)not specified [RCV004333530]uncertain significance158975121389751213Humanname
405122724CV3020939single nucleotide variantNM_018670.4(MESP1):c.120A>G (p.Pro40=)not provided [RCV003700933]likely benign158975111289751112Humanname
405694111CV3282065single nucleotide variantNM_018670.4(MESP1):c.20C>A (p.Pro7Gln)not specified [RCV004424217]uncertain significance158975121289751212Humanname
597831347CV3739988single nucleotide variantNM_018670.4(MESP1):c.165C>T (p.Pro55=)not provided [RCV005062686]likely benign158975106789751067Humanname
150412345CV1196151duplicationNM_018670.4(MESP1):c.158dup (p.Ser54fs)MESP1-related disorder [RCV003980713]|not provided [RCV001574050]benign|likely benign158975107389751074Humanname , trait , alternate_id
151878312CV1383439deletionNM_018670.4(MESP1):c.271del (p.Glu91fs)not provided [RCV001907345]uncertain significance158975096189750961Humanname
151844803CV1501516single nucleotide variantNM_018670.4(MESP1):c.97G>A (p.Gly33Ser)not provided [RCV002015771]|not specified [RCV004045990]uncertain significance158975113589751135Humanname
152139697CV1608296single nucleotide variantNM_018670.4(MESP1):c.657G>T (p.Pro219=)MESP1-related disorder [RCV003984177]|not provided [RCV002200418]benign158975057589750575Humanname , trait , alternate_id
152033444CV1610362single nucleotide variantNM_018670.4(MESP1):c.687T>G (p.Pro229=)MESP1-related disorder [RCV003984211]|not provided [RCV002124934]benign158975054589750545Humanname , trait , alternate_id
152158061CV1630686single nucleotide variantNM_018670.4(MESP1):c.33G>C (p.Glu11Asp)MESP1-related disorder [RCV003913709]|not provided [RCV002122713]benign158975119989751199Humanname , trait , alternate_id
152032146CV1643012single nucleotide variantNM_018670.4(MESP1):c.726C>G (p.Leu242=)not provided [RCV002204910]likely benign158975022589750225Humanname
152073120CV1650630single nucleotide variantNM_018670.4(MESP1):c.345C>T (p.Pro115=)MESP1-related disorder [RCV003968725]|not provided [RCV002169551]benign|likely benign158975088789750887Humanname , trait , alternate_id
152152341CV1664465single nucleotide variantNM_018670.4(MESP1):c.357C>T (p.Ser119=)not provided [RCV002158378]likely benign158975087589750875Humanname
156366914CV1915585single nucleotide variantNM_018670.4(MESP1):c.624C>T (p.Pro208=)not provided [RCV002633083]likely benign158975060889750608Humanname
156133053CV2113123single nucleotide variantNM_018670.4(MESP1):c.627A>G (p.Gly209=)not provided [RCV002928275]likely benign158975060589750605Humanname
156018720CV2114695single nucleotide variantNM_018670.4(MESP1):c.759C>G (p.Thr253=)MESP1-related disorder [RCV003963418]|not provided [RCV002909506]benign|likely benign158975019289750192Humanname , trait , alternate_id
155967321CV2216832single nucleotide variantNM_018670.4(MESP1):c.68G>C (p.Arg23Pro)not provided [RCV003546870]|not specified [RCV004083262]uncertain significance158975116489751164Humanname
405095529CV2944019single nucleotide variantNM_018670.4(MESP1):c.561C>T (p.Arg187=)not provided [RCV003665614]likely benign158975067189750671Humanname
405294941CV3214979single nucleotide variantNM_018670.4(MESP1):c.465T>G (p.Gly155=)MESP1-related disorder [RCV003936835]likely benign158975076789750767Humanname , trait , alternate_id
408367033CV3511096single nucleotide variantNM_018670.4(MESP1):c.753G>A (p.Leu251=)MESP1-related disorder [RCV004757725]likely benign158975019889750198Humanname , trait , alternate_id
597678458CV3556739single nucleotide variantNM_018670.4(MESP1):c.47C>T (p.Ser16Phe)not specified [RCV004830562]uncertain significance158975118589751185Humanname
597868730CV3838907single nucleotide variantNM_018670.4(MESP1):c.561C>A (p.Arg187=)not provided [RCV005176203]likely benign158975067189750671Humanname
597917803CV3842150single nucleotide variantNM_018670.4(MESP1):c.65C>G (p.Thr22Ser)not provided [RCV005183825]likely benign158975116789751167Humanname
597871343CV3849308single nucleotide variantNM_018670.4(MESP1):c.468C>T (p.Asp156=)not provided [RCV005197489]likely benign158975076489750764Humanname
151883149CV1384085single nucleotide variantNM_018670.4(MESP1):c.244G>C (p.Gly82Arg)not provided [RCV001886873]|not specified [RCV004039088]uncertain significance158975098889750988Humanname
151794156CV1506055single nucleotide variantNM_018670.4(MESP1):c.209G>A (p.Gly70Asp)not provided [RCV001917105]uncertain significance158975102389751023Humanname
152159142CV1544342single nucleotide variantNM_018670.4(MESP1):c.157G>C (p.Ala53Pro)MESP1-related disorder [RCV003978688]|not provided [RCV002122882]benign158975107589751075Humanname , trait , alternate_id
152138725CV1565207single nucleotide variantNM_018670.4(MESP1):c.100C>G (p.Arg34Gly)MESP1-related disorder [RCV003911331]|not provided [RCV002083871]benign158975113289751132Humanname , trait , alternate_id
152033501CV1572862single nucleotide variantNM_018670.4(MESP1):c.182T>G (p.Leu61Arg)MESP1-related disorder [RCV003978532]|not provided [RCV002187101]benign158975105089751050Humanname , trait , alternate_id
153346036CV1691545single nucleotide variantNM_018670.4(MESP1):c.139C>G (p.Pro47Ala)Congenital heart disease [RCV002273028]|not provided [RCV003728060]uncertain significance158975109389751093Human1name
156351695CV1965489single nucleotide variantNM_018670.4(MESP1):c.259G>A (p.Ala87Thr)not provided [RCV002581107]uncertain significance158975097389750973Humanname
155993351CV2095605single nucleotide variantNM_018670.4(MESP1):c.241A>G (p.Ser81Gly)MESP1-related disorder [RCV003906285]|not provided [RCV002908266]benign158975099189750991Humanname , trait , alternate_id
156099389CV2103080single nucleotide variantNM_018670.4(MESP1):c.218G>A (p.Gly73Asp)MESP1-related disorder [RCV003963397]|not provided [RCV002913345]benign158975101489751014Humanname , trait , alternate_id
156235277CV2104932single nucleotide variantNM_018670.4(MESP1):c.236T>C (p.Leu79Pro)not provided [RCV002919094]|not specified [RCV004067008]uncertain significance158975099689750996Humanname
155943713CV2130062single nucleotide variantNM_018670.4(MESP1):c.206T>C (p.Val69Ala)not provided [RCV002971457]|not specified [RCV004827920]uncertain significance158975102689751026Humanname
155970947CV2335636single nucleotide variantNM_018670.4(MESP1):c.169C>T (p.Arg57Trp)not specified [RCV004193838]uncertain significance158975106389751063Humanname
155901521CV2345821single nucleotide variantNM_018670.4(MESP1):c.125C>T (p.Ser42Leu)not specified [RCV004198868]uncertain significance158975110789751107Humanname
155905331CV2349738single nucleotide variantNM_018670.4(MESP1):c.191C>T (p.Pro64Leu)not specified [RCV004204152]uncertain significance158975104189751041Humanname
156137151CV2375689single nucleotide variantNM_018670.4(MESP1):c.200C>G (p.Pro67Arg)not specified [RCV004224287]uncertain significance158975103289751032Humanname
329357939CV2427888single nucleotide variantNM_018670.4(MESP1):c.217G>C (p.Gly73Arg)not specified [RCV004252659]uncertain significance158975101589751015Humanname
401740629CV2681479single nucleotide variantNM_018670.4(MESP1):c.256A>C (p.Ser86Arg)not specified [RCV004292015]uncertain significance158975097689750976Humanname
401743493CV2687966single nucleotide variantNM_018670.4(MESP1):c.119C>T (p.Pro40Leu)not specified [RCV004305047]uncertain significance158975111389751113Humanname
405221983CV3154811single nucleotide variantNM_018670.4(MESP1):c.243C>A (p.Ser81Arg)not provided [RCV003847306]uncertain significance158975098989750989Humanname
405694105CV3282064single nucleotide variantNM_018670.4(MESP1):c.130G>A (p.Gly44Ser)not specified [RCV004424216]uncertain significance158975110289751102Humanname
405694117CV3282066single nucleotide variantNM_018670.4(MESP1):c.218G>C (p.Gly73Ala)not specified [RCV004424218]uncertain significance158975101489751014Humanname
405694124CV3282067single nucleotide variantNM_018670.4(MESP1):c.248A>C (p.Gln83Pro)not specified [RCV004424219]uncertain significance158975098489750984Humanname
405694132CV3282068single nucleotide variantNM_018670.4(MESP1):c.250A>G (p.Arg84Gly)not specified [RCV004424220]uncertain significance158975098289750982Humanname
405694139CV3282069single nucleotide variantNM_018670.4(MESP1):c.296C>T (p.Ala99Val)not specified [RCV004424221]uncertain significance158975093689750936Humanname
407502882CV3449927single nucleotide variantNM_018670.4(MESP1):c.247C>A (p.Gln83Lys)not specified [RCV004645294]uncertain significance158975098589750985Humanname
407502894CV3449935single nucleotide variantNM_018670.4(MESP1):c.167C>A (p.Ala56Glu)not specified [RCV004645298]uncertain significance158975106589751065Humanname
597678428CV3556734single nucleotide variantNM_018670.4(MESP1):c.217G>T (p.Gly73Cys)not specified [RCV004830559]uncertain significance158975101589751015Humanname
597678446CV3556736single nucleotide variantNM_018670.4(MESP1):c.224G>T (p.Arg75Leu)not specified [RCV004830561]uncertain significance158975100889751008Humanname
597634881CV3556737single nucleotide variantNM_018670.4(MESP1):c.253C>A (p.Gln85Lys)not specified [RCV004824239]uncertain significance158975097989750979Humanname
597634887CV3556738single nucleotide variantNM_018670.4(MESP1):c.189C>A (p.Asp63Glu)not specified [RCV004824240]uncertain significance158975104389751043Humanname
597844323CV3752598single nucleotide variantNM_018670.4(MESP1):c.244G>A (p.Gly82Arg)not provided [RCV005087004]uncertain significance158975098889750988Humanname
597957375CV3800501deletionNM_018670.4(MESP1):c.797del (p.Glu266fs)not provided [RCV005137593]uncertain significance158975015489750154Humanname
597935766CV3807164single nucleotide variantNM_018670.4(MESP1):c.197C>T (p.Ala66Val)not provided [RCV005157735]uncertain significance158975103589751035Humanname
597886336CV3835017single nucleotide variantNM_018670.4(MESP1):c.295G>C (p.Ala99Pro)not provided [RCV005178741]uncertain significance158975093789750937Humanname
598225901CV3985887single nucleotide variantNM_018670.4(MESP1):c.150C>A (p.Ser50Arg)not specified [RCV005380485]uncertain significance158975108289751082Humanname
151788766CV1450720single nucleotide variantNM_018670.4(MESP1):c.568G>T (p.Gly190Cys)not provided [RCV001931199]|not specified [RCV004044301]uncertain significance158975066489750664Humanname
151708887CV1495229single nucleotide variantNM_018670.4(MESP1):c.308A>C (p.His103Pro)not provided [RCV002001546]uncertain significance158975092489750924Humanname
152175711CV1527104single nucleotide variantNM_018670.4(MESP1):c.503A>G (p.Asp168Gly)MESP1-related disorder [RCV003903574]|not provided [RCV002163847]benign158975072989750729Humanname , trait , alternate_id
152125612CV1532367single nucleotide variantNM_018670.4(MESP1):c.669C>G (p.Phe223Leu)MESP1-related disorder [RCV003984226]|not provided [RCV002118414]benign158975056389750563Humanname , trait , alternate_id
152088790CV1603265single nucleotide variantNM_018670.4(MESP1):c.435G>T (p.Glu145Asp)MESP1-related disorder [RCV003948881]|not provided [RCV002077420]benign158975079789750797Humanname , trait , alternate_id
152094179CV1632067single nucleotide variantNM_018670.4(MESP1):c.650G>A (p.Arg217His)MESP1-related disorder [RCV003923657]|not provided [RCV002132409]benign158975058289750582Humanname , trait , alternate_id
152080570CV1650124single nucleotide variantNM_018670.4(MESP1):c.520A>G (p.Met174Val)MESP1-related disorder [RCV003941287]|not provided [RCV002092785]benign158975071289750712Humanname , trait , alternate_id
152114431CV1659631single nucleotide variantNM_018670.4(MESP1):c.453C>G (p.Cys151Trp)MESP1-related disorder [RCV003923549]|not provided [RCV002080696]benign158975077989750779Humanname , trait , alternate_id
152166578CV1661325single nucleotide variantNM_018670.4(MESP1):c.526A>T (p.Thr176Ser)not provided [RCV002124251]likely benign158975070689750706Humanname
156413417CV1900941single nucleotide variantNM_018670.4(MESP1):c.332C>A (p.Pro111Gln)not provided [RCV002588160]uncertain significance158975090089750900Humanname
156050358CV1923881single nucleotide variantNM_018670.4(MESP1):c.661G>T (p.Ala221Ser)not provided [RCV002637914]uncertain significance158975057189750571Humanname
156217264CV1980380single nucleotide variantNM_018670.4(MESP1):c.449G>A (p.Arg150Gln)not provided [RCV002626311]|not specified [RCV004641991]uncertain significance158975078389750783Humanname
156135927CV2119012single nucleotide variantNM_018670.4(MESP1):c.560G>T (p.Arg187Leu)not provided [RCV002954048]|not specified [RCV004068142]uncertain significance158975067289750672Humanname
155937288CV2125797single nucleotide variantNM_018670.4(MESP1):c.459G>C (p.Gln153His)not provided [RCV002971040]uncertain significance158975077389750773Humanname
156270211CV2195146single nucleotide variantNM_018670.4(MESP1):c.331C>G (p.Pro111Ala)not specified [RCV004080094]uncertain significance158975090189750901Humanname
155979209CV2215159single nucleotide variantNM_018670.4(MESP1):c.428G>C (p.Ser143Thr)not specified [RCV004086878]uncertain significance158975080489750804Humanname
329401345CV2442184single nucleotide variantNM_018670.4(MESP1):c.309C>G (p.His103Gln)not specified [RCV004264681]uncertain significance158975092389750923Humanname
401752794CV2707129single nucleotide variantNM_018670.4(MESP1):c.332C>T (p.Pro111Leu)not specified [RCV004315497]uncertain significance158975090089750900Humanname
401783657CV2723811single nucleotide variantNM_018670.4(MESP1):c.625G>C (p.Gly209Arg)not specified [RCV004325960]uncertain significance158975060789750607Humanname
401879140CV2778186single nucleotide variantNM_018670.4(MESP1):c.338T>C (p.Val113Ala)not specified [RCV004349910]uncertain significance158975089489750894Humanname
401930101CV2814482single nucleotide variantNM_018670.4(MESP1):c.310G>T (p.Glu104Ter)not provided [RCV003390555]uncertain significance158975092289750922Humanname
402491560CV2863038single nucleotide variantNM_018670.4(MESP1):c.469G>T (p.Ala157Ser)not provided [RCV003573065]uncertain significance158975076389750763Humanname
405225986CV2882276single nucleotide variantNM_018670.4(MESP1):c.329C>T (p.Pro110Leu)not provided [RCV003554666]|not specified [RCV004824071]uncertain significance158975090389750903Humanname
402472749CV2908685single nucleotide variantNM_018670.4(MESP1):c.499C>G (p.Pro167Ala)not provided [RCV003570854]|not specified [RCV004369391]uncertain significance158975073389750733Humanname
405250979CV3053246single nucleotide variantNM_018670.4(MESP1):c.301G>T (p.Ala101Ser)not provided [RCV003721773]uncertain significance158975093189750931Humanname
405025161CV3073241single nucleotide variantNM_018670.4(MESP1):c.743T>C (p.Leu248Pro)not provided [RCV003738726]uncertain significance158975020889750208Humanname
405179039CV3119729single nucleotide variantNM_018670.4(MESP1):c.370G>C (p.Glu124Gln)not provided [RCV003819822]uncertain significance158975086289750862Humanname
405171585CV3122486single nucleotide variantNM_018670.4(MESP1):c.397A>T (p.Ile133Phe)not provided [RCV003819075]|not specified [RCV004366714]uncertain significance158975083589750835Humanname
402499843CV3170460single nucleotide variantNM_018670.4(MESP1):c.340G>A (p.Ala114Thr)not provided [RCV003877832]uncertain significance158975089289750892Humanname
402483396CV3171164single nucleotide variantNM_018670.4(MESP1):c.370G>T (p.Glu124Ter)not provided [RCV003876191]uncertain significance158975086289750862Humanname
405269057CV3201220single nucleotide variantNM_018670.4(MESP1):c.746C>T (p.Ala249Val)MESP1-related disorder [RCV003899326]uncertain significance158975020589750205Humanname , trait , alternate_id
405694144CV3282070single nucleotide variantNM_018670.4(MESP1):c.346G>C (p.Ala116Pro)not specified [RCV004424222]uncertain significance158975088689750886Humanname
405694151CV3282071single nucleotide variantNM_018670.4(MESP1):c.347C>T (p.Ala116Val)not specified [RCV004424223]uncertain significance158975088589750885Humanname
405694157CV3282072single nucleotide variantNM_018670.4(MESP1):c.356G>T (p.Ser119Ile)not specified [RCV004424224]uncertain significance158975087689750876Humanname
405694162CV3282073single nucleotide variantNM_018670.4(MESP1):c.374C>T (p.Thr125Met)not specified [RCV004424225]uncertain significance158975085889750858Humanname
405694170CV3282074single nucleotide variantNM_018670.4(MESP1):c.451T>G (p.Cys151Gly)not specified [RCV004424226]uncertain significance158975078189750781Humanname
405694178CV3282075single nucleotide variantNM_018670.4(MESP1):c.499C>A (p.Pro167Thr)not specified [RCV004424227]uncertain significance158975073389750733Humanname
407518155CV3449928single nucleotide variantNM_018670.4(MESP1):c.786G>T (p.Trp262Cys)not specified [RCV004628770]uncertain significance158975016589750165Humanname
407518158CV3449929single nucleotide variantNM_018670.4(MESP1):c.551G>A (p.Gly184Glu)not specified [RCV004628771]uncertain significance158975068189750681Humanname
407518161CV3449930single nucleotide variantNM_018670.4(MESP1):c.469G>A (p.Ala157Thr)not specified [RCV004628772]uncertain significance158975076389750763Humanname
407502885CV3449931single nucleotide variantNM_018670.4(MESP1):c.661G>A (p.Ala221Thr)not specified [RCV004645295]uncertain significance158975057189750571Humanname
407502888CV3449932single nucleotide variantNM_018670.4(MESP1):c.680C>T (p.Ala227Val)not specified [RCV004645296]uncertain significance158975055289750552Humanname
407502890CV3449933single nucleotide variantNM_018670.4(MESP1):c.413C>T (p.Ala138Val)not specified [RCV004645297]uncertain significance158975081989750819Humanname
597678397CV3556731single nucleotide variantNM_018670.4(MESP1):c.491C>T (p.Pro164Leu)not specified [RCV004830556]uncertain significance158975074189750741Humanname
597678408CV3556732single nucleotide variantNM_018670.4(MESP1):c.328C>T (p.Pro110Ser)not specified [RCV004830557]uncertain significance158975090489750904Humanname
597678418CV3556733single nucleotide variantNM_018670.4(MESP1):c.412G>A (p.Ala138Thr)not specified [RCV004830558]uncertain significance158975082089750820Humanname
597678439CV3556735single nucleotide variantNM_018670.4(MESP1):c.364A>G (p.Lys122Glu)not specified [RCV004830560]uncertain significance158975086889750868Humanname
597903333CV3804619single nucleotide variantNM_018670.4(MESP1):c.611C>T (p.Pro204Leu)not provided [RCV005153054]uncertain significance158975062189750621Humanname
597956097CV3809621single nucleotide variantNM_018670.4(MESP1):c.559C>G (p.Arg187Gly)not provided [RCV005162347]uncertain significance158975067389750673Humanname
597958265CV3814788single nucleotide variantNM_018670.4(MESP1):c.575T>C (p.Val192Ala)not provided [RCV005162913]uncertain significance158975065789750657Humanname
598225891CV3985882single nucleotide variantNM_018670.4(MESP1):c.691G>A (p.Gly231Arg)not specified [RCV005380483]uncertain significance158975054189750541Humanname
598251794CV3985883single nucleotide variantNM_018670.4(MESP1):c.533C>T (p.Thr178Met)not specified [RCV005366849]uncertain significance158975069989750699Humanname
598251805CV3985886single nucleotide variantNM_018670.4(MESP1):c.775C>T (p.Pro259Ser)not specified [RCV005366851]uncertain significance158975017689750176Humanname
405204307CV2858296microsatelliteNM_018670.4(MESP1):c.542AGGGGC[2] (p.183QG[1])not provided [RCV003551624]uncertain significance158975067389750678Humanname
150334261CV1164486insertionNM_018670.4(MESP1):c.155_156insCCGAGCCCCGT (p.Ala53fs)not specified [RCV001529475]benign158975107689751077Humanname
597830919CV3743652microsatelliteNM_018670.4(MESP1):c.542AGGGGC[4] (p.Gly186_Arg187insGlnGly)not provided [RCV005062469]uncertain significance158975067289750673Humanname
152174035CV1535978insertionNM_018670.4(MESP1):c.166_167insTGCCGAGCCCCG (p.Pro55_Ala56insValProSerPro)not provided [RCV002144309]benign158975106589751066Humanname
405245956CV3075651indelNM_018670.4(MESP1):c.167delinsTGCCGAGCCCCGT (p.Ala56delinsValProSerProVal)not provided [RCV003738603]uncertain significance158975106589751065Humanname
405228818CV3065964insertionNM_018670.4(MESP1):c.166_167insTGCCGAGCCCCGTGCCGAGCCCCG (p.Pro55_Ala56insValProSerProValProSerPro)not provided [RCV003734536]uncertain significance158975106589751066Humanname