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


252 records found for search term Utp20
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15186554CV778011single nucleotide variantNM_014503.3(UTP20):c.735+8A>Cnot provided [RCV000953318]benign12101290282101290282Humanname
155921330CV2240510single nucleotide variantNM_014503.3(UTP20):c.7A>C (p.Thr3Pro)not specified [RCV004119175]likely benign12101280289101280289Humanname
15149030CV724829single nucleotide variantNM_014503.3(UTP20):c.54A>G (p.Thr18=)not provided [RCV000879077]benign12101281124101281124Humanname
405801310CV3348491single nucleotide variantNM_014503.3(UTP20):c.23A>G (p.His8Arg)not specified [RCV004477754]uncertain significance12101280305101280305Humanname
597803400CV3623438single nucleotide variantNM_014503.3(UTP20):c.22C>T (p.His8Tyr)not specified [RCV004881717]uncertain significance12101280304101280304Humanname
405801391CV3348536single nucleotide variantNM_014503.3(UTP20):c.97C>T (p.Arg33Trp)not specified [RCV004477799]uncertain significance12101281167101281167Humanname
15151991CV713274single nucleotide variantNM_014503.3(UTP20):c.405G>A (p.Ser135=)not provided [RCV000968258]benign|likely benign12101286399101286399Humanname
15125479CV713276single nucleotide variantNM_014503.3(UTP20):c.912C>T (p.His304=)not provided [RCV000963586]benign12101291762101291762Humanname
15122447CV768853single nucleotide variantNM_014503.3(UTP20):c.819C>T (p.Leu273=)not provided [RCV000940686]likely benign12101290816101290816Humanname
156341706CV2344915single nucleotide variantNM_014503.3(UTP20):c.262A>G (p.Ile88Val)not specified [RCV004191047]uncertain significance12101285817101285817Humanname
597803375CV3623423single nucleotide variantNM_014503.3(UTP20):c.2830T>C (p.Leu944=)not specified [RCV004881705]likely benign12101320852101320852Humanname
597803425CV3632963single nucleotide variantNM_014503.3(UTP20):c.151G>A (p.Gly51Ser)not specified [RCV004881729]uncertain significance12101285594101285594Humanname
617152297CV4020672single nucleotide variantNM_014503.3(UTP20):c.2160G>A (p.Pro720=)not provided [RCV005427929]benign12101309768101309768Humanname
156062389CV2203579single nucleotide variantNM_014503.3(UTP20):c.500T>C (p.Met167Thr)not specified [RCV004072775]uncertain significance12101286494101286494Humanname
156090806CV2206640single nucleotide variantNM_014503.3(UTP20):c.319C>G (p.Leu107Val)not specified [RCV004080979]uncertain significance12101285874101285874Humanname
156279148CV2210118single nucleotide variantNM_014503.3(UTP20):c.958A>C (p.Lys320Gln)not specified [RCV004078585]uncertain significance12101291808101291808Humanname
155930040CV2224653single nucleotide variantNM_014503.3(UTP20):c.835T>A (p.Ser279Thr)not specified [RCV004092498]uncertain significance12101290832101290832Humanname
156217979CV2253908single nucleotide variantNM_014503.3(UTP20):c.809G>A (p.Gly270Glu)not specified [RCV004127588]uncertain significance12101290806101290806Humanname
156051280CV2386303single nucleotide variantNM_014503.3(UTP20):c.755G>A (p.Arg252Gln)not specified [RCV004228646]likely benign12101290752101290752Humanname
329363508CV2471700single nucleotide variantNM_014503.3(UTP20):c.415A>G (p.Thr139Ala)not specified [RCV004286980]uncertain significance12101286409101286409Humanname
401746855CV2732000single nucleotide variantNM_014503.3(UTP20):c.553A>G (p.Ile185Val)not specified [RCV004333235]uncertain significance12101288997101288997Humanname
401857505CV2760196single nucleotide variantNM_014503.3(UTP20):c.653C>G (p.Pro218Arg)not specified [RCV004347373]uncertain significance12101290192101290192Humanname
401898639CV2782568single nucleotide variantNM_014503.3(UTP20):c.796T>C (p.Trp266Arg)not specified [RCV004359602]uncertain significance12101290793101290793Humanname
401932302CV2816775single nucleotide variantNM_014503.3(UTP20):c.8131T>C (p.Leu2711=)not provided [RCV003391956]likely benign12101385657101385657Humanname
405801470CV3348499single nucleotide variantNM_014503.3(UTP20):c.349G>T (p.Asp117Tyr)not specified [RCV004477762]uncertain significance12101286343101286343Humanname
405801334CV3348504single nucleotide variantNM_014503.3(UTP20):c.404C>T (p.Ser135Leu)not specified [RCV004477767]uncertain significance12101286398101286398Humanname
405801390CV3348535single nucleotide variantNM_014503.3(UTP20):c.972A>T (p.Glu324Asp)not specified [RCV004477798]uncertain significance12101291822101291822Humanname
407529163CV3487814single nucleotide variantNM_014503.3(UTP20):c.658A>G (p.Lys220Glu)not specified [RCV004680761]uncertain significance12101290197101290197Humanname
597799351CV3623408single nucleotide variantNM_014503.3(UTP20):c.394A>T (p.Thr132Ser)not specified [RCV004879634]uncertain significance12101286388101286388Humanname
597799353CV3623409single nucleotide variantNM_014503.3(UTP20):c.838A>G (p.Thr280Ala)not specified [RCV004879635]uncertain significance12101290835101290835Humanname
597803402CV3623439single nucleotide variantNM_014503.3(UTP20):c.358A>T (p.Met120Leu)not specified [RCV004881718]uncertain significance12101286352101286352Humanname
598204888CV3933083single nucleotide variantNM_014503.3(UTP20):c.421G>A (p.Asp141Asn)not specified [RCV005290764]uncertain significance12101286415101286415Humanname
598204897CV3933084single nucleotide variantNM_014503.3(UTP20):c.602C>T (p.Ser201Phe)not specified [RCV005290765]uncertain significance12101290141101290141Humanname
598239412CV3933088single nucleotide variantNM_014503.3(UTP20):c.968T>G (p.Leu323Trp)not specified [RCV005296585]uncertain significance12101291818101291818Humanname
15174877CV702057single nucleotide variantNM_014503.3(UTP20):c.6345G>A (p.Val2115=)not provided [RCV000950444]benign12101367937101367937Humanname
15118984CV713275single nucleotide variantNM_014503.3(UTP20):c.501G>A (p.Met167Ile)not provided [RCV000962474]benign12101286495101286495Humanname
15106185CV724831single nucleotide variantNM_014503.3(UTP20):c.3906T>C (p.His1302=)not provided [RCV000893231]benign12101338850101338850Humanname
15181701CV724835single nucleotide variantNM_014503.3(UTP20):c.6159A>G (p.Leu2053=)not provided [RCV000885825]benign12101366591101366591Humanname
15113354CV724836single nucleotide variantNM_014503.3(UTP20):c.7797G>A (p.Ala2599=)not provided [RCV000894649]benign|likely benign12101383181101383181Humanname
15118692CV768854single nucleotide variantNM_014503.3(UTP20):c.6198T>C (p.Val2066=)not provided [RCV000940055]likely benign12101366630101366630Humanname
156247471CV2215338single nucleotide variantNM_014503.3(UTP20):c.2761G>A (p.Val921Ile)not specified [RCV004089153]uncertain significance12101319567101319567Humanname
155939579CV2225576single nucleotide variantNM_014503.3(UTP20):c.2566C>T (p.Pro856Ser)not specified [RCV004100955]uncertain significance12101317491101317491Humanname
156225668CV2226240single nucleotide variantNM_014503.3(UTP20):c.2093A>G (p.His698Arg)not specified [RCV004099493]uncertain significance12101308282101308282Humanname
155950724CV2238638single nucleotide variantNM_014503.3(UTP20):c.1934T>G (p.Ile645Ser)not specified [RCV004107541]uncertain significance12101306700101306700Humanname
156152088CV2245270single nucleotide variantNM_014503.3(UTP20):c.2995G>A (p.Val999Ile)not specified [RCV004107035]uncertain significance12101321583101321583Humanname
156034640CV2256749single nucleotide variantNM_014503.3(UTP20):c.1763G>T (p.Arg588Leu)not specified [RCV004120698]uncertain significance12101302535101302535Humanname
156254414CV2325632single nucleotide variantNM_014503.3(UTP20):c.1052C>T (p.Thr351Ile)not specified [RCV004180044]uncertain significance12101291983101291983Humanname
156136124CV2357123single nucleotide variantNM_014503.3(UTP20):c.2929A>T (p.Arg977Trp)not specified [RCV004206917]uncertain significance12101321517101321517Humanname
329390894CV2437402single nucleotide variantNM_014503.3(UTP20):c.2724G>C (p.Arg908Ser)not specified [RCV004256271]uncertain significance12101317649101317649Humanname
329360010CV2446520single nucleotide variantNM_014503.3(UTP20):c.1661G>A (p.Gly554Glu)not specified [RCV004251420]uncertain significance12101300047101300047Humanname
401721310CV2673673single nucleotide variantNM_014503.3(UTP20):c.1618G>A (p.Val540Ile)not specified [RCV004282404]uncertain significance12101300004101300004Humanname
401730773CV2677339single nucleotide variantNM_014503.3(UTP20):c.2897C>T (p.Pro966Leu)not specified [RCV004295954]uncertain significance12101320919101320919Humanname
401752693CV2707094single nucleotide variantNM_014503.3(UTP20):c.2618G>A (p.Gly873Glu)not specified [RCV004321677]uncertain significance12101317543101317543Humanname
401863491CV2765851single nucleotide variantNM_014503.3(UTP20):c.2603G>A (p.Arg868Gln)not specified [RCV004337889]uncertain significance12101317528101317528Humanname
405801299CV3348485single nucleotide variantNM_014503.3(UTP20):c.1024G>A (p.Ala342Thr)not specified [RCV004477748]uncertain significance12101291874101291874Humanname
405801301CV3348486single nucleotide variantNM_014503.3(UTP20):c.2152G>C (p.Glu718Gln)not specified [RCV004477749]uncertain significance12101308341101308341Humanname
405801303CV3348487single nucleotide variantNM_014503.3(UTP20):c.2242C>T (p.His748Tyr)not specified [RCV004477750]uncertain significance12101311729101311729Humanname
405801304CV3348488single nucleotide variantNM_014503.3(UTP20):c.2245G>A (p.Glu749Lys)not specified [RCV004477751]uncertain significance12101311732101311732Humanname
405801306CV3348489single nucleotide variantNM_014503.3(UTP20):c.2279A>G (p.Tyr760Cys)not specified [RCV004477752]uncertain significance12101311766101311766Humanname
405801308CV3348490single nucleotide variantNM_014503.3(UTP20):c.2398C>G (p.Leu800Val)not specified [RCV004477753]uncertain significance12101312122101312122Humanname
405801313CV3348493single nucleotide variantNM_014503.3(UTP20):c.2773T>G (p.Phe925Val)not specified [RCV004477756]uncertain significance12101319579101319579Humanname
405801315CV3348494single nucleotide variantNM_014503.3(UTP20):c.2848C>G (p.Gln950Glu)not specified [RCV004477757]uncertain significance12101320870101320870Humanname
405801317CV3348495single nucleotide variantNM_014503.3(UTP20):c.2947A>C (p.Ser983Arg)not specified [RCV004477758]uncertain significance12101321535101321535Humanname
407529145CV3487804single nucleotide variantNM_014503.3(UTP20):c.1674A>T (p.Lys558Asn)not specified [RCV004680752]uncertain significance12101300060101300060Humanname
407529157CV3487810single nucleotide variantNM_014503.3(UTP20):c.1769A>G (p.Lys590Arg)not specified [RCV004680758]uncertain significance12101302541101302541Humanname
407464700CV3487813single nucleotide variantNM_014503.3(UTP20):c.2186A>G (p.Tyr729Cys)not specified [RCV004688575]uncertain significance12101309794101309794Humanname
407529165CV3487815single nucleotide variantNM_014503.3(UTP20):c.2176G>A (p.Gly726Ser)not specified [RCV004680762]uncertain significance12101309784101309784Humanname
407529176CV3487820single nucleotide variantNM_014503.3(UTP20):c.1982C>G (p.Pro661Arg)not specified [RCV004680767]uncertain significance12101306748101306748Humanname
407529186CV3487826single nucleotide variantNM_014503.3(UTP20):c.2962A>G (p.Ile988Val)not specified [RCV004680772]uncertain significance12101321550101321550Humanname
407529189CV3487828single nucleotide variantNM_014503.3(UTP20):c.1361C>T (p.Ala454Val)not specified [RCV004680774]uncertain significance12101295589101295589Humanname
597799356CV3623410single nucleotide variantNM_014503.3(UTP20):c.2513G>A (p.Arg838Gln)not specified [RCV004879636]uncertain significance12101312237101312237Humanname
597799359CV3623412single nucleotide variantNM_014503.3(UTP20):c.1445A>T (p.Gln482Leu)not specified [RCV004879638]uncertain significance12101299696101299696Humanname
597799361CV3623413single nucleotide variantNM_014503.3(UTP20):c.1681T>G (p.Leu561Val)not specified [RCV004879639]uncertain significance12101302453101302453Humanname
597697354CV3623417single nucleotide variantNM_014503.3(UTP20):c.2567C>T (p.Pro856Leu)not specified [RCV004885258]uncertain significance12101317492101317492Humanname
597803371CV3623418single nucleotide variantNM_014503.3(UTP20):c.2248A>G (p.Met750Val)not specified [RCV004881703]uncertain significance12101311735101311735Humanname
597803379CV3623425single nucleotide variantNM_014503.3(UTP20):c.1298T>C (p.Ile433Thr)not specified [RCV004881707]uncertain significance12101295526101295526Humanname
597803381CV3623427single nucleotide variantNM_014503.3(UTP20):c.1027G>C (p.Asp343His)not specified [RCV004881708]uncertain significance12101291877101291877Humanname
597803392CV3623433single nucleotide variantNM_014503.3(UTP20):c.2363G>T (p.Ser788Ile)not specified [RCV004881713]uncertain significance12101312087101312087Humanname
597803394CV3623434single nucleotide variantNM_014503.3(UTP20):c.2543G>A (p.Arg848Lys)not specified [RCV004881714]uncertain significance12101312267101312267Humanname
597803404CV3623440single nucleotide variantNM_014503.3(UTP20):c.2906T>A (p.Leu969His)not specified [RCV004881719]uncertain significance12101320928101320928Humanname
597697421CV3623442single nucleotide variantNM_014503.3(UTP20):c.1000A>C (p.Ser334Arg)not specified [RCV004885265]uncertain significance12101291850101291850Humanname
597803411CV3632954single nucleotide variantNM_014503.3(UTP20):c.1702G>A (p.Val568Ile)not specified [RCV004881722]uncertain significance12101302474101302474Humanname
597803414CV3632958single nucleotide variantNM_014503.3(UTP20):c.2375C>T (p.Thr792Ile)not specified [RCV004881724]uncertain significance12101312099101312099Humanname
597803418CV3632960single nucleotide variantNM_014503.3(UTP20):c.1027G>A (p.Asp343Asn)not specified [RCV004881726]uncertain significance12101291877101291877Humanname
597803429CV3632965single nucleotide variantNM_014503.3(UTP20):c.2327A>C (p.Asn776Thr)not specified [RCV004881731]uncertain significance12101312051101312051Humanname
598204837CV3933074single nucleotide variantNM_014503.3(UTP20):c.2726G>C (p.Arg909Thr)not specified [RCV005290757]uncertain significance12101317651101317651Humanname
598239387CV3933075single nucleotide variantNM_014503.3(UTP20):c.2727A>T (p.Arg909Ser)not specified [RCV005296580]uncertain significance12101317652101317652Humanname
598239390CV3933077single nucleotide variantNM_014503.3(UTP20):c.1451A>C (p.Lys484Thr)not specified [RCV005296581]uncertain significance12101299702101299702Humanname
598239401CV3933086single nucleotide variantNM_014503.3(UTP20):c.1019C>T (p.Thr340Met)not specified [RCV005296583]likely benign12101291869101291869Humanname
598239423CV3933092single nucleotide variantNM_014503.3(UTP20):c.1495C>G (p.His499Asp)not specified [RCV005296587]uncertain significance12101299746101299746Humanname
598204921CV3933097single nucleotide variantNM_014503.3(UTP20):c.1373C>T (p.Thr458Ile)not specified [RCV005290769]uncertain significance12101295601101295601Humanname
598239443CV3933099single nucleotide variantNM_014503.3(UTP20):c.2902G>A (p.Val968Ile)not specified [RCV005296591]likely benign12101320924101320924Humanname
598239449CV3933100single nucleotide variantNM_014503.3(UTP20):c.1121T>A (p.Leu374Gln)not specified [RCV005296592]uncertain significance12101292052101292052Humanname
15126209CV713277single nucleotide variantNM_014503.3(UTP20):c.1015C>A (p.Pro339Thr)not provided [RCV000963707]benign12101291865101291865Humanname
15149033CV724830single nucleotide variantNM_014503.3(UTP20):c.1129A>T (p.Asn377Tyr)not provided [RCV000879078]benign12101292060101292060Humanname
156066262CV2193296single nucleotide variantNM_014503.3(UTP20):c.7807G>A (p.Gly2603Arg)not specified [RCV004071604]likely benign12101383191101383191Humanname
156398721CV2194747single nucleotide variantNM_014503.3(UTP20):c.5216C>T (p.Pro1739Leu)not specified [RCV004075296]likely benign12101354940101354940Humanname
156269344CV2195082single nucleotide variantNM_014503.3(UTP20):c.4342G>A (p.Val1448Ile)not specified [RCV004077992]uncertain significance12101342986101342986Humanname
156135890CV2196125single nucleotide variantNM_014503.3(UTP20):c.5993G>A (p.Arg1998Gln)not specified [RCV004073487]uncertain significance12101365493101365493Humanname
156068849CV2203731single nucleotide variantNM_014503.3(UTP20):c.6629A>G (p.Tyr2210Cys)not specified [RCV004074378]uncertain significance12101370505101370505Humanname
156069085CV2203754single nucleotide variantNM_014503.3(UTP20):c.5110G>A (p.Ala1704Thr)not specified [RCV004074397]likely benign12101354834101354834Humanname
156222116CV2208915single nucleotide variantNM_014503.3(UTP20):c.3887G>A (p.Gly1296Glu)not specified [RCV004085280]uncertain significance12101338831101338831Humanname
156039309CV2215152single nucleotide variantNM_014503.3(UTP20):c.4480A>G (p.Ser1494Gly)not specified [RCV004086872]uncertain significance12101344625101344625Humanname
155922885CV2215323single nucleotide variantNM_014503.3(UTP20):c.5324C>T (p.Thr1775Ile)not specified [RCV004087350]uncertain significance12101355048101355048Humanname
156092107CV2216728single nucleotide variantNM_014503.3(UTP20):c.3250G>A (p.Asp1084Asn)not specified [RCV004083175]uncertain significance12101329282101329282Humanname
156341122CV2225761single nucleotide variantNM_014503.3(UTP20):c.4586G>T (p.Gly1529Val)not specified [RCV004103173]uncertain significance12101344731101344731Humanname
156071121CV2229120single nucleotide variantNM_014503.3(UTP20):c.3924G>T (p.Gln1308His)not specified [RCV004099167]uncertain significance12101338868101338868Humanname
155941401CV2229121single nucleotide variantNM_014503.3(UTP20):c.3925T>A (p.Tyr1309Asn)not specified [RCV004099168]uncertain significance12101338869101338869Humanname
156388876CV2229720single nucleotide variantNM_014503.3(UTP20):c.6200G>A (p.Arg2067Gln)not specified [RCV004103521]uncertain significance12101366632101366632Humanname
156251126CV2232270single nucleotide variantNM_014503.3(UTP20):c.8332C>G (p.Leu2778Val)not specified [RCV004105053]uncertain significance12101386097101386097Humanname
156029156CV2238289single nucleotide variantNM_014503.3(UTP20):c.6104C>G (p.Pro2035Arg)not specified [RCV004113367]uncertain significance12101365604101365604Humanname
156297359CV2240848single nucleotide variantNM_014503.3(UTP20):c.3473T>C (p.Met1158Thr)not specified [RCV004102137]uncertain significance12101333356101333356Humanname
156073212CV2251540single nucleotide variantNM_014503.3(UTP20):c.3670C>G (p.Pro1224Ala)not specified [RCV004117497]uncertain significance12101338079101338079Humanname
156077426CV2251541single nucleotide variantNM_014503.3(UTP20):c.7634T>G (p.Leu2545Trp)not specified [RCV004117498]uncertain significance12101381189101381189Humanname
156031417CV2274928single nucleotide variantNM_014503.3(UTP20):c.6724G>A (p.Asp2242Asn)not specified [RCV004134988]uncertain significance12101371094101371094Humanname
156177894CV2298249single nucleotide variantNM_014503.3(UTP20):c.6862A>T (p.Met2288Leu)not specified [RCV004160168]uncertain significance12101372947101372947Humanname
156073098CV2299145single nucleotide variantNM_014503.3(UTP20):c.3767T>C (p.Val1256Ala)not specified [RCV004152490]likely benign12101338176101338176Humanname
156042202CV2310953single nucleotide variantNM_014503.3(UTP20):c.6737G>A (p.Arg2246Gln)not specified [RCV004163987]uncertain significance12101371107101371107Humanname
156263108CV2314946single nucleotide variantNM_014503.3(UTP20):c.3689A>G (p.Asp1230Gly)not specified [RCV004171049]uncertain significance12101338098101338098Humanname
156258351CV2322138single nucleotide variantNM_014503.3(UTP20):c.5195G>A (p.Ser1732Asn)not specified [RCV004175922]uncertain significance12101354919101354919Humanname
156278033CV2330886single nucleotide variantNM_014503.3(UTP20):c.5093T>C (p.Ile1698Thr)not specified [RCV004185939]uncertain significance12101353115101353115Humanname
156284318CV2334752single nucleotide variantNM_014503.3(UTP20):c.5225C>T (p.Pro1742Leu)not specified [RCV004188729]uncertain significance12101354949101354949Humanname
156287362CV2336091single nucleotide variantNM_014503.3(UTP20):c.4235C>T (p.Thr1412Met)not specified [RCV004189687]uncertain significance12101342579101342579Humanname
155976045CV2342732single nucleotide variantNM_014503.3(UTP20):c.5954A>G (p.Lys1985Arg)not specified [RCV004196804]uncertain significance12101363739101363739Humanname
156218406CV2344745single nucleotide variantNM_014503.3(UTP20):c.7492G>A (p.Glu2498Lys)not specified [RCV004190899]uncertain significance12101379466101379466Humanname
156075660CV2350894single nucleotide variantNM_014503.3(UTP20):c.4887T>A (p.His1629Gln)not specified [RCV004211731]uncertain significance12101352057101352057Humanname
156154755CV2359645single nucleotide variantNM_014503.3(UTP20):c.3458G>A (p.Arg1153His)not specified [RCV004210473]uncertain significance12101333341101333341Humanname
156212989CV2367013single nucleotide variantNM_014503.3(UTP20):c.7994C>T (p.Pro2665Leu)not specified [RCV004215464]uncertain significance12101383607101383607Humanname
156256811CV2369211single nucleotide variantNM_014503.3(UTP20):c.3781A>G (p.Asn1261Asp)not specified [RCV004208130]uncertain significance12101338190101338190Humanname
156384225CV2371331single nucleotide variantNM_014503.3(UTP20):c.4209C>A (p.Asn1403Lys)not specified [RCV004223340]uncertain significance12101342553101342553Humanname
156387347CV2372717single nucleotide variantNM_014503.3(UTP20):c.4180A>G (p.Ile1394Val)not specified [RCV004221909]uncertain significance12101342524101342524Humanname
156387439CV2372746single nucleotide variantNM_014503.3(UTP20):c.6266G>A (p.Arg2089Gln)not specified [RCV004221934]uncertain significance12101366698101366698Humanname
156387847CV2383400single nucleotide variantNM_014503.3(UTP20):c.6154C>T (p.Arg2052Cys)not specified [RCV004222424]uncertain significance12101366586101366586Humanname
329400045CV2440434single nucleotide variantNM_014503.3(UTP20):c.7729A>G (p.Lys2577Glu)not specified [RCV004256369]likely benign12101383113101383113Humanname
329402589CV2451101single nucleotide variantNM_014503.3(UTP20):c.4040A>G (p.Glu1347Gly)not specified [RCV004270041]uncertain significance12101340549101340549Humanname
329386925CV2452688single nucleotide variantNM_014503.3(UTP20):c.4717G>C (p.Asp1573His)not specified [RCV004275247]uncertain significance12101345665101345665Humanname
329386359CV2455888single nucleotide variantNM_014503.3(UTP20):c.5590A>G (p.Ile1864Val)not specified [RCV004279161]uncertain significance12101356981101356981Humanname
329359923CV2462379single nucleotide variantNM_014503.3(UTP20):c.5345C>G (p.Thr1782Ser)not specified [RCV004268144]uncertain significance12101355069101355069Humanname
329399753CV2467632single nucleotide variantNM_014503.3(UTP20):c.3050A>G (p.Tyr1017Cys)not specified [RCV004287487]uncertain significance12101327089101327089Humanname
329353358CV2468982single nucleotide variantNM_014503.3(UTP20):c.6058G>A (p.Glu2020Lys)not specified [RCV004274245]uncertain significance12101365558101365558Humanname
329375046CV2470976single nucleotide variantNM_014503.3(UTP20):c.5619A>G (p.Ile1873Met)not specified [RCV004276157]uncertain significance12101357010101357010Humanname
401742304CV2673750single nucleotide variantNM_014503.3(UTP20):c.3715C>A (p.Leu1239Ile)not specified [RCV004291094]uncertain significance12101338124101338124Humanname
401742374CV2673766single nucleotide variantNM_014503.3(UTP20):c.3158T>C (p.Ile1053Thr)not specified [RCV004293153]uncertain significance12101327197101327197Humanname
401742824CV2677689single nucleotide variantNM_014503.3(UTP20):c.8215C>A (p.Pro2739Thr)not specified [RCV004291774]uncertain significance12101385980101385980Humanname
401743341CV2684680single nucleotide variantNM_014503.3(UTP20):c.4523A>C (p.Asn1508Thr)not specified [RCV004293776]uncertain significance12101344668101344668Humanname
401770664CV2685828single nucleotide variantNM_014503.3(UTP20):c.4339G>A (p.Asp1447Asn)not specified [RCV004294814]uncertain significance12101342983101342983Humanname
401775974CV2692556single nucleotide variantNM_014503.3(UTP20):c.6196G>T (p.Val2066Phe)not specified [RCV004312299]uncertain significance12101366628101366628Humanname
401783184CV2703859single nucleotide variantNM_014503.3(UTP20):c.4078C>T (p.Leu1360Phe)not specified [RCV004306723]uncertain significance12101340587101340587Humanname
401779208CV2713335single nucleotide variantNM_014503.3(UTP20):c.3324T>G (p.Ile1108Met)not specified [RCV004318636]uncertain significance12101329356101329356Humanname
401780529CV2716819single nucleotide variantNM_014503.3(UTP20):c.7000A>G (p.Thr2334Ala)not specified [RCV004329635]uncertain significance12101373636101373636Humanname
401888836CV2764973single nucleotide variantNM_014503.3(UTP20):c.8179C>T (p.Arg2727Trp)not specified [RCV004335052]uncertain significance12101385705101385705Humanname
401860894CV2772290single nucleotide variantNM_014503.3(UTP20):c.5560C>T (p.Leu1854Phe)not specified [RCV004353311]uncertain significance12101356951101356951Humanname
401887613CV2773546single nucleotide variantNM_014503.3(UTP20):c.3684A>C (p.Glu1228Asp)not specified [RCV004355955]uncertain significance12101338093101338093Humanname
401873949CV2773609single nucleotide variantNM_014503.3(UTP20):c.5755G>A (p.Gly1919Arg)not specified [RCV004356304]uncertain significance12101362025101362025Humanname
401892820CV2791815single nucleotide variantNM_014503.3(UTP20):c.4112T>C (p.Val1371Ala)not specified [RCV004359266]uncertain significance12101342456101342456Humanname
401932301CV2816774single nucleotide variantNM_014503.3(UTP20):c.7840G>A (p.Gly2614Ser)not provided [RCV003391955]likely benign12101383224101383224Humanname
405801319CV3348496single nucleotide variantNM_014503.3(UTP20):c.3244G>A (p.Asp1082Asn)not specified [RCV004477759]uncertain significance12101329276101329276Humanname
405801321CV3348497single nucleotide variantNM_014503.3(UTP20):c.3278G>A (p.Arg1093His)not specified [RCV004477760]uncertain significance12101329310101329310Humanname
405801323CV3348498single nucleotide variantNM_014503.3(UTP20):c.3388G>A (p.Val1130Ile)not specified [RCV004477761]uncertain significance12101329420101329420Humanname
405801328CV3348501single nucleotide variantNM_014503.3(UTP20):c.3796G>A (p.Glu1266Lys)not specified [RCV004477764]uncertain significance12101338205101338205Humanname
405801330CV3348502single nucleotide variantNM_014503.3(UTP20):c.3963A>T (p.Lys1321Asn)not specified [RCV004477765]uncertain significance12101338907101338907Humanname
405801332CV3348503single nucleotide variantNM_014503.3(UTP20):c.3997C>A (p.Leu1333Ile)not specified [RCV004477766]uncertain significance12101338941101338941Humanname
405801336CV3348505single nucleotide variantNM_014503.3(UTP20):c.4268G>T (p.Gly1423Val)not specified [RCV004477768]uncertain significance12101342809101342809Humanname
405801340CV3348507single nucleotide variantNM_014503.3(UTP20):c.4362G>C (p.Gln1454His)not specified [RCV004477770]uncertain significance12101343006101343006Humanname
405801341CV3348508single nucleotide variantNM_014503.3(UTP20):c.4375T>A (p.Tyr1459Asn)not specified [RCV004477771]uncertain significance12101343019101343019Humanname
405801343CV3348509single nucleotide variantNM_014503.3(UTP20):c.4437C>A (p.Phe1479Leu)not specified [RCV004477772]uncertain significance12101343081101343081Humanname
405801345CV3348510single nucleotide variantNM_014503.3(UTP20):c.4558C>T (p.Arg1520Cys)not specified [RCV004477773]uncertain significance12101344703101344703Humanname
405801347CV3348511single nucleotide variantNM_014503.3(UTP20):c.4724T>C (p.Phe1575Ser)not specified [RCV004477774]uncertain significance12101345672101345672Humanname
405801348CV3348512single nucleotide variantNM_014503.3(UTP20):c.4808T>C (p.Val1603Ala)not specified [RCV004477775]uncertain significance12101346512101346512Humanname
405801352CV3348514single nucleotide variantNM_014503.3(UTP20):c.5015T>C (p.Leu1672Pro)not specified [RCV004477777]uncertain significance12101352185101352185Humanname
405801354CV3348515single nucleotide variantNM_014503.3(UTP20):c.5399A>C (p.Lys1800Thr)not specified [RCV004477778]uncertain significance12101356558101356558Humanname
405801356CV3348516single nucleotide variantNM_014503.3(UTP20):c.5666A>G (p.Gln1889Arg)not specified [RCV004477779]uncertain significance12101357057101357057Humanname
405801358CV3348517single nucleotide variantNM_014503.3(UTP20):c.5762T>G (p.Leu1921Trp)not specified [RCV004477780]uncertain significance12101362032101362032Humanname
405801360CV3348518single nucleotide variantNM_014503.3(UTP20):c.5792T>C (p.Ile1931Thr)not specified [RCV004477781]uncertain significance12101363577101363577Humanname
405801363CV3348520single nucleotide variantNM_014503.3(UTP20):c.6014G>A (p.Arg2005His)not specified [RCV004477783]uncertain significance12101365514101365514Humanname
405801365CV3348521single nucleotide variantNM_014503.3(UTP20):c.6143C>T (p.Ala2048Val)not specified [RCV004477784]uncertain significance12101366575101366575Humanname
405801367CV3348522single nucleotide variantNM_014503.3(UTP20):c.6418G>A (p.Val2140Ile)not specified [RCV004477785]uncertain significance12101369754101369754Humanname
405801472CV3348523single nucleotide variantNM_014503.3(UTP20):c.6499G>A (p.Ala2167Thr)not specified [RCV004477786]uncertain significance12101369835101369835Humanname
405801370CV3348524single nucleotide variantNM_014503.3(UTP20):c.6514G>A (p.Ala2172Thr)not specified [RCV004477787]uncertain significance12101369850101369850Humanname
405801372CV3348525single nucleotide variantNM_014503.3(UTP20):c.6545A>G (p.Asn2182Ser)not specified [RCV004477788]uncertain significance12101369881101369881Humanname
405801374CV3348526single nucleotide variantNM_014503.3(UTP20):c.7063G>C (p.Gly2355Arg)not specified [RCV004477789]uncertain significance12101373699101373699Humanname
405801375CV3348527single nucleotide variantNM_014503.3(UTP20):c.7205G>T (p.Arg2402Ile)not specified [RCV004477790]uncertain significance12101374881101374881Humanname
405801377CV3348528single nucleotide variantNM_014503.3(UTP20):c.7361T>A (p.Phe2454Tyr)not specified [RCV004477791]uncertain significance12101375721101375721Humanname
405801379CV3348529single nucleotide variantNM_014503.3(UTP20):c.7398T>A (p.Ser2466Arg)not specified [RCV004477792]uncertain significance12101379372101379372Humanname
405801381CV3348530single nucleotide variantNM_014503.3(UTP20):c.7669T>G (p.Leu2557Val)not specified [RCV004477793]uncertain significance12101383053101383053Humanname
405801382CV3348531single nucleotide variantNM_014503.3(UTP20):c.7882C>T (p.Arg2628Trp)not specified [RCV004477794]uncertain significance12101383266101383266Humanname
405801384CV3348532single nucleotide variantNM_014503.3(UTP20):c.7979T>C (p.Ile2660Thr)not specified [RCV004477795]uncertain significance12101383592101383592Humanname
405801386CV3348533single nucleotide variantNM_014503.3(UTP20):c.8279A>G (p.Lys2760Arg)not specified [RCV004477796]uncertain significance12101386044101386044Humanname
405801388CV3348534single nucleotide variantNM_014503.3(UTP20):c.8353G>C (p.Glu2785Gln)not specified [RCV004477797]uncertain significance12101386118101386118Humanname
407529143CV3487803single nucleotide variantNM_014503.3(UTP20):c.7967T>C (p.Met2656Thr)not specified [RCV004680751]uncertain significance12101383580101383580Humanname
407529147CV3487805single nucleotide variantNM_014503.3(UTP20):c.5752G>A (p.Val1918Ile)not specified [RCV004680753]uncertain significance12101362022101362022Humanname
407529149CV3487806single nucleotide variantNM_014503.3(UTP20):c.7510A>G (p.Asn2504Asp)not specified [RCV004680754]uncertain significance12101379484101379484Humanname
407529151CV3487807single nucleotide variantNM_014503.3(UTP20):c.7549G>A (p.Ala2517Thr)not specified [RCV004680755]uncertain significance12101379523101379523Humanname
407529153CV3487808single nucleotide variantNM_014503.3(UTP20):c.5893T>C (p.Tyr1965His)not specified [RCV004680756]uncertain significance12101363678101363678Humanname
407529155CV3487809single nucleotide variantNM_014503.3(UTP20):c.3007G>A (p.Ala1003Thr)not specified [RCV004680757]uncertain significance12101321595101321595Humanname
407529159CV3487811single nucleotide variantNM_014503.3(UTP20):c.6255G>C (p.Glu2085Asp)not specified [RCV004680759]uncertain significance12101366687101366687Humanname
407529167CV3487816single nucleotide variantNM_014503.3(UTP20):c.7399C>T (p.His2467Tyr)not specified [RCV004680763]uncertain significance12101379373101379373Humanname
407529169CV3487817single nucleotide variantNM_014503.3(UTP20):c.7883G>A (p.Arg2628Gln)not specified [RCV004680764]uncertain significance12101383267101383267Humanname
407529172CV3487818single nucleotide variantNM_014503.3(UTP20):c.4040A>C (p.Glu1347Ala)not specified [RCV004680765]uncertain significance12101340549101340549Humanname
407529174CV3487819single nucleotide variantNM_014503.3(UTP20):c.5488C>A (p.Leu1830Ile)not specified [RCV004680766]uncertain significance12101356647101356647Humanname
407529178CV3487821single nucleotide variantNM_014503.3(UTP20):c.5545A>G (p.Lys1849Glu)not specified [RCV004680768]uncertain significance12101356936101356936Humanname
407529181CV3487823single nucleotide variantNM_014503.3(UTP20):c.3271T>G (p.Leu1091Val)not specified [RCV004680770]uncertain significance12101329303101329303Humanname
407464704CV3487824single nucleotide variantNM_014503.3(UTP20):c.5272A>G (p.Ile1758Val)not specified [RCV004688576]uncertain significance12101354996101354996Humanname
407529183CV3487825single nucleotide variantNM_014503.3(UTP20):c.6214G>T (p.Ala2072Ser)not specified [RCV004680771]uncertain significance12101366646101366646Humanname
407529187CV3487827single nucleotide variantNM_014503.3(UTP20):c.5004C>G (p.Ile1668Met)not specified [RCV004680773]uncertain significance12101352174101352174Humanname
597799347CV3623406single nucleotide variantNM_014503.3(UTP20):c.3136G>T (p.Ala1046Ser)not specified [RCV004879632]uncertain significance12101327175101327175Humanname
597799349CV3623407single nucleotide variantNM_014503.3(UTP20):c.3301C>T (p.Leu1101Phe)not specified [RCV004879633]uncertain significance12101329333101329333Humanname
597799357CV3623411single nucleotide variantNM_014503.3(UTP20):c.3367C>G (p.Leu1123Val)not specified [RCV004879637]uncertain significance12101329399101329399Humanname
597799366CV3623415single nucleotide variantNM_014503.3(UTP20):c.3457C>T (p.Arg1153Cys)not specified [RCV004879641]uncertain significance12101333340101333340Humanname
597697343CV3623416single nucleotide variantNM_014503.3(UTP20):c.3286G>A (p.Gly1096Ser)not specified [RCV004885257]uncertain significance12101329318101329318Humanname
597803373CV3623419single nucleotide variantNM_014503.3(UTP20):c.6535C>G (p.Leu2179Val)not specified [RCV004881704]uncertain significance12101369871101369871Humanname
597697364CV3623420single nucleotide variantNM_014503.3(UTP20):c.4310A>G (p.Asp1437Gly)not specified [RCV004885259]uncertain significance12101342954101342954Humanname
597697375CV3623421single nucleotide variantNM_014503.3(UTP20):c.5063A>G (p.His1688Arg)not specified [RCV004885260]uncertain significance12101353085101353085Humanname
597697384CV3623422single nucleotide variantNM_014503.3(UTP20):c.6355A>G (p.Ile2119Val)not specified [RCV004885261]uncertain significance12101367947101367947Humanname
597697393CV3623426single nucleotide variantNM_014503.3(UTP20):c.6866T>C (p.Leu2289Pro)not specified [RCV004885262]uncertain significance12101372951101372951Humanname
597697405CV3623428single nucleotide variantNM_014503.3(UTP20):c.7531C>G (p.His2511Asp)not specified [RCV004885263]uncertain significance12101379505101379505Humanname
597803383CV3623429single nucleotide variantNM_014503.3(UTP20):c.7743C>G (p.Asp2581Glu)not specified [RCV004881709]uncertain significance12101383127101383127Humanname
597803385CV3623430single nucleotide variantNM_014503.3(UTP20):c.3467T>C (p.Ile1156Thr)not specified [RCV004881710]uncertain significance12101333350101333350Humanname
597803388CV3623431single nucleotide variantNM_014503.3(UTP20):c.7603G>A (p.Ala2535Thr)not specified [RCV004881711]uncertain significance12101381158101381158Humanname
597803390CV3623432single nucleotide variantNM_014503.3(UTP20):c.4856C>T (p.Thr1619Ile)not specified [RCV004881712]uncertain significance12101346560101346560Humanname
597803398CV3623436single nucleotide variantNM_014503.3(UTP20):c.6245T>C (p.Ile2082Thr)not specified [RCV004881716]uncertain significance12101366677101366677Humanname
597697413CV3623437single nucleotide variantNM_014503.3(UTP20):c.3649C>A (p.Pro1217Thr)not specified [RCV004885264]uncertain significance12101338058101338058Humanname
597803407CV3623441single nucleotide variantNM_014503.3(UTP20):c.3364A>T (p.Ile1122Leu)not specified [RCV004881720]uncertain significance12101329396101329396Humanname
597803409CV3632953single nucleotide variantNM_014503.3(UTP20):c.3826G>A (p.Val1276Ile)not specified [RCV004881721]uncertain significance12101338235101338235Humanname
597803412CV3632955single nucleotide variantNM_014503.3(UTP20):c.5618T>C (p.Ile1873Thr)not specified [RCV004881723]uncertain significance12101357009101357009Humanname
597697441CV3632957single nucleotide variantNM_014503.3(UTP20):c.7702G>A (p.Glu2568Lys)not specified [RCV004885267]uncertain significance12101383086101383086Humanname
597803416CV3632959single nucleotide variantNM_014503.3(UTP20):c.4895T>C (p.Ile1632Thr)not specified [RCV004881725]uncertain significance12101352065101352065Humanname
597803421CV3632961single nucleotide variantNM_014503.3(UTP20):c.6017G>A (p.Arg2006Gln)not specified [RCV004881727]uncertain significance12101365517101365517Humanname
597803423CV3632962single nucleotide variantNM_014503.3(UTP20):c.6619C>G (p.Leu2207Val)not specified [RCV004881728]uncertain significance12101370495101370495Humanname
597803427CV3632964single nucleotide variantNM_014503.3(UTP20):c.6541G>T (p.Val2181Phe)not specified [RCV004881730]uncertain significance12101369877101369877Humanname
598126552CV3882001single nucleotide variantNM_014503.3(UTP20):c.4108G>A (p.Glu1370Lys)not provided [RCV005233553]uncertain significance12101342452101342452Humanname
598204844CV3933076single nucleotide variantNM_014503.3(UTP20):c.7007A>G (p.Asn2336Ser)not specified [RCV005290758]uncertain significance12101373643101373643Humanname
598204853CV3933078single nucleotide variantNM_014503.3(UTP20):c.7022C>T (p.Thr2341Met)not specified [RCV005290759]likely benign12101373658101373658Humanname
598204861CV3933079single nucleotide variantNM_014503.3(UTP20):c.8090T>C (p.Ile2697Thr)not specified [RCV005290760]uncertain significance12101385616101385616Humanname
598204868CV3933080single nucleotide variantNM_014503.3(UTP20):c.5821G>A (p.Ala1941Thr)not specified [RCV005290761]uncertain significance12101363606101363606Humanname
598204874CV3933081single nucleotide variantNM_014503.3(UTP20):c.3759G>A (p.Met1253Ile)not specified [RCV005290762]uncertain significance12101338168101338168Humanname
598204880CV3933082single nucleotide variantNM_014503.3(UTP20):c.3086A>T (p.Gln1029Leu)not specified [RCV005290763]uncertain significance12101327125101327125Humanname
598239396CV3933085single nucleotide variantNM_014503.3(UTP20):c.5459G>A (p.Arg1820Gln)not specified [RCV005296582]uncertain significance12101356618101356618Humanname
598239407CV3933087single nucleotide variantNM_014503.3(UTP20):c.6150T>G (p.Asp2050Glu)not specified [RCV005296584]uncertain significance12101366582101366582Humanname
598204904CV3933089single nucleotide variantNM_014503.3(UTP20):c.7235A>G (p.Lys2412Arg)not specified [RCV005290766]uncertain significance12101374911101374911Humanname
598239417CV3933091single nucleotide variantNM_014503.3(UTP20):c.5167G>A (p.Glu1723Lys)not specified [RCV005296586]uncertain significance12101354891101354891Humanname
598239427CV3933093single nucleotide variantNM_014503.3(UTP20):c.5995A>C (p.Lys1999Gln)not specified [RCV005296588]uncertain significance12101365495101365495Humanname
598239432CV3933094single nucleotide variantNM_014503.3(UTP20):c.3350C>T (p.Pro1117Leu)not specified [RCV005296589]uncertain significance12101329382101329382Humanname
598239438CV3933095single nucleotide variantNM_014503.3(UTP20):c.5392A>G (p.Thr1798Ala)not specified [RCV005296590]uncertain significance12101355116101355116Humanname
598204915CV3933096single nucleotide variantNM_014503.3(UTP20):c.4630A>G (p.Ile1544Val)not specified [RCV005290768]uncertain significance12101345578101345578Humanname
598204926CV3933098single nucleotide variantNM_014503.3(UTP20):c.3949G>T (p.Ala1317Ser)not specified [RCV005290770]uncertain significance12101338893101338893Humanname
598239456CV3933102single nucleotide variantNM_014503.3(UTP20):c.4308C>G (p.Phe1436Leu)not specified [RCV005296593]uncertain significance12101342952101342952Humanname
15201609CV702058single nucleotide variantNM_014503.3(UTP20):c.6383A>G (p.Lys2128Arg)not provided [RCV000957672]benign12101367975101367975Humanname
15149036CV724832single nucleotide variantNM_014503.3(UTP20):c.5713G>A (p.Val1905Ile)not provided [RCV000879079]likely benign12101361983101361983Humanname
15181692CV724833single nucleotide variantNM_014503.3(UTP20):c.5801A>G (p.His1934Arg)not provided [RCV000885823]benign12101363586101363586Humanname
15181697CV724834single nucleotide variantNM_014503.3(UTP20):c.5935A>G (p.Lys1979Glu)not provided [RCV000885824]benign12101363720101363720Humanname
15161298CV738379single nucleotide variantNM_014503.3(UTP20):c.6517A>G (p.Arg2173Gly)not provided [RCV000903319]benign12101369853101369853Humanname