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Variants search result for All species
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139 records found for search term Erap1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
404988325CV2849483single nucleotide variantNM_001040458.3(ERAP1):c.*17A>Cnot specified [RCV003490340]benign59677637996776379Human2name
404988235CV2849553single nucleotide variantNM_001040458.3(ERAP1):c.*95G>Anot specified [RCV003490410]benign59677630196776301Humanname
150511862CV1242820single nucleotide variantNM_001040458.3(ERAP1):c.*321T>Cnot provided [RCV001661173]benign59677607596776075Humanname
404989436CV2849551single nucleotide variantNM_001040458.3(ERAP1):c.*295A>Cnot specified [RCV003490408]benign59677610196776101Humanname
404984011CV2849394single nucleotide variantNM_001040458.3(ERAP1):c.1680-7A>Cnot specified [RCV003489266]benign59678655696786556Human1name
404987562CV2849451single nucleotide variantNM_001040458.3(ERAP1):c.663+40A>Gnot specified [RCV003490308]benign59680082296800822Humanname
404988093CV2849534single nucleotide variantNM_001040458.3(ERAP1):c.524+40G>Anot specified [RCV003490391]benign59680336396803363Humanname
15192180CV730377single nucleotide variantNM_001040458.3(ERAP1):c.2671-9C>Tnot provided [RCV000888591]likely benign59677656096776560Humanname
15150249CV759409single nucleotide variantNM_001040458.3(ERAP1):c.2100+9C>Tnot provided [RCV000923438]likely benign59678391596783915Humanname
15138740CV775237single nucleotide variantNM_001040458.3(ERAP1):c.1760-4C>Gnot provided [RCV000943442]likely benign59678597596785975Humanname
15196829CV777513single nucleotide variantNM_001040458.3(ERAP1):c.2447+9G>Anot provided [RCV000956295]benign59678168496781684Humanname
404984005CV2849393single nucleotide variantNM_001040458.3(ERAP1):c.1760-40G>Anot specified [RCV003489265]benign59678601196786011Human1name
404984417CV2849395single nucleotide variantNM_001040458.3(ERAP1):c.1680-28T>Gnot specified [RCV003489267]benign59678657796786577Humanname
404984029CV2849397single nucleotide variantNM_001040458.3(ERAP1):c.1524+89G>Anot specified [RCV003489269]benign59679020796790207Humanname
404984035CV2849398single nucleotide variantNM_001040458.3(ERAP1):c.1452+18T>Cnot specified [RCV003489270]benign59679049496790494Humanname
404987628CV2849461single nucleotide variantNM_001040458.3(ERAP1):c.2448-38C>Tnot specified [RCV003490318]benign59678123696781236Humanname
404987842CV2849496single nucleotide variantNM_001040458.3(ERAP1):c.1943+86T>Cnot specified [RCV003490353]benign59678570296785702Humanname
404988242CV2849554single nucleotide variantNM_001040458.3(ERAP1):c.2671-29T>Anot specified [RCV003490411]benign59677658096776580Humanname
404988250CV2849555single nucleotide variantNM_001040458.3(ERAP1):c.2671-40G>Anot specified [RCV003490412]benign59677659196776591Humanname
404989780CV2849573single nucleotide variantNM_001040458.3(ERAP1):c.1525-59C>Gnot specified [RCV003490430]benign59678874496788744Humanname
404989786CV2849574single nucleotide variantNM_001040458.3(ERAP1):c.1189-10A>Gnot specified [RCV003490431]benign59679220296792202Humanname
404988407CV2849577single nucleotide variantNM_001040458.3(ERAP1):c.2447+97C>Tnot specified [RCV003490434]benign59678159696781596Humanname
404988365CV2849489duplicationNM_001040458.3(ERAP1):c.1943+121dupnot specified [RCV003490346]benign59678566696785667Humanname
404987893CV2849506duplicationNM_001040458.3(ERAP1):c.*157_*172dupnot specified [RCV003490363]benign59677622396776224Humanname
404989411CV2849550insertionNM_001040458.3(ERAP1):c.*298_*299insCAnot specified [RCV003490407]benign59677609796776098Humanname
15176558CV735290single nucleotide variantNM_001040458.3(ERAP1):c.54C>T (p.Ser18=)not provided [RCV000906456]benign59680387396803873Humanname
15157332CV699221single nucleotide variantNM_001040458.3(ERAP1):c.204T>C (p.His68=)not provided [RCV000946865]benign59680372396803723Humanname
15181521CV710078single nucleotide variantNM_001040458.3(ERAP1):c.171C>T (p.Tyr57=)not provided [RCV000974411]benign|likely benign59680375696803756Humanname
15150109CV749703single nucleotide variantNM_001040458.3(ERAP1):c.216C>T (p.Thr72=)not provided [RCV000923412]likely benign59680371196803711Humanname
401944746CV2840535single nucleotide variantNM_001040458.3(ERAP1):c.468G>A (p.Ser156=)not provided [RCV003457437]likely benign59680345996803459Humanname
404984190CV2849346duplicationNM_001040458.3(ERAP1):c.2100+46_2100+47dupnot specified [RCV003489218]benign59678387696783877Humanname
404987425CV2849430duplicationNM_001040458.3(ERAP1):c.2100+47_2100+48dupnot specified [RCV003490287]benign59678387596783876Humanname
404987804CV2849490single nucleotide variantNM_001040458.3(ERAP1):c.35C>T (p.Thr12Ile)not specified [RCV003490347]benign59680389296803892Humanname
407479532CV3441922single nucleotide variantNM_001040458.3(ERAP1):c.91T>C (p.Trp31Arg)not specified [RCV004617798]uncertain significance59680383696803836Humanname
15119267CV749702single nucleotide variantNM_001040458.3(ERAP1):c.357C>T (p.Pro119=)not provided [RCV000918117]benign59680357096803570Humanname
15140645CV765398single nucleotide variantNM_001040458.3(ERAP1):c.423C>T (p.Val141=)not provided [RCV000943754]likely benign59680350496803504Humanname
150465402CV1277234single nucleotide variantNM_001040458.3(ERAP1):c.1068T>C (p.Ala356=)not provided [RCV001710528]|not specified [RCV003487738]benign59679380996793809Humanname
155984740CV2247790single nucleotide variantNM_001040458.3(ERAP1):c.218C>A (p.Thr73Lys)not specified [RCV004121257]uncertain significance59680370996803709Humanname
156359167CV2328155single nucleotide variantNM_001040458.3(ERAP1):c.218C>T (p.Thr73Met)not specified [RCV004173256]uncertain significance59680370996803709Humanname
401769412CV2689713single nucleotide variantNM_001040458.3(ERAP1):c.122G>A (p.Arg41His)not specified [RCV004297630]uncertain significance59680380596803805Humanname
401915270CV2827894single nucleotide variantNM_001040458.3(ERAP1):c.2496T>C (p.Phe832=)not provided [RCV003428561]benign59678115096781150Humanname
404984042CV2849399single nucleotide variantNM_001040458.3(ERAP1):c.1359T>C (p.Ser453=)not specified [RCV003489271]benign59679060596790605Humanname
404984468CV2849406single nucleotide variantNM_001040458.3(ERAP1):c.1911G>A (p.Ala637=)not specified [RCV003489278]benign59678582096785820Humanname
404987717CV2849474single nucleotide variantNM_001040458.3(ERAP1):c.1251C>T (p.His417=)not specified [RCV003490331]benign59679213096792130Humanname
404988257CV2849556single nucleotide variantNM_001040458.3(ERAP1):c.2542C>T (p.Leu848=)not specified [RCV003490413]benign59678110496781104Humanname
598129775CV3887196single nucleotide variantNM_001040458.3(ERAP1):c.1020T>C (p.Ser340=)not provided [RCV005245256]likely benign59679385796793857Humanname
15159502CV721604single nucleotide variantNM_001040458.3(ERAP1):c.2787C>T (p.Ile929=)not provided [RCV000881208]benign59677643596776435Humanname
15183975CV721605single nucleotide variantNM_001040458.3(ERAP1):c.2367T>C (p.Tyr789=)not provided [RCV000886343]benign59678177396781773Humanname
15108026CV721606single nucleotide variantNM_001040458.3(ERAP1):c.2229C>T (p.Cys743=)not provided [RCV000893592]benign59678310796783107Humanname
15190900CV721607single nucleotide variantNM_001040458.3(ERAP1):c.1938C>T (p.Leu646=)not provided [RCV000888229]benign59678579396785793Humanname
15175224CV721608single nucleotide variantNM_001040458.3(ERAP1):c.1617G>C (p.Gly539=)not provided [RCV000884314]benign59678859396788593Humanname
15192271CV735289single nucleotide variantNM_001040458.3(ERAP1):c.1218C>T (p.Asp406=)not provided [RCV000910489]benign59679216396792163Humanname
15109558CV749700single nucleotide variantNM_001040458.3(ERAP1):c.2430T>C (p.Asn810=)not provided [RCV000916361]likely benign59678171096781710Humanname
15194438CV765396single nucleotide variantNM_001040458.3(ERAP1):c.2799G>A (p.Leu933=)not provided [RCV000933645]likely benign59677642396776423Humanname
15115415CV765397single nucleotide variantNM_001040458.3(ERAP1):c.1830G>T (p.Val610=)not provided [RCV000939482]likely benign59678590196785901Humanname
10395425CV204106single nucleotide variantNM_001040458.3(ERAP1):c.955A>G (p.Met319Val)Long QT syndrome [RCV000190209]likely benign59679392296793922Human2name
156187103CV2236321single nucleotide variantNM_001040458.3(ERAP1):c.463C>T (p.Leu155Phe)not specified [RCV004108015]uncertain significance59680346496803464Humanname
156053161CV2269476single nucleotide variantNM_001040458.3(ERAP1):c.532G>T (p.Ala178Ser)not specified [RCV004124589]uncertain significance59680099396800993Humanname
155931943CV2362681single nucleotide variantNM_001040458.3(ERAP1):c.805G>C (p.Val269Leu)not specified [RCV004215327]uncertain significance59679515696795156Humanname
155970258CV2392183single nucleotide variantNM_001040458.3(ERAP1):c.605G>A (p.Ser202Asn)not specified [RCV004242531]uncertain significance59680092096800920Humanname
404987850CV2849497single nucleotide variantNM_001040458.3(ERAP1):c.828A>G (p.Ile276Met)not specified [RCV003490354]benign59679513396795133Humanname
404988438CV2849581single nucleotide variantNM_001040458.3(ERAP1):c.380G>C (p.Arg127Pro)not specified [RCV003490438]benign59680354796803547Humanname
405740184CV3249379single nucleotide variantNM_001040458.3(ERAP1):c.503G>A (p.Arg168Lys)not specified [RCV004380458]uncertain significance59680342496803424Humanname
405740192CV3249380single nucleotide variantNM_001040458.3(ERAP1):c.538A>G (p.Thr180Ala)not specified [RCV004380459]uncertain significance59680098796800987Humanname
405740196CV3249381single nucleotide variantNM_001040458.3(ERAP1):c.560C>G (p.Ala187Gly)not specified [RCV004380460]uncertain significance59680096596800965Humanname
405740202CV3249382single nucleotide variantNM_001040458.3(ERAP1):c.658C>A (p.Pro220Thr)not specified [RCV004380461]uncertain significance59680086796800867Humanname
405740210CV3249383single nucleotide variantNM_001040458.3(ERAP1):c.818C>T (p.Pro273Leu)not specified [RCV004380462]uncertain significance59679514396795143Humanname
405740217CV3249384single nucleotide variantNM_001040458.3(ERAP1):c.949G>A (p.Gly317Ser)not specified [RCV004380463]uncertain significance59679392896793928Humanname
407479540CV3441924single nucleotide variantNM_001040458.3(ERAP1):c.640C>A (p.Leu214Ile)not specified [RCV004617800]uncertain significance59680088596800885Humanname
597748227CV3671406single nucleotide variantNM_001040458.3(ERAP1):c.793G>A (p.Val265Ile)not specified [RCV004923056]uncertain significance59679718096797180Humanname
597804113CV3671407single nucleotide variantNM_001040458.3(ERAP1):c.632C>G (p.Pro211Arg)not specified [RCV004907531]uncertain significance59680089396800893Humanname
597804119CV3671412single nucleotide variantNM_001040458.3(ERAP1):c.452A>G (p.Tyr151Cys)not specified [RCV004907534]uncertain significance59680347596803475Humanname
597804121CV3671415single nucleotide variantNM_001040458.3(ERAP1):c.682G>T (p.Ala228Ser)not specified [RCV004907535]uncertain significance59679729196797291Humanname
597804124CV3671417single nucleotide variantNM_001040458.3(ERAP1):c.416T>C (p.Leu139Pro)not specified [RCV004907537]uncertain significance59680351196803511Humanname
598169965CV3961633single nucleotide variantNM_001040458.3(ERAP1):c.431C>T (p.Pro144Leu)not specified [RCV005330589]likely benign59680349696803496Humanname
15104116CV749701single nucleotide variantNM_001040458.3(ERAP1):c.551C>G (p.Pro184Arg)not provided [RCV000915290]benign59680097496800974Humanname
150471303CV1270049single nucleotide variantNM_001040458.3(ERAP1):c.1037G>A (p.Gly346Asp)not provided [RCV001695337]benign59679384096793840Humanname
156387482CV2221520single nucleotide variantNM_001040458.3(ERAP1):c.1330A>G (p.Ile444Val)not specified [RCV004096790]uncertain significance59679063496790634Humanname
155970796CV2241570single nucleotide variantNM_001040458.3(ERAP1):c.1469G>C (p.Gly490Ala)not specified [RCV004104461]uncertain significance59679035196790351Humanname
156036083CV2243470single nucleotide variantNM_001040458.3(ERAP1):c.1636C>G (p.Gln546Glu)not specified [RCV004112434]uncertain significance59678857496788574Humanname
156317933CV2251113single nucleotide variantNM_001040458.3(ERAP1):c.2659C>T (p.Arg887Trp)not specified [RCV004123653]likely benign59678043496780434Humanname
156258288CV2277729single nucleotide variantNM_001040458.3(ERAP1):c.2353C>T (p.Leu785Phe)not specified [RCV004147170]uncertain significance59678178796781787Humanname
156172260CV2286844single nucleotide variantNM_001040458.3(ERAP1):c.2332A>G (p.Ser778Gly)not specified [RCV004142646]uncertain significance59678180896781808Humanname
155903908CV2298705single nucleotide variantNM_001040458.3(ERAP1):c.2362A>G (p.Lys788Glu)not specified [RCV004156279]uncertain significance59678177896781778Humanname
156068186CV2317971single nucleotide variantNM_001040458.3(ERAP1):c.2209G>A (p.Val737Met)not specified [RCV004177091]uncertain significance59678312796783127Humanname
156293474CV2336481single nucleotide variantNM_001040458.3(ERAP1):c.1946T>C (p.Ile649Thr)not specified [RCV004194693]uncertain significance59678407896784078Humanname
156067966CV2345893single nucleotide variantNM_001040458.3(ERAP1):c.1839G>T (p.Glu613Asp)not specified [RCV004198934]uncertain significance59678589296785892Humanname
156062340CV2353769single nucleotide variantNM_001040458.3(ERAP1):c.2296G>A (p.Asp766Asn)not specified [RCV004201777]uncertain significance59678184496781844Humanname
155938013CV2364954single nucleotide variantNM_001040458.3(ERAP1):c.2012T>A (p.Met671Lys)not specified [RCV004222247]uncertain significance59678401296784012Humanname
155927868CV2365998single nucleotide variantNM_001040458.3(ERAP1):c.1296G>T (p.Met432Ile)not specified [RCV004207599]uncertain significance59679208596792085Humanname
155991693CV2379227single nucleotide variantNM_001040458.3(ERAP1):c.2689T>C (p.Ser897Pro)not specified [RCV004223707]uncertain significance59677653396776533Humanname
156190686CV2391157single nucleotide variantNM_001040458.3(ERAP1):c.1210T>C (p.Cys404Arg)not specified [RCV004237181]uncertain significance59679217196792171Humanname
329360837CV2439815single nucleotide variantNM_001040458.3(ERAP1):c.2471G>C (p.Gly824Ala)not specified [RCV004255815]uncertain significance59678117596781175Humanname
329377543CV2462577single nucleotide variantNM_001040458.3(ERAP1):c.1285A>G (p.Ile429Val)not specified [RCV004278527]uncertain significance59679209696792096Humanname
401722200CV2680860single nucleotide variantNM_001040458.3(ERAP1):c.2551C>A (p.Gln851Lys)not specified [RCV004293506]likely benign59678109596781095Humanname
401769664CV2689879single nucleotide variantNM_001040458.3(ERAP1):c.1522T>A (p.Ser508Thr)not specified [RCV004297776]uncertain significance59679029896790298Humanname
401773556CV2695283single nucleotide variantNM_001040458.3(ERAP1):c.2677G>A (p.Gly893Arg)not specified [RCV004303411]uncertain significance59677654596776545Humanname
401864782CV2778041single nucleotide variantNM_001040458.3(ERAP1):c.2640T>G (p.Asn880Lys)not specified [RCV004347995]uncertain significance59678045396780453Humanname
401891825CV2780824single nucleotide variantNM_001040458.3(ERAP1):c.1714A>G (p.Ser572Gly)not specified [RCV004352142]uncertain significance59678651596786515Humanname
401917763CV2827895single nucleotide variantNM_001040458.3(ERAP1):c.1939G>A (p.Val647Ile)not provided [RCV003429708]benign59678579296785792Humanname
401917765CV2827896single nucleotide variantNM_001040458.3(ERAP1):c.1852G>T (p.Asp618Tyr)not provided [RCV003429709]|not specified [RCV004621795]likely benign|uncertain significance59678587996785879Humanname
404984022CV2849396single nucleotide variantNM_001040458.3(ERAP1):c.1583A>G (p.Lys528Arg)not specified [RCV003489268]benign59678862796788627Humanname
404988078CV2849532single nucleotide variantNM_001040458.3(ERAP1):c.1723G>A (p.Asp575Asn)not specified [RCV003490389]benign59678650696786506Humanname
404988086CV2849533single nucleotide variantNM_001040458.3(ERAP1):c.1045A>G (p.Met349Val)not specified [RCV003490390]benign59679383296793832Humanname
404988150CV2849542single nucleotide variantNM_001040458.3(ERAP1):c.2174G>A (p.Arg725Gln)not specified [RCV003490399]benign59678316296783162Human6name
404988361CV2849569single nucleotide variantNM_001040458.3(ERAP1):c.2188C>G (p.Gln730Glu)not specified [RCV003490426]benign59678314896783148Human5name
405740108CV3249369single nucleotide variantNM_001040458.3(ERAP1):c.1162A>G (p.Ser388Gly)not specified [RCV004380448]uncertain significance59679342696793426Humanname
405740118CV3249370single nucleotide variantNM_001040458.3(ERAP1):c.1216G>A (p.Asp406Asn)not specified [RCV004380449]likely benign59679216596792165Humanname
405740124CV3249371single nucleotide variantNM_001040458.3(ERAP1):c.1219G>A (p.Ala407Thr)not specified [RCV004380450]uncertain significance59679216296792162Humanname
405740132CV3249372single nucleotide variantNM_001040458.3(ERAP1):c.1339A>G (p.Met447Val)not specified [RCV004380451]uncertain significance59679062596790625Humanname
405740908CV3249373single nucleotide variantNM_001040458.3(ERAP1):c.1482G>A (p.Met494Ile)not specified [RCV004380452]uncertain significance59679033896790338Humanname
405740143CV3249374single nucleotide variantNM_001040458.3(ERAP1):c.1666G>A (p.Ala556Thr)not specified [RCV004380453]likely benign59678854496788544Humanname
405740150CV3249375single nucleotide variantNM_001040458.3(ERAP1):c.1691A>G (p.His564Arg)not specified [RCV004380454]uncertain significance59678653896786538Humanname
405740159CV3249376single nucleotide variantNM_001040458.3(ERAP1):c.1736G>A (p.Arg579Gln)not specified [RCV004380455]uncertain significance59678649396786493Humanname
405740166CV3249377single nucleotide variantNM_001040458.3(ERAP1):c.2155G>A (p.Glu719Lys)not specified [RCV004380456]uncertain significance59678318196783181Humanname
405740175CV3249378single nucleotide variantNM_001040458.3(ERAP1):c.2669A>C (p.Glu890Ala)not specified [RCV004380457]uncertain significance59678042496780424Humanname
407479507CV3441916single nucleotide variantNM_001040458.3(ERAP1):c.2203G>A (p.Ala735Thr)not specified [RCV004617792]uncertain significance59678313396783133Humanname
407479511CV3441917single nucleotide variantNM_001040458.3(ERAP1):c.1837G>C (p.Glu613Gln)not specified [RCV004617793]uncertain significance59678589496785894Humanname
407479515CV3441918single nucleotide variantNM_001040458.3(ERAP1):c.2579T>C (p.Leu860Pro)not specified [RCV004617794]uncertain significance59678106796781067Humanname
407479519CV3441919single nucleotide variantNM_001040458.3(ERAP1):c.2810A>C (p.Lys937Thr)not specified [RCV004617795]uncertain significance59677641296776412Humanname
407479523CV3441920single nucleotide variantNM_001040458.3(ERAP1):c.2288T>C (p.Leu763Pro)not specified [RCV004617796]uncertain significance59678185296781852Humanname
407479527CV3441921single nucleotide variantNM_001040458.3(ERAP1):c.1694T>C (p.Val565Ala)not specified [RCV004617797]uncertain significance59678653596786535Humanname
407479544CV3441925single nucleotide variantNM_001040458.3(ERAP1):c.1001T>C (p.Phe334Ser)not specified [RCV004617801]uncertain significance59679387696793876Humanname
407479548CV3441926single nucleotide variantNM_001040458.3(ERAP1):c.2803A>G (p.Ser935Gly)not specified [RCV004617802]uncertain significance59677641996776419Humanname
597804111CV3671405single nucleotide variantNM_001040458.3(ERAP1):c.2401A>G (p.Ile801Val)not specified [RCV004907530]uncertain significance59678173996781739Humanname
597804115CV3671408single nucleotide variantNM_001040458.3(ERAP1):c.1366G>A (p.Ala456Thr)not specified [RCV004907532]uncertain significance59679059896790598Humanname
597804117CV3671409single nucleotide variantNM_001040458.3(ERAP1):c.2596C>G (p.Leu866Val)not specified [RCV004907533]uncertain significance59678049796780497Humanname
597748232CV3671410single nucleotide variantNM_001040458.3(ERAP1):c.1372A>G (p.Lys458Glu)not specified [RCV004923057]uncertain significance59679059296790592Humanname
597748236CV3671411single nucleotide variantNM_001040458.3(ERAP1):c.1180C>A (p.Leu394Met)not specified [RCV004923058]uncertain significance59679340896793408Humanname
597748244CV3671414single nucleotide variantNM_001040458.3(ERAP1):c.2035G>A (p.Glu679Lys)not specified [RCV004923060]uncertain significance59678398996783989Humanname
597804122CV3671416single nucleotide variantNM_001040458.3(ERAP1):c.1771C>T (p.Leu591Phe)not specified [RCV004907536]uncertain significance59678596096785960Humanname
597804126CV3671418single nucleotide variantNM_001040458.3(ERAP1):c.2237G>A (p.Arg746Lys)not specified [RCV004907538]uncertain significance59678309996783099Humanname
598169959CV3961631single nucleotide variantNM_001040458.3(ERAP1):c.2534G>C (p.Gly845Ala)not specified [RCV005330587]uncertain significance59678111296781112Humanname
598169968CV3961634single nucleotide variantNM_001040458.3(ERAP1):c.1646A>G (p.Tyr549Cys)not specified [RCV005330590]uncertain significance59678856496788564Humanname
15099813CV699220single nucleotide variantNM_001040458.3(ERAP1):c.2744T>C (p.Ile915Thr)not provided [RCV000958818]likely benign59677647896776478Humanname
15137856CV710076single nucleotide variantNM_001040458.3(ERAP1):c.1763T>G (p.Val588Gly)not provided [RCV000965690]benign59678596896785968Humanname
15176025CV710077single nucleotide variantNM_001040458.3(ERAP1):c.1540G>A (p.Gly514Arg)not provided [RCV000973089]likely benign59678867096788670Humanname
598125363CV3881563deletionNM_001040458.3(ERAP1):c.1861_1864del (p.Thr621fs)not specified [RCV005232469]uncertain significance59678586796785870Humanname
15193564CV730376single nucleotide variantNM_001750.7(CAST):c.1933-3C>TERAP1-related disorder [RCV003920728]|not provided [RCV000888982]benign59676521896765218Humantrait , alternate_id