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131 records found for search term Eps15
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405722971CV3249232single nucleotide variantNM_001981.3(EPS15):c.10G>A (p.Ala4Thr)not specified [RCV004378237]uncertain significance15151922251519222Humanname
598169719CV3965500single nucleotide variantNM_001981.3(EPS15):c.11C>A (p.Ala4Glu)not specified [RCV005330508]uncertain significance15151922151519221Humanname
597748164CV3671298single nucleotide variantNM_001981.3(EPS15):c.94G>C (p.Gly32Arg)not specified [RCV004923044]uncertain significance15147293051472930Humanname
597803917CV3671300single nucleotide variantNM_001981.3(EPS15):c.81T>G (p.Asp27Glu)not specified [RCV004907452]uncertain significance15147294351472943Humanname
155913780CV2245957single nucleotide variantNM_001981.3(EPS15):c.196G>A (p.Gly66Ser)not specified [RCV004113579]uncertain significance15147170751471707Humanname
155915778CV2339205single nucleotide variantNM_001981.3(EPS15):c.233G>A (p.Arg78His)not specified [RCV004191449]uncertain significance15146854951468549Humanname
401734655CV2690644single nucleotide variantNM_001981.3(EPS15):c.181G>C (p.Asp61His)not specified [RCV004298381]uncertain significance15147172251471722Humanname
407479236CV3441848single nucleotide variantNM_001981.3(EPS15):c.181G>A (p.Asp61Asn)not specified [RCV004617724]uncertain significance15147172251471722Humanname
155926658CV2345231single nucleotide variantNM_001981.3(EPS15):c.370G>T (p.Val124Leu)not specified [RCV004195970]uncertain significance15146526651465266Humanname
156111204CV2387767single nucleotide variantNM_001981.3(EPS15):c.904G>A (p.Val302Ile)not specified [RCV004234295]likely benign15144493951444939Humanname
329392301CV2441416single nucleotide variantNM_001981.3(EPS15):c.868A>G (p.Ser290Gly)not specified [RCV004257216]uncertain significance15144497551444975Humanname
329391383CV2452290single nucleotide variantNM_001981.3(EPS15):c.961A>C (p.Ile321Leu)not specified [RCV004278971]uncertain significance15144042651440426Humanname
329353388CV2469196single nucleotide variantNM_001981.3(EPS15):c.745C>T (p.Arg249Cys)not specified [RCV004280548]uncertain significance15144701251447012Humanname
401779843CV2676704single nucleotide variantNM_001981.3(EPS15):c.860A>G (p.His287Arg)not specified [RCV004290881]uncertain significance15144498351444983Humanname
401751524CV2727028single nucleotide variantNM_001981.3(EPS15):c.910A>C (p.Thr304Pro)not specified [RCV004325406]uncertain significance15144493351444933Humanname
401877578CV2769589single nucleotide variantNM_001981.3(EPS15):c.319A>G (p.Ser107Gly)not specified [RCV004351235]uncertain significance15146531751465317Humanname
407479240CV3441849single nucleotide variantNM_001981.3(EPS15):c.840T>A (p.Asp280Glu)not specified [RCV004617725]uncertain significance15144500351445003Humanname
597803910CV3671296single nucleotide variantNM_001981.3(EPS15):c.622G>T (p.Ala208Ser)not specified [RCV004907449]uncertain significance15144807551448075Humanname
598169687CV3965489single nucleotide variantNM_001981.3(EPS15):c.458C>T (p.Pro153Leu)not specified [RCV005330497]uncertain significance15146371651463716Humanname
598169690CV3965490single nucleotide variantNM_001981.3(EPS15):c.430G>A (p.Gly144Arg)not specified [RCV005330498]uncertain significance15146374451463744Humanname
598169704CV3965495single nucleotide variantNM_001981.3(EPS15):c.950A>G (p.Gln317Arg)not specified [RCV005330503]uncertain significance15144489351444893Humanname
598169710CV3965497single nucleotide variantNM_001981.3(EPS15):c.917A>G (p.Glu306Gly)not specified [RCV005330505]uncertain significance15144492651444926Humanname
156082213CV2205420single nucleotide variantNM_001981.3(EPS15):c.1401T>G (p.Ser467Arg)not specified [RCV004082365]uncertain significance15140820751408207Humanname
156327965CV2217385single nucleotide variantNM_001981.3(EPS15):c.1831C>G (p.Pro611Ala)not specified [RCV004087817]uncertain significance15140248651402486Humanname
156020058CV2230224single nucleotide variantNM_001981.3(EPS15):c.2129C>T (p.Pro710Leu)not specified [RCV004099850]uncertain significance15136602051366020Humanname
156206713CV2297987single nucleotide variantNM_001981.3(EPS15):c.2602G>A (p.Glu868Lys)not specified [RCV004157903]uncertain significance15135678951356789Humanname
156093497CV2300227single nucleotide variantNM_001981.3(EPS15):c.2551T>C (p.Ser851Pro)not specified [RCV004153197]uncertain significance15135684051356840Humanname
156129124CV2364572single nucleotide variantNM_001981.3(EPS15):c.1133A>T (p.Gln378Leu)not specified [RCV004217428]uncertain significance15140967751409677Humanname
155936402CV2380427single nucleotide variantNM_001981.3(EPS15):c.1207G>A (p.Glu403Lys)not specified [RCV004218030]uncertain significance15140960351409603Humanname
155907930CV2387164single nucleotide variantNM_001981.3(EPS15):c.2405T>C (p.Leu802Pro)not specified [RCV004238271]uncertain significance15136131051361310Humanname
156004422CV2400984single nucleotide variantNM_001981.3(EPS15):c.2540G>A (p.Ser847Asn)not specified [RCV004244268]uncertain significance15136117551361175Humanname
329390064CV2441306single nucleotide variantNM_001981.3(EPS15):c.2539A>T (p.Ser847Cys)not specified [RCV004257122]uncertain significance15136117651361176Humanname
329356197CV2442510single nucleotide variantNM_001981.3(EPS15):c.2006C>T (p.Ser669Leu)not specified [RCV004266744]uncertain significance15139907851399078Humanname
329383357CV2445768single nucleotide variantNM_001981.3(EPS15):c.2027C>T (p.Ala676Val)not specified [RCV004259829]uncertain significance15139905751399057Humanname
329363068CV2449727single nucleotide variantNM_001981.3(EPS15):c.2036A>G (p.Asn679Ser)not specified [RCV004268625]uncertain significance15139904851399048Humanname
401731812CV2690147single nucleotide variantNM_001981.3(EPS15):c.1577A>G (p.Tyr526Cys)not specified [RCV004300377]uncertain significance15140600551406005Humanname
401739165CV2722072single nucleotide variantNM_001981.3(EPS15):c.2569G>A (p.Glu857Lys)not specified [RCV004326550]uncertain significance15135682251356822Humanname
401753252CV2722407single nucleotide variantNM_001981.3(EPS15):c.1330G>A (p.Glu444Lys)not specified [RCV004322810]uncertain significance15140827851408278Humanname
401890230CV2758897single nucleotide variantNM_001981.3(EPS15):c.1514A>G (p.His505Arg)not specified [RCV004339980]uncertain significance15140606851406068Humanname
401859778CV2768333single nucleotide variantNM_001981.3(EPS15):c.2260A>G (p.Lys754Glu)not specified [RCV004350598]uncertain significance15136396551363965Humanname
401866257CV2775479single nucleotide variantNM_001981.3(EPS15):c.1462G>A (p.Glu488Lys)not specified [RCV004350660]uncertain significance15140814651408146Humanname
401863213CV2776826single nucleotide variantNM_001981.3(EPS15):c.1043A>G (p.Glu348Gly)not specified [RCV004357969]uncertain significance15142185651421856Humanname
405722979CV3249233single nucleotide variantNM_001981.3(EPS15):c.1268C>T (p.Ala423Val)not specified [RCV004378238]uncertain significance15140954251409542Humanname
405722983CV3249234single nucleotide variantNM_001981.3(EPS15):c.1571C>T (p.Thr524Ile)not specified [RCV004378239]uncertain significance15140601151406011Humanname
405722990CV3249235single nucleotide variantNM_001981.3(EPS15):c.1625A>G (p.His542Arg)not specified [RCV004378240]uncertain significance15140595751405957Humanname
405722999CV3249236single nucleotide variantNM_001981.3(EPS15):c.1825A>T (p.Thr609Ser)not specified [RCV004378241]uncertain significance15140249251402492Humanname
405723005CV3249237single nucleotide variantNM_001981.3(EPS15):c.1880G>A (p.Gly627Asp)not specified [RCV004378242]uncertain significance15140243751402437Humanname
405723018CV3249239single nucleotide variantNM_001981.3(EPS15):c.2206G>C (p.Glu736Gln)not specified [RCV004378244]uncertain significance15136401951364019Humanname
405723026CV3249240single nucleotide variantNM_001981.3(EPS15):c.2432G>A (p.Gly811Asp)not specified [RCV004378245]uncertain significance15136128351361283Humanname
405723033CV3249241single nucleotide variantNM_001981.3(EPS15):c.2521A>G (p.Ser841Gly)not specified [RCV004378246]uncertain significance15136119451361194Humanname
407479206CV3431817single nucleotide variantNM_001981.3(EPS15):c.1324A>T (p.Thr442Ser)not specified [RCV004617717]uncertain significance15140828451408284Humanname
407479210CV3431818single nucleotide variantNM_001981.3(EPS15):c.1142A>G (p.Asn381Ser)not specified [RCV004617718]uncertain significance15140966851409668Humanname
407479214CV3431819single nucleotide variantNM_001981.3(EPS15):c.1795G>C (p.Asp599His)not specified [RCV004617719]uncertain significance15140252251402522Humanname
407479221CV3431820single nucleotide variantNM_001981.3(EPS15):c.2647G>C (p.Glu883Gln)not specified [RCV004617720]uncertain significance15135674451356744Humanname
407479224CV3441845single nucleotide variantNM_001981.3(EPS15):c.1278C>G (p.Ile426Met)not specified [RCV004617721]uncertain significance15140833051408330Humanname
407479228CV3441846single nucleotide variantNM_001981.3(EPS15):c.1316A>G (p.Gln439Arg)not specified [RCV004617722]uncertain significance15140829251408292Humanname
407479231CV3441847single nucleotide variantNM_001981.3(EPS15):c.1540A>C (p.Ser514Arg)not specified [RCV004617723]uncertain significance15140604251406042Humanname
597803897CV3671290single nucleotide variantNM_001981.3(EPS15):c.1079A>G (p.Glu360Gly)not specified [RCV004907443]uncertain significance15142182051421820Humanname
597803899CV3671291single nucleotide variantNM_001981.3(EPS15):c.2201A>G (p.Asn734Ser)not specified [RCV004907444]uncertain significance15136402451364024Humanname
597803902CV3671292single nucleotide variantNM_001981.3(EPS15):c.2504A>G (p.Asn835Ser)not specified [RCV004907445]uncertain significance15136121151361211Humanname
597803904CV3671293single nucleotide variantNM_001981.3(EPS15):c.2263A>C (p.Asn755His)not specified [RCV004907446]uncertain significance15136396251363962Humanname
597803906CV3671294single nucleotide variantNM_001981.3(EPS15):c.1153C>G (p.Gln385Glu)not specified [RCV004907447]uncertain significance15140965751409657Humanname
597803908CV3671295single nucleotide variantNM_001981.3(EPS15):c.1897G>A (p.Asp633Asn)not specified [RCV004907448]uncertain significance15140093951400939Humanname
597803915CV3671299single nucleotide variantNM_001981.3(EPS15):c.2563A>G (p.Met855Val)not specified [RCV004907451]uncertain significance15135682851356828Humanname
598169692CV3965491single nucleotide variantNM_001981.3(EPS15):c.1678G>T (p.Ala560Ser)not specified [RCV005330499]uncertain significance15140353251403532Humanname
598169695CV3965492single nucleotide variantNM_001981.3(EPS15):c.1400G>A (p.Ser467Asn)not specified [RCV005330500]uncertain significance15140820851408208Humanname
598169698CV3965493single nucleotide variantNM_001981.3(EPS15):c.1580G>A (p.Cys527Tyr)not specified [RCV005330501]uncertain significance15140600251406002Humanname
598169701CV3965494single nucleotide variantNM_001981.3(EPS15):c.2051C>T (p.Ser684Leu)not specified [RCV005330502]uncertain significance15139903351399033Humanname
598169707CV3965496single nucleotide variantNM_001981.3(EPS15):c.1192C>T (p.Leu398Phe)not specified [RCV005330504]uncertain significance15140961851409618Humanname
598169717CV3965499single nucleotide variantNM_001981.3(EPS15):c.2437G>A (p.Asp813Asn)not specified [RCV005330507]uncertain significance15136127851361278Humanname
405871647CV3397996single nucleotide variantNM_001258374.3(EPS15L1):c.1108-8A>Gnot provided [RCV004574996]likely benign191641764516417645Humanname
8628229CV83373single nucleotide variantNM_021235.2(EPS15L1):c.1860C>T (p.Phe620=)Malignant melanoma [RCV000063453]not provided191639539916395399Humanname
8628228CV83372single nucleotide variantNM_021235.2(EPS15L1):c.2564C>T (p.Ser855Leu)Malignant melanoma [RCV000063452]not provided191636180116361801Humanname
155265955CV1696142deletionNM_001258374.3(EPS15L1):c.409del (p.Ser137fs)not provided [RCV002280856]uncertain significance191643445416434454Humanname
597803925CV3671305single nucleotide variantNM_001258374.3(EPS15L1):c.121C>G (p.Leu41Val)not specified [RCV004907456]uncertain significance191644193616441936Humanname
155940523CV2222177single nucleotide variantNM_001258374.3(EPS15L1):c.843G>C (p.Glu281Asp)not specified [RCV004104928]uncertain significance191642142616421426Humanname
156118788CV2279148single nucleotide variantNM_001258374.3(EPS15L1):c.652G>A (p.Val218Met)not specified [RCV004139387]uncertain significance191642522316425223Humanname
156142585CV2296100single nucleotide variantNM_001258374.3(EPS15L1):c.632C>A (p.Pro211His)not specified [RCV004154034]uncertain significance191642524316425243Humanname
156325171CV2335178single nucleotide variantNM_001258374.3(EPS15L1):c.710G>A (p.Arg237His)not specified [RCV004184706]uncertain significance191642516516425165Humanname
329392718CV2439138single nucleotide variantNM_001258374.3(EPS15L1):c.463A>C (p.Met155Leu)not specified [RCV004266422]uncertain significance191643440016434400Humanname
329374500CV2443795single nucleotide variantNM_001258374.3(EPS15L1):c.733G>A (p.Val245Ile)not specified [RCV004258136]uncertain significance191642514216425142Humanname
401736824CV2689500single nucleotide variantNM_001258374.3(EPS15L1):c.545A>C (p.Asp182Ala)not specified [RCV004308340]uncertain significance191642871516428715Humanname
401876268CV2774431single nucleotide variantNM_001258374.3(EPS15L1):c.716C>T (p.Thr239Met)not specified [RCV004347769]uncertain significance191642515916425159Humanname
405723118CV3249251single nucleotide variantNM_001258374.3(EPS15L1):c.299C>T (p.Pro100Leu)not specified [RCV004378256]uncertain significance191643778016437780Humanname
405723129CV3249252single nucleotide variantNM_001258374.3(EPS15L1):c.341C>T (p.Pro114Leu)not specified [RCV004378257]uncertain significance191643696816436968Humanname
405723137CV3249253single nucleotide variantNM_001258374.3(EPS15L1):c.412C>T (p.Leu138Phe)not specified [RCV004378258]uncertain significance191643445116434451Humanname
407479243CV3441850single nucleotide variantNM_001258374.3(EPS15L1):c.964A>G (p.Thr322Ala)not specified [RCV004617726]uncertain significance191641809116418091Humanname
597748170CV3671303single nucleotide variantNM_001258374.3(EPS15L1):c.850C>G (p.Leu284Val)not specified [RCV004923045]uncertain significance191642141916421419Humanname
156149133CV2197074single nucleotide variantNM_001258374.3(EPS15L1):c.2008C>T (p.Arg670Cys)not specified [RCV004071512]uncertain significance191639239916392399Humanname
155924853CV2211665single nucleotide variantNM_001258374.3(EPS15L1):c.2329C>G (p.Pro777Ala)not specified [RCV004084556]uncertain significance191637717316377173Humanname
156104718CV2260598single nucleotide variantNM_001258374.3(EPS15L1):c.2251C>T (p.Pro751Ser)not specified [RCV004123367]uncertain significance191637725116377251Humanname
156026198CV2271034single nucleotide variantNM_001258374.3(EPS15L1):c.2085C>G (p.Asn695Lys)not specified [RCV004134438]uncertain significance191639232216392322Humanname
155912226CV2308701single nucleotide variantNM_001258374.3(EPS15L1):c.1658G>A (p.Ser553Asn)not specified [RCV004169030]uncertain significance191640245416402454Humanname
156272346CV2308789single nucleotide variantNM_001258374.3(EPS15L1):c.1510G>A (p.Glu504Lys)not specified [RCV004169100]uncertain significance191640384916403849Humanname
155972063CV2309367single nucleotide variantNM_001258374.3(EPS15L1):c.1921C>T (p.Pro641Ser)not specified [RCV004165516]uncertain significance191639399616393996Humanname
156299248CV2326012single nucleotide variantNM_001258374.3(EPS15L1):c.2370A>T (p.Lys790Asn)not specified [RCV004176222]uncertain significance191637713216377132Humanname
156141478CV2358406single nucleotide variantNM_001258374.3(EPS15L1):c.2425G>A (p.Glu809Lys)not specified [RCV004207300]uncertain significance191636194016361940Humanname
156210438CV2370231single nucleotide variantNM_001258374.3(EPS15L1):c.1056A>C (p.Gln352His)not specified [RCV004211106]uncertain significance191641799916417999Humanname
156347120CV2382850single nucleotide variantNM_001258374.3(EPS15L1):c.1922C>T (p.Pro641Leu)not specified [RCV004217454]uncertain significance191639399516393995Humanname
156387704CV2383327single nucleotide variantNM_001258374.3(EPS15L1):c.1660C>T (p.Arg554Cys)not specified [RCV004222368]uncertain significance191640245216402452Humanname
156165926CV2398872single nucleotide variantNM_001258374.3(EPS15L1):c.1379G>A (p.Arg460Gln)not provided [RCV003992740]|not specified [RCV004245193]likely benign|uncertain significance191640463716404637Humanname
329356967CV2460633single nucleotide variantNM_001258374.3(EPS15L1):c.1223G>A (p.Arg408Gln)not specified [RCV004270686]uncertain significance191641381616413816Humanname
329359827CV2462319single nucleotide variantNM_001258374.3(EPS15L1):c.1308G>T (p.Gln436His)not specified [RCV004266306]uncertain significance191640470816404708Humanname
329393490CV2467027single nucleotide variantNM_001258374.3(EPS15L1):c.2353G>C (p.Ala785Pro)not specified [RCV004282770]uncertain significance191637714916377149Humanname
401736600CV2683062single nucleotide variantNM_001258374.3(EPS15L1):c.1835C>T (p.Thr612Met)not specified [RCV004283837]uncertain significance191639542416395424Humanname
401783125CV2703804single nucleotide variantNM_001258374.3(EPS15L1):c.1661G>T (p.Arg554Leu)not specified [RCV004306673]uncertain significance191640245116402451Humanname
401721824CV2710180single nucleotide variantNM_001258374.3(EPS15L1):c.2339C>G (p.Pro780Arg)not specified [RCV004315222]uncertain significance191637716316377163Humanname
401738881CV2722000single nucleotide variantNM_001258374.3(EPS15L1):c.1372A>G (p.Lys458Glu)not specified [RCV004326488]uncertain significance191640464416404644Humanname
401862828CV2755451single nucleotide variantNM_001258374.3(EPS15L1):c.1601A>G (p.Lys534Arg)not provided [RCV003427746]|not specified [RCV004340042]likely benign|uncertain significance191640375816403758Humanname
401877225CV2769380single nucleotide variantNM_001258374.3(EPS15L1):c.1880A>G (p.Lys627Arg)not specified [RCV004357369]uncertain significance191639537916395379Humanname
405723042CV3249242single nucleotide variantNM_001258374.3(EPS15L1):c.1064C>T (p.Ser355Leu)not specified [RCV004378247]uncertain significance191641799116417991Humanname
405723047CV3249243single nucleotide variantNM_001258374.3(EPS15L1):c.1085C>G (p.Ser362Trp)not specified [RCV004378248]uncertain significance191641797016417970Humanname
405723055CV3249244single nucleotide variantNM_001258374.3(EPS15L1):c.1085C>T (p.Ser362Leu)not specified [RCV004378249]uncertain significance191641797016417970Humanname
405723062CV3249245single nucleotide variantNM_001258374.3(EPS15L1):c.1288C>T (p.Arg430Trp)not specified [RCV004378250]uncertain significance191640472816404728Humanname
405723073CV3249246single nucleotide variantNM_001258374.3(EPS15L1):c.1364A>C (p.Gln455Pro)not specified [RCV004378251]uncertain significance191640465216404652Humanname
405723081CV3249247single nucleotide variantNM_001258374.3(EPS15L1):c.2266T>C (p.Phe756Leu)not specified [RCV004378252]uncertain significance191637723616377236Humanname
405723094CV3249248single nucleotide variantNM_001258374.3(EPS15L1):c.2445G>C (p.Gln815His)not specified [RCV004378253]uncertain significance191636192016361920Humanname
405723101CV3249249single nucleotide variantNM_001258374.3(EPS15L1):c.2482A>G (p.Lys828Glu)not specified [RCV004378254]uncertain significance191636188316361883Humanname
405723111CV3249250single nucleotide variantNM_001258374.3(EPS15L1):c.2581A>G (p.Thr861Ala)not specified [RCV004378255]uncertain significance191636178416361784Humanname
407479247CV3441851single nucleotide variantNM_001258374.3(EPS15L1):c.2386A>T (p.Ser796Cys)not specified [RCV004617727]uncertain significance191636197916361979Humanname
407479255CV3441853single nucleotide variantNM_001258374.3(EPS15L1):c.1732G>A (p.Asp578Asn)not specified [RCV004617729]likely benign191640238016402380Humanname
407479257CV3441854single nucleotide variantNM_001258374.3(EPS15L1):c.1111A>G (p.Ser371Gly)not specified [RCV004617730]uncertain significance191641763416417634Humanname
597803919CV3671301single nucleotide variantNM_001258374.3(EPS15L1):c.2306C>A (p.Pro769His)not specified [RCV004907453]uncertain significance191637719616377196Humanname
597804028CV3671302single nucleotide variantNM_001258374.3(EPS15L1):c.1105C>A (p.Pro369Thr)not specified [RCV004907454]uncertain significance191641795016417950Humanname
597803923CV3671304single nucleotide variantNM_001258374.3(EPS15L1):c.1807A>C (p.Asn603His)not specified [RCV004907455]uncertain significance191639545216395452Humanname
597803927CV3671306single nucleotide variantNM_001258374.3(EPS15L1):c.2474T>G (p.Phe825Cys)not specified [RCV004907457]uncertain significance191636189116361891Humanname
598169722CV3965501single nucleotide variantNM_001258374.3(EPS15L1):c.1634G>A (p.Ser545Asn)not specified [RCV005330509]uncertain significance191640247816402478Humanname
598169725CV3965502single nucleotide variantNM_001258374.3(EPS15L1):c.1472T>C (p.Leu491Ser)not specified [RCV005330510]uncertain significance191640388716403887Humanname
598169728CV3965503single nucleotide variantNM_001258374.3(EPS15L1):c.2143A>G (p.Ser715Gly)not specified [RCV005330511]uncertain significance191638619216386192Humanname
598169732CV3965504single nucleotide variantNM_001258374.3(EPS15L1):c.1229A>C (p.Lys410Thr)not specified [RCV005330512]uncertain significance191641381016413810Humanname
598169735CV3965505single nucleotide variantNM_001258374.3(EPS15L1):c.1248G>C (p.Gln416His)not specified [RCV005330513]uncertain significance191641379116413791Humanname