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128 records found for search term Esyt1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
156301347CV2245071single nucleotide variantNM_015292.3(ESYT1):c.1474-28G>Anot specified [RCV004104789]uncertain significance125613408256134082Humanname
597691407CV3665133single nucleotide variantNM_015292.3(ESYT1):c.1474-26T>Cnot specified [RCV004915374]uncertain significance125613408456134084Humanname
156044701CV2340125single nucleotide variantNM_015292.3(ESYT1):c.19G>A (p.Glu7Lys)not specified [RCV004192364]uncertain significance125612833856128338Humanname
15160387CV725199single nucleotide variantNM_015292.3(ESYT1):c.246C>G (p.Leu82=)not provided [RCV000881373]benign125612856556128565Humanname
156027577CV2242472single nucleotide variantNM_015292.3(ESYT1):c.82C>T (p.Pro28Ser)not specified [RCV004111463]uncertain significance125612840156128401Humanname
155969034CV2391530single nucleotide variantNM_015292.3(ESYT1):c.85G>A (p.Ala29Thr)not specified [RCV004239915]likely benign125612840456128404Humanname
401727126CV2684480single nucleotide variantNM_015292.3(ESYT1):c.83C>G (p.Pro28Arg)not specified [RCV004291553]uncertain significance125612840256128402Humanname
407481218CV3438348single nucleotide variantNM_015292.3(ESYT1):c.38C>T (p.Pro13Leu)not specified [RCV004618166]uncertain significance125612835756128357Humanname
597691417CV3665134single nucleotide variantNM_015292.3(ESYT1):c.35G>A (p.Ser12Asn)not specified [RCV004915375]uncertain significance125612835456128354Humanname
598193260CV3958302single nucleotide variantNM_015292.3(ESYT1):c.40A>G (p.Met14Val)not specified [RCV005335152]likely benign125612835956128359Humanname
156346254CV2373044single nucleotide variantNM_015292.3(ESYT1):c.286G>A (p.Asp96Asn)not specified [RCV004224070]uncertain significance125612860556128605Humanname
401725620CV2721859single nucleotide variantNM_015292.3(ESYT1):c.287A>G (p.Asp96Gly)not specified [RCV004326371]uncertain significance125612860656128606Humanname
405758223CV3255968single nucleotide variantNM_015292.3(ESYT1):c.145G>T (p.Gly49Cys)not specified [RCV004383033]uncertain significance125612846456128464Humanname
597691465CV3665139single nucleotide variantNM_015292.3(ESYT1):c.283C>T (p.Arg95Cys)not specified [RCV004915380]uncertain significance125612860256128602Humanname
597691518CV3665144single nucleotide variantNM_015292.3(ESYT1):c.232G>A (p.Val78Met)not specified [RCV004915385]uncertain significance125612855156128551Humanname
15187020CV702420single nucleotide variantNM_015292.3(ESYT1):c.1584G>A (p.Ala528=)not provided [RCV000953462]benign125613438056134380Humanname
15107886CV713639single nucleotide variantNM_015292.3(ESYT1):c.1821G>T (p.Thr607=)not provided [RCV000960381]benign125613725656137256Humanname
15139036CV713640single nucleotide variantNM_015292.3(ESYT1):c.2121C>T (p.Ile707=)not provided [RCV000965896]benign125613783756137837Humanname
156318095CV2251139single nucleotide variantNM_015292.3(ESYT1):c.799C>T (p.Arg267Cys)not specified [RCV004123673]uncertain significance125613156156131561Humanname
156165691CV2270363single nucleotide variantNM_015292.3(ESYT1):c.574C>T (p.Arg192Cys)not specified [RCV004135563]uncertain significance125613104656131046Humanname
156013590CV2300453single nucleotide variantNM_015292.3(ESYT1):c.371A>G (p.His124Arg)not specified [RCV004153645]uncertain significance125612869056128690Humanname
156203801CV2300763single nucleotide variantNM_015292.3(ESYT1):c.362A>G (p.Tyr121Cys)not specified [RCV004155694]uncertain significance125612868156128681Humanname
156359530CV2328228single nucleotide variantNM_015292.3(ESYT1):c.424C>G (p.Leu142Val)not specified [RCV004173317]uncertain significance125613061556130615Humanname
156079274CV2337261single nucleotide variantNM_015292.3(ESYT1):c.752T>C (p.Ile251Thr)not specified [RCV004185715]uncertain significance125613151456131514Humanname
156185158CV2346497single nucleotide variantNM_015292.3(ESYT1):c.481C>G (p.Leu161Val)not specified [RCV004206420]uncertain significance125613083956130839Humanname
155996967CV2398632single nucleotide variantNM_015292.3(ESYT1):c.784A>C (p.Met262Leu)not specified [RCV004237939]uncertain significance125613154656131546Humanname
329357565CV2427767single nucleotide variantNM_015292.3(ESYT1):c.298C>G (p.Arg100Gly)not specified [RCV004252548]uncertain significance125612861756128617Humanname
329372965CV2451747single nucleotide variantNM_015292.3(ESYT1):c.803C>T (p.Pro268Leu)not specified [RCV004276440]uncertain significance125613156556131565Humanname
401728020CV2675914single nucleotide variantNM_015292.3(ESYT1):c.618G>T (p.Gln206His)not specified [RCV004281913]uncertain significance125613109056131090Humanname
401744726CV2697059single nucleotide variantNM_015292.3(ESYT1):c.671A>C (p.Glu224Ala)not specified [RCV004293044]uncertain significance125613127356131273Humanname
401760818CV2715943single nucleotide variantNM_015292.3(ESYT1):c.377A>G (p.Glu126Gly)not specified [RCV004329046]uncertain significance125612869656128696Humanname
405758290CV3255978single nucleotide variantNM_015292.3(ESYT1):c.307C>G (p.Arg103Gly)not specified [RCV004383043]uncertain significance125612862656128626Humanname
405758302CV3255980single nucleotide variantNM_015292.3(ESYT1):c.577A>G (p.Ile193Val)not specified [RCV004383045]uncertain significance125613104956131049Humanname
405758309CV3255981single nucleotide variantNM_015292.3(ESYT1):c.907G>T (p.Val303Leu)not specified [RCV004383046]uncertain significance125613225556132255Humanname
405758323CV3255983single nucleotide variantNM_015292.3(ESYT1):c.920G>A (p.Arg307Gln)not specified [RCV004383048]uncertain significance125613226856132268Humanname
407481213CV3438347single nucleotide variantNM_015292.3(ESYT1):c.560G>T (p.Gly187Val)not specified [RCV004618165]uncertain significance125613091856130918Humanname
407481234CV3438351single nucleotide variantNM_015292.3(ESYT1):c.299G>A (p.Arg100Gln)not specified [RCV004618169]uncertain significance125612861856128618Humanname
407481239CV3438352single nucleotide variantNM_015292.3(ESYT1):c.548G>T (p.Arg183Leu)not specified [RCV004618170]uncertain significance125613090656130906Humanname
407481250CV3438354single nucleotide variantNM_015292.3(ESYT1):c.564A>C (p.Glu188Asp)not specified [RCV004618172]uncertain significance125613092256130922Humanname
407481255CV3438355single nucleotide variantNM_015292.3(ESYT1):c.590A>C (p.Lys197Thr)not specified [RCV004618173]uncertain significance125613106256131062Humanname
597691428CV3665135single nucleotide variantNM_015292.3(ESYT1):c.730C>T (p.Arg244Trp)not specified [RCV004915376]uncertain significance125613149256131492Humanname
597691475CV3665140single nucleotide variantNM_015292.3(ESYT1):c.724G>T (p.Val242Phe)not specified [RCV004915381]uncertain significance125613148656131486Humanname
597691494CV3665142single nucleotide variantNM_015292.3(ESYT1):c.871G>C (p.Asp291His)not specified [RCV004915383]uncertain significance125613221956132219Humanname
598193245CV3958299single nucleotide variantNM_015292.3(ESYT1):c.995G>A (p.Arg332Gln)not specified [RCV005335149]uncertain significance125613243156132431Humanname
598193270CV3958304single nucleotide variantNM_015292.3(ESYT1):c.784A>G (p.Met262Val)not specified [RCV005335154]uncertain significance125613154656131546Humanname
156263449CV2201168single nucleotide variantNM_015292.3(ESYT1):c.1016G>A (p.Arg339Gln)not specified [RCV004077319]uncertain significance125613245256132452Humanname
156371006CV2204403single nucleotide variantNM_015292.3(ESYT1):c.2530G>A (p.Val844Ile)not specified [RCV004079216]likely benign125613895156138951Humanname
156329941CV2213941single nucleotide variantNM_015292.3(ESYT1):c.1910C>T (p.Thr637Met)not specified [RCV004083665]uncertain significance125613734556137345Humanname
155923338CV2215594single nucleotide variantNM_015292.3(ESYT1):c.1316A>C (p.Gln439Pro)not specified [RCV004089355]uncertain significance125613361056133610Humanname
155967253CV2216818single nucleotide variantNM_015292.3(ESYT1):c.2822C>T (p.Ser941Leu)not specified [RCV004083253]uncertain significance125614266656142666Humanname
156401690CV2217551single nucleotide variantNM_015292.3(ESYT1):c.2805T>A (p.Ser935Arg)not specified [RCV004090086]uncertain significance125614264956142649Humanname
156023614CV2233513single nucleotide variantNM_015292.3(ESYT1):c.1739G>T (p.Ser580Ile)not specified [RCV004099996]uncertain significance125613685056136850Humanname
156230002CV2235019single nucleotide variantNM_015292.3(ESYT1):c.1058A>G (p.Glu353Gly)not specified [RCV004113206]uncertain significance125613249456132494Humanname
156315931CV2250841single nucleotide variantNM_015292.3(ESYT1):c.2166C>A (p.Asp722Glu)not specified [RCV004129698]uncertain significance125613788256137882Humanname
156023710CV2273796single nucleotide variantNM_015292.3(ESYT1):c.1444G>A (p.Val482Ile)not specified [RCV004132434]uncertain significance125613384456133844Humanname
155990998CV2281026single nucleotide variantNM_015292.3(ESYT1):c.1979T>C (p.Ile660Thr)not specified [RCV004145516]uncertain significance125613753956137539Humanname
155998251CV2287127single nucleotide variantNM_015292.3(ESYT1):c.2432C>T (p.Pro811Leu)not specified [RCV004144994]uncertain significance125613849856138498Humanname
156186815CV2292419single nucleotide variantNM_015292.3(ESYT1):c.1500C>A (p.Asn500Lys)not specified [RCV004150218]uncertain significance125613413656134136Humanname
156337437CV2343051single nucleotide variantNM_015292.3(ESYT1):c.1898G>A (p.Arg633Gln)not specified [RCV004192649]uncertain significance125613733356137333Humanname
156105858CV2352566single nucleotide variantNM_015292.3(ESYT1):c.1601A>C (p.Gln534Pro)not specified [RCV004203063]uncertain significance125613439756134397Humanname
156338639CV2370710single nucleotide variantNM_015292.3(ESYT1):c.2329T>A (p.Leu777Ile)not specified [RCV004209114]uncertain significance125613826456138264Humanname
156149612CV2394590single nucleotide variantNM_015292.3(ESYT1):c.2543G>T (p.Ser848Ile)not specified [RCV004240939]uncertain significance125613896456138964Humanname
155933481CV2399331single nucleotide variantNM_015292.3(ESYT1):c.2515C>A (p.Gln839Lys)not specified [RCV004242621]uncertain significance125613893656138936Humanname
329367709CV2427518single nucleotide variantNM_015292.3(ESYT1):c.1457G>A (p.Arg486Gln)not specified [RCV004250156]uncertain significance125613385756133857Humanname
329375740CV2431482single nucleotide variantNM_015292.3(ESYT1):c.2908G>A (p.Gly970Arg)not specified [RCV004254644]uncertain significance125614285456142854Humanname
329365832CV2441140single nucleotide variantNM_015292.3(ESYT1):c.1174G>A (p.Glu392Lys)not specified [RCV004263540]uncertain significance125613273156132731Humanname
329363515CV2442252single nucleotide variantNM_015292.3(ESYT1):c.1745G>T (p.Gly582Val)not specified [RCV004264739]uncertain significance125613685656136856Humanname
329368968CV2450481single nucleotide variantNM_015292.3(ESYT1):c.2936T>C (p.Leu979Pro)not specified [RCV004265402]uncertain significance125614288256142882Humanname
401736358CV2688767single nucleotide variantNM_015292.3(ESYT1):c.1981G>A (p.Ala661Thr)not specified [RCV004303793]uncertain significance125613754156137541Humanname
401762249CV2699572single nucleotide variantNM_015292.3(ESYT1):c.1588C>T (p.Arg530Trp)not specified [RCV004299769]uncertain significance125613438456134384Humanname
401765039CV2701757single nucleotide variantNM_015292.3(ESYT1):c.2054G>A (p.Arg685Gln)not specified [RCV004314156]uncertain significance125613761456137614Humanname
401738699CV2708109single nucleotide variantNM_015292.3(ESYT1):c.1282G>A (p.Val428Ile)not specified [RCV004311485]uncertain significance125613345456133454Humanname
401783761CV2723923single nucleotide variantNM_015292.3(ESYT1):c.1756A>G (p.Arg586Gly)not specified [RCV004327834]uncertain significance125613686756136867Humanname
401770735CV2726244single nucleotide variantNM_015292.3(ESYT1):c.2567C>T (p.Pro856Leu)not specified [RCV004326700]uncertain significance125613898856138988Humanname
401893211CV2755296single nucleotide variantNM_015292.3(ESYT1):c.2996G>A (p.Arg999Gln)not specified [RCV004337470]uncertain significance125614302556143025Humanname
401866431CV2762642single nucleotide variantNM_015292.3(ESYT1):c.2134C>T (p.Pro712Ser)not specified [RCV004340205]uncertain significance125613785056137850Humanname
401862546CV2768357single nucleotide variantNM_015292.3(ESYT1):c.1300C>T (p.Pro434Ser)not specified [RCV004350615]uncertain significance125613359456133594Humanname
401865541CV2778812single nucleotide variantNM_015292.3(ESYT1):c.1999G>A (p.Gly667Arg)not specified [RCV004346710]uncertain significance125613755956137559Humanname
401885509CV2783318single nucleotide variantNM_015292.3(ESYT1):c.1295G>T (p.Trp432Leu)not specified [RCV004363918]uncertain significance125613358956133589Humanname
401877866CV2786832single nucleotide variantNM_015292.3(ESYT1):c.1363G>T (p.Ala455Ser)not specified [RCV004365993]uncertain significance125613365756133657Humanname
405758209CV3255966single nucleotide variantNM_015292.3(ESYT1):c.1121T>C (p.Ile374Thr)not specified [RCV004383031]uncertain significance125613255756132557Humanname
405758217CV3255967single nucleotide variantNM_015292.3(ESYT1):c.1219C>G (p.Pro407Ala)not specified [RCV004383032]uncertain significance125613277656132776Humanname
405758230CV3255969single nucleotide variantNM_015292.3(ESYT1):c.1482G>T (p.Lys494Asn)not specified [RCV004383034]uncertain significance125613411856134118Humanname
405758236CV3255970single nucleotide variantNM_015292.3(ESYT1):c.1484G>A (p.Gly495Glu)not specified [RCV004383035]uncertain significance125613412056134120Humanname
405758248CV3255972single nucleotide variantNM_015292.3(ESYT1):c.1528G>A (p.Val510Met)not specified [RCV004383037]uncertain significance125613416456134164Humanname
405758256CV3255973single nucleotide variantNM_015292.3(ESYT1):c.1793T>G (p.Leu598Trp)not specified [RCV004383038]uncertain significance125613722856137228Humanname
405758262CV3255974single nucleotide variantNM_015292.3(ESYT1):c.1879A>G (p.Ser627Gly)not specified [RCV004383039]uncertain significance125613731456137314Humanname
405758270CV3255975single nucleotide variantNM_015292.3(ESYT1):c.2674G>C (p.Asp892His)not specified [RCV004383040]uncertain significance125614236656142366Humanname
405758278CV3255976single nucleotide variantNM_015292.3(ESYT1):c.2852C>G (p.Ala951Gly)not specified [RCV004383041]uncertain significance125614269656142696Humanname
405758284CV3255977single nucleotide variantNM_015292.3(ESYT1):c.2944T>C (p.Tyr982His)not specified [RCV004383042]uncertain significance125614289056142890Humanname
407481229CV3438350single nucleotide variantNM_015292.3(ESYT1):c.2597G>A (p.Arg866Gln)not specified [RCV004618168]uncertain significance125614228956142289Humanname
407481244CV3438353single nucleotide variantNM_015292.3(ESYT1):c.1117G>T (p.Val373Phe)not specified [RCV004618171]uncertain significance125613255356132553Humanname
597691380CV3665130single nucleotide variantNM_015292.3(ESYT1):c.2572A>G (p.Thr858Ala)not specified [RCV004915371]uncertain significance125613899356138993Humanname
597691391CV3665131single nucleotide variantNM_015292.3(ESYT1):c.2311C>T (p.Arg771Cys)not specified [RCV004915372]uncertain significance125613824656138246Humanname
597691398CV3665132single nucleotide variantNM_015292.3(ESYT1):c.1688G>A (p.Arg563His)not specified [RCV004915373]uncertain significance125613679956136799Humanname
597691437CV3665136single nucleotide variantNM_015292.3(ESYT1):c.1559C>T (p.Thr520Ile)not specified [RCV004915377]uncertain significance125613435556134355Humanname
597691447CV3665137single nucleotide variantNM_015292.3(ESYT1):c.2312G>A (p.Arg771His)not specified [RCV004915378]uncertain significance125613824756138247Humanname
597691455CV3665138single nucleotide variantNM_015292.3(ESYT1):c.2122G>A (p.Val708Ile)not specified [RCV004915379]uncertain significance125613783856137838Humanname
597691483CV3665141single nucleotide variantNM_015292.3(ESYT1):c.2863C>T (p.Arg955Trp)not specified [RCV004915382]uncertain significance125614270756142707Humanname
597691506CV3665143single nucleotide variantNM_015292.3(ESYT1):c.1928T>G (p.Phe643Cys)not specified [RCV004915384]uncertain significance125613736356137363Humanname
598193207CV3958292single nucleotide variantNM_015292.3(ESYT1):c.2291G>A (p.Arg764His)not specified [RCV005335142]uncertain significance125613822656138226Humanname
598193213CV3958293single nucleotide variantNM_015292.3(ESYT1):c.1991G>A (p.Arg664His)not specified [RCV005335143]uncertain significance125613755156137551Humanname
598193218CV3958294single nucleotide variantNM_015292.3(ESYT1):c.1088G>A (p.Arg363His)not specified [RCV005335144]uncertain significance125613252456132524Humanname
598193223CV3958295single nucleotide variantNM_015292.3(ESYT1):c.1838G>A (p.Gly613Asp)not specified [RCV005335145]uncertain significance125613727356137273Humanname
598193240CV3958298single nucleotide variantNM_015292.3(ESYT1):c.1087C>T (p.Arg363Cys)not specified [RCV005335148]uncertain significance125613252356132523Humanname
598193254CV3958301single nucleotide variantNM_015292.3(ESYT1):c.1248G>A (p.Met416Ile)not specified [RCV005335151]uncertain significance125613342056133420Humanname
598193265CV3958303single nucleotide variantNM_015292.3(ESYT1):c.1601A>G (p.Gln534Arg)not specified [RCV005335153]uncertain significance125613439756134397Humanname
598193276CV3958305single nucleotide variantNM_015292.3(ESYT1):c.2417G>T (p.Arg806Leu)not specified [RCV005335155]uncertain significance125613848356138483Humanname
598193281CV3958306single nucleotide variantNM_015292.3(ESYT1):c.2141A>G (p.Gln714Arg)not specified [RCV005335156]uncertain significance125613785756137857Humanname
598193286CV3958307single nucleotide variantNM_015292.3(ESYT1):c.1525G>A (p.Asp509Asn)not specified [RCV005335157]uncertain significance125613416156134161Humanname
598193296CV3958309single nucleotide variantNM_015292.3(ESYT1):c.2749C>G (p.His917Asp)not specified [RCV005335159]uncertain significance125614259356142593Humanname
598193302CV3958310single nucleotide variantNM_015292.3(ESYT1):c.2855C>G (p.Pro952Arg)not specified [RCV005335160]uncertain significance125614269956142699Humanname
598193309CV3958311single nucleotide variantNM_015292.3(ESYT1):c.2782A>G (p.Ser928Gly)not specified [RCV005335161]uncertain significance125614262656142626Humanname
598193316CV3958312single nucleotide variantNM_015292.3(ESYT1):c.2018A>G (p.Lys673Arg)not specified [RCV005335162]uncertain significance125613757856137578Humanname
598193322CV3958313single nucleotide variantNM_015292.3(ESYT1):c.2426A>G (p.Asp809Gly)not specified [RCV005335163]uncertain significance125613849256138492Humanname
598193332CV3958315single nucleotide variantNM_015292.3(ESYT1):c.2839A>T (p.Ile947Phe)not specified [RCV005335165]uncertain significance125614268356142683Humanname
156255056CV2203370single nucleotide variantNM_015292.3(ESYT1):c.3244G>C (p.Glu1082Gln)not specified [RCV004072599]uncertain significance125614359856143598Humanname
155902491CV2301450single nucleotide variantNM_015292.3(ESYT1):c.3089A>C (p.Lys1030Thr)not specified [RCV004162381]uncertain significance125614311856143118Humanname
156286769CV2334964single nucleotide variantNM_015292.3(ESYT1):c.3059G>A (p.Arg1020Gln)not specified [RCV004182061]uncertain significance125614308856143088Humanname
155931083CV2399777single nucleotide variantNM_015292.3(ESYT1):c.3209G>A (p.Arg1070His)not specified [RCV004245589]uncertain significance125614331756143317Humanname
401863050CV2765914single nucleotide variantNM_015292.3(ESYT1):c.3004G>C (p.Gly1002Arg)not specified [RCV004337942]uncertain significance125614303356143033Humanname
401863216CV2776827single nucleotide variantNM_015292.3(ESYT1):c.3013C>T (p.Pro1005Ser)not specified [RCV004357970]uncertain significance125614304256143042Humanname
405758295CV3255979single nucleotide variantNM_015292.3(ESYT1):c.3265G>A (p.Val1089Ile)not specified [RCV004383044]uncertain significance125614361956143619Humanname
407481224CV3438349single nucleotide variantNM_015292.3(ESYT1):c.3207G>C (p.Glu1069Asp)not specified [RCV004618167]uncertain significance125614331556143315Humanname
598193250CV3958300single nucleotide variantNM_015292.3(ESYT1):c.3098T>C (p.Leu1033Pro)not specified [RCV005335150]uncertain significance125614312756143127Humanname
598193325CV3958314single nucleotide variantNM_015292.3(ESYT1):c.3090G>C (p.Lys1030Asn)not specified [RCV005335164]uncertain significance125614311956143119Humanname
8627336CV82480single nucleotide variantNM_001184796.1(ESYT1):c.2091C>T (p.Phe697=)Malignant melanoma [RCV000062559]not provided125613762156137621Humanname
8634793CV90013single nucleotide variantNM_001184796.1(ESYT1):c.2223G>A (p.Leu741=)Malignant melanoma [RCV000070110]not provided125613790956137909Humanname