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


212 records found for search term Heatr5a
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8583603CV118166single nucleotide variantNM_015473.3(HEATR5A):c.4966+151A>TLung cancer [RCV000098686]uncertain significance143130658131306581Humanname
8583604CV118167single nucleotide variantNM_015473.3(HEATR5A):c.1708+260T>CLung cancer [RCV000098687]uncertain significance143138020731380207Humanname
156352778CV2324045single nucleotide variantNM_015473.4(HEATR5A):c.35A>C (p.Glu12Ala)not specified [RCV004178345]uncertain significance143140294131402941Humanname
597781921CV3679323single nucleotide variantNM_015473.4(HEATR5A):c.76A>G (p.Ile26Val)not specified [RCV004931022]uncertain significance143140290031402900Humanname
156150773CV2377503single nucleotide variantNM_015473.4(HEATR5A):c.224A>G (p.Asn75Ser)not specified [RCV004225668]uncertain significance143140041531400415Humanname
155997130CV2398667single nucleotide variantNM_015473.4(HEATR5A):c.111G>C (p.Leu37Phe)not specified [RCV004240015]uncertain significance143140286531402865Humanname
401740878CV2681577single nucleotide variantNM_015473.4(HEATR5A):c.118A>G (p.Thr40Ala)not specified [RCV004292100]uncertain significance143140285831402858Humanname
401719830CV2729409single nucleotide variantNM_015473.4(HEATR5A):c.277G>A (p.Asp93Asn)not specified [RCV004332723]uncertain significance143140036231400362Humanname
405796786CV3262844single nucleotide variantNM_015473.4(HEATR5A):c.137G>A (p.Arg46Lys)not specified [RCV004401671]likely benign143140050231400502Humanname
405796796CV3262847single nucleotide variantNM_015473.4(HEATR5A):c.205C>T (p.Arg69Cys)not specified [RCV004401674]uncertain significance143140043431400434Humanname
405796811CV3262851single nucleotide variantNM_015473.4(HEATR5A):c.241A>G (p.Ser81Gly)not specified [RCV004401678]uncertain significance143140039831400398Humanname
407520852CV3440337single nucleotide variantNM_015473.4(HEATR5A):c.107T>G (p.Leu36Arg)not specified [RCV004630183]uncertain significance143140286931402869Humanname
407520858CV3440339single nucleotide variantNM_015473.4(HEATR5A):c.146A>G (p.Gln49Arg)not specified [RCV004630185]uncertain significance143140049331400493Humanname
598266791CV3967857single nucleotide variantNM_015473.4(HEATR5A):c.262G>T (p.Val88Phe)not specified [RCV005349358]uncertain significance143140037731400377Humanname
598266835CV3967872single nucleotide variantNM_015473.4(HEATR5A):c.176T>C (p.Leu59Ser)not specified [RCV005349368]uncertain significance143140046331400463Humanname
156182089CV2201862single nucleotide variantNM_015473.4(HEATR5A):c.866G>A (p.Arg289Gln)not specified [RCV004082289]uncertain significance143138891231388912Humanname
155922102CV2207405single nucleotide variantNM_015473.4(HEATR5A):c.949G>A (p.Val317Ile)not specified [RCV004088103]likely benign143138736031387360Humanname
155919071CV2254798single nucleotide variantNM_015473.4(HEATR5A):c.881T>C (p.Met294Thr)not specified [RCV004115265]uncertain significance143138889731388897Humanname
156184094CV2255408single nucleotide variantNM_015473.4(HEATR5A):c.890G>A (p.Gly297Glu)not specified [RCV004117770]uncertain significance143138888831388888Humanname
156112948CV2263712single nucleotide variantNM_015473.4(HEATR5A):c.875G>A (p.Gly292Glu)not specified [RCV004136003]uncertain significance143138890331388903Humanname
155950662CV2267889single nucleotide variantNM_015473.4(HEATR5A):c.865C>G (p.Arg289Gly)not specified [RCV004136183]uncertain significance143138891331388913Humanname
156259541CV2322238single nucleotide variantNM_015473.4(HEATR5A):c.547A>G (p.Arg183Gly)not specified [RCV004176010]uncertain significance143139524931395249Humanname
156050545CV2336601single nucleotide variantNM_015473.4(HEATR5A):c.794G>A (p.Arg265His)not specified [RCV004196848]uncertain significance143138898431388984Humanname
156284828CV2360704single nucleotide variantNM_015473.4(HEATR5A):c.593C>T (p.Ala198Val)not specified [RCV004213495]uncertain significance143139520331395203Humanname
329376698CV2428512single nucleotide variantNM_015473.4(HEATR5A):c.629T>C (p.Phe210Ser)not specified [RCV004253298]uncertain significance143139419531394195Humanname
401720088CV2705648single nucleotide variantNM_015473.4(HEATR5A):c.998T>C (p.Phe333Ser)not specified [RCV004318506]uncertain significance143138731131387311Humanname
401885732CV2774489single nucleotide variantNM_015473.4(HEATR5A):c.387A>G (p.Ile129Met)not specified [RCV004349980]uncertain significance143139873331398733Humanname
405796871CV3262869single nucleotide variantNM_015473.4(HEATR5A):c.581G>A (p.Arg194His)not specified [RCV004401696]uncertain significance143139521531395215Humanname
405796879CV3262872single nucleotide variantNM_015473.4(HEATR5A):c.633G>A (p.Met211Ile)not specified [RCV004401699]uncertain significance143139419131394191Humanname
407520841CV3440334single nucleotide variantNM_015473.4(HEATR5A):c.332C>T (p.Thr111Ile)not specified [RCV004630180]uncertain significance143140030731400307Humanname
407520845CV3440335single nucleotide variantNM_015473.4(HEATR5A):c.299G>A (p.Arg100His)not specified [RCV004630181]uncertain significance143140034031400340Humanname
407520887CV3440349single nucleotide variantNM_015473.4(HEATR5A):c.613C>A (p.Gln205Lys)not specified [RCV004630194]uncertain significance143139421131394211Humanname
597711601CV3679307single nucleotide variantNM_015473.4(HEATR5A):c.584G>A (p.Cys195Tyr)not specified [RCV004917571]uncertain significance143139521231395212Humanname
597781892CV3679309single nucleotide variantNM_015473.4(HEATR5A):c.781C>T (p.Arg261Cys)not specified [RCV004931015]uncertain significance143138899731388997Humanname
597711610CV3679312single nucleotide variantNM_015473.4(HEATR5A):c.785A>G (p.Gln262Arg)not specified [RCV004917572]uncertain significance143138899331388993Humanname
597781904CV3679313single nucleotide variantNM_015473.4(HEATR5A):c.298C>T (p.Arg100Cys)not specified [RCV004931018]uncertain significance143140034131400341Humanname
597711729CV3679332single nucleotide variantNM_015473.4(HEATR5A):c.748G>A (p.Val250Ile)not specified [RCV004917584]likely benign143139407631394076Humanname
598266798CV3967859single nucleotide variantNM_015473.4(HEATR5A):c.458G>A (p.Arg153Gln)not specified [RCV005349360]uncertain significance143139533831395338Humanname
598247049CV3967861single nucleotide variantNM_015473.4(HEATR5A):c.641C>T (p.Thr214Met)not specified [RCV005345242]uncertain significance143139418331394183Humanname
155914964CV2203894single nucleotide variantNM_015473.4(HEATR5A):c.2208G>C (p.Glu736Asp)not specified [RCV004069945]uncertain significance143135892131358921Humanname
156250416CV2232168single nucleotide variantNM_015473.4(HEATR5A):c.2310G>T (p.Glu770Asp)not specified [RCV004104971]uncertain significance143135873831358738Humanname
155941358CV2232555single nucleotide variantNM_015473.4(HEATR5A):c.1666A>C (p.Thr556Pro)not specified [RCV004099152]uncertain significance143138050931380509Humanname
156360379CV2269028single nucleotide variantNM_015473.4(HEATR5A):c.2771A>G (p.His924Arg)not specified [RCV004128424]uncertain significance143134784531347845Humanname
156361565CV2269271single nucleotide variantNM_015473.4(HEATR5A):c.1603A>G (p.Met535Val)not specified [RCV004130419]uncertain significance143138057231380572Humanname
156009101CV2294303single nucleotide variantNM_015473.4(HEATR5A):c.1097G>A (p.Arg366Gln)not specified [RCV004151431]uncertain significance143138721231387212Humanname
155952162CV2306036single nucleotide variantNM_015473.4(HEATR5A):c.2609C>G (p.Pro870Arg)not specified [RCV004161017]uncertain significance143134988831349888Humanname
156255002CV2325707single nucleotide variantNM_015473.4(HEATR5A):c.2803C>T (p.His935Tyr)not specified [RCV004180110]uncertain significance143134781331347813Humanname
156265060CV2364454single nucleotide variantNM_015473.4(HEATR5A):c.1919G>A (p.Arg640His)not specified [RCV004216932]likely benign143137185231371852Humanname
156087628CV2366410single nucleotide variantNM_015473.4(HEATR5A):c.2366C>G (p.Ser789Cys)not specified [RCV004212455]uncertain significance143135868231358682Humanname
156346106CV2377892single nucleotide variantNM_015473.4(HEATR5A):c.1916A>G (p.Gln639Arg)not specified [RCV004230463]uncertain significance143137185531371855Humanname
156008031CV2392682single nucleotide variantNM_015473.4(HEATR5A):c.1072C>T (p.Arg358Cys)not specified [RCV004247060]uncertain significance143138723731387237Humanname
329357290CV2431322single nucleotide variantNM_015473.4(HEATR5A):c.1298A>G (p.His433Arg)not specified [RCV004252444]uncertain significance143138646731386467Humanname
329400349CV2441551single nucleotide variantNM_015473.4(HEATR5A):c.1106T>C (p.Ile369Thr)not specified [RCV004257335]uncertain significance143138720331387203Humanname
329373717CV2447348single nucleotide variantNM_015473.4(HEATR5A):c.1898T>C (p.Leu633Pro)not specified [RCV004262627]uncertain significance143137187331371873Humanname
329388968CV2448545single nucleotide variantNM_015473.4(HEATR5A):c.1495A>C (p.Lys499Gln)not specified [RCV004259226]uncertain significance143138362231383622Humanname
329352186CV2452184single nucleotide variantNM_015473.4(HEATR5A):c.2966T>C (p.Leu989Ser)not specified [RCV004278893]uncertain significance143134517931345179Humanname
401740676CV2681493single nucleotide variantNM_015473.4(HEATR5A):c.1585G>A (p.Gly529Arg)not specified [RCV004292027]uncertain significance143138353231383532Humanname
401780878CV2681802single nucleotide variantNM_015473.4(HEATR5A):c.1625T>C (p.Leu542Pro)not specified [RCV004296804]uncertain significance143138055031380550Humanname
401781566CV2682041single nucleotide variantNM_015473.4(HEATR5A):c.2090T>C (p.Leu697Pro)not specified [RCV004290108]uncertain significance143135903931359039Humanname
401725752CV2687236single nucleotide variantNM_015473.4(HEATR5A):c.1432G>A (p.Val478Met)not specified [RCV004298180]uncertain significance143138368531383685Humanname
401771910CV2689638single nucleotide variantNM_015473.4(HEATR5A):c.1724G>A (p.Ser575Asn)not specified [RCV004297567]uncertain significance143137495331374953Humanname
401775685CV2692461single nucleotide variantNM_015473.4(HEATR5A):c.2425G>C (p.Glu809Gln)not specified [RCV004312218]uncertain significance143135070431350704Humanname
401773503CV2698236single nucleotide variantNM_015473.4(HEATR5A):c.1721T>C (p.Val574Ala)not specified [RCV004304797]uncertain significance143137495631374956Humanname
401783561CV2723709single nucleotide variantNM_015473.4(HEATR5A):c.2003C>T (p.Thr668Ile)not specified [RCV004325876]uncertain significance143136425731364257Humanname
401779034CV2733076single nucleotide variantNM_015473.4(HEATR5A):c.1126A>G (p.Lys376Glu)not specified [RCV004332010]uncertain significance143138718331387183Humanname
401861252CV2755502single nucleotide variantNM_015473.4(HEATR5A):c.1628G>C (p.Cys543Ser)not specified [RCV004340086]uncertain significance143138054731380547Humanname
401893519CV2765255single nucleotide variantNM_015473.4(HEATR5A):c.1076G>A (p.Arg359His)not specified [RCV004339778]uncertain significance143138723331387233Humanname
405796783CV3262843single nucleotide variantNM_015473.4(HEATR5A):c.1117C>T (p.Leu373Phe)not specified [RCV004401670]uncertain significance143138719231387192Humanname
405796789CV3262845single nucleotide variantNM_015473.4(HEATR5A):c.1864A>G (p.Ile622Val)not specified [RCV004401672]uncertain significance143137190731371907Humanname
405796791CV3262846single nucleotide variantNM_015473.4(HEATR5A):c.1992T>G (p.Ser664Arg)not specified [RCV004401673]uncertain significance143136426831364268Humanname
405796799CV3262848single nucleotide variantNM_015473.4(HEATR5A):c.2158C>T (p.Pro720Ser)not specified [RCV004401675]uncertain significance143135897131358971Humanname
405796803CV3262849single nucleotide variantNM_015473.4(HEATR5A):c.2263G>A (p.Gly755Arg)not specified [RCV004401676]uncertain significance143135878531358785Humanname
405796807CV3262850single nucleotide variantNM_015473.4(HEATR5A):c.2309A>G (p.Glu770Gly)not specified [RCV004401677]uncertain significance143135873931358739Humanname
407520830CV3440329single nucleotide variantNM_015473.4(HEATR5A):c.1871G>A (p.Ser624Asn)not specified [RCV004630177]uncertain significance143137190031371900Humanname
407520862CV3440341single nucleotide variantNM_015473.4(HEATR5A):c.2980C>T (p.Pro994Ser)not specified [RCV004630186]uncertain significance143134516531345165Humanname
407520877CV3440346single nucleotide variantNM_015473.4(HEATR5A):c.2129A>G (p.Gln710Arg)not specified [RCV004630191]uncertain significance143135900031359000Humanname
407520884CV3440348single nucleotide variantNM_015473.4(HEATR5A):c.1891G>A (p.Asp631Asn)not specified [RCV004630193]uncertain significance143137188031371880Humanname
407520891CV3440350single nucleotide variantNM_015473.4(HEATR5A):c.2875G>A (p.Ala959Thr)not specified [RCV004630195]uncertain significance143134527031345270Humanname
597781896CV3679310single nucleotide variantNM_015473.4(HEATR5A):c.2728G>A (p.Val910Met)not specified [RCV004931016]uncertain significance143134788831347888Humanname
597711637CV3679316single nucleotide variantNM_015473.4(HEATR5A):c.2546G>A (p.Gly849Asp)not specified [RCV004917575]uncertain significance143134995131349951Humanname
597781917CV3679322single nucleotide variantNM_015473.4(HEATR5A):c.2623G>A (p.Ala875Thr)not specified [RCV004931021]uncertain significance143134987431349874Humanname
597711667CV3679324single nucleotide variantNM_015473.4(HEATR5A):c.1277A>G (p.Gln426Arg)not specified [RCV004917578]uncertain significance143138648831386488Humanname
597781925CV3679325single nucleotide variantNM_015473.4(HEATR5A):c.1712C>T (p.Pro571Leu)not specified [RCV004931023]uncertain significance143137496531374965Humanname
597781929CV3679326single nucleotide variantNM_015473.4(HEATR5A):c.1888G>A (p.Gly630Ser)not specified [RCV004931024]uncertain significance143137188331371883Humanname
597711686CV3679328single nucleotide variantNM_015473.4(HEATR5A):c.2336C>G (p.Pro779Arg)not specified [RCV004917580]uncertain significance143135871231358712Humanname
597711719CV3679331single nucleotide variantNM_015473.4(HEATR5A):c.1456C>T (p.Pro486Ser)not specified [RCV004917583]uncertain significance143138366131383661Humanname
598266786CV3967855single nucleotide variantNM_015473.4(HEATR5A):c.1648C>T (p.Arg550Cys)not specified [RCV005349357]uncertain significance143138052731380527Humanname
598247042CV3967856single nucleotide variantNM_015473.4(HEATR5A):c.2464C>A (p.Arg822Ser)not specified [RCV005345241]uncertain significance143135066531350665Humanname
598266808CV3967862single nucleotide variantNM_015473.4(HEATR5A):c.1073G>A (p.Arg358His)not specified [RCV005349362]uncertain significance143138723631387236Humanname
598247062CV3967864single nucleotide variantNM_015473.4(HEATR5A):c.2635T>A (p.Ser879Thr)not specified [RCV005345244]uncertain significance143134986231349862Humanname
598266816CV3967866single nucleotide variantNM_015473.4(HEATR5A):c.1927C>T (p.Pro643Ser)not specified [RCV005349364]uncertain significance143137184431371844Humanname
598247070CV3967868single nucleotide variantNM_015473.4(HEATR5A):c.1223G>A (p.Arg408Gln)not specified [RCV005345246]uncertain significance143138654231386542Humanname
598266839CV3967873single nucleotide variantNM_015473.4(HEATR5A):c.1499C>G (p.Ser500Cys)not specified [RCV005349369]uncertain significance143138361831383618Humanname
598247083CV3967877single nucleotide variantNM_015473.4(HEATR5A):c.2012T>G (p.Val671Gly)not specified [RCV005345248]uncertain significance143136424831364248Humanname
598266856CV3967879single nucleotide variantNM_015473.4(HEATR5A):c.2027G>A (p.Arg676Lys)not specified [RCV005349373]uncertain significance143136423331364233Humanname
598266861CV3967880single nucleotide variantNM_015473.4(HEATR5A):c.1760G>A (p.Cys587Tyr)not specified [RCV005349374]uncertain significance143137491731374917Humanname
598266865CV3967881single nucleotide variantNM_015473.4(HEATR5A):c.1972A>G (p.Ile658Val)not specified [RCV005349375]uncertain significance143136428831364288Humanname
598266869CV3967882single nucleotide variantNM_015473.4(HEATR5A):c.2438A>G (p.Asp813Gly)not specified [RCV005349376]uncertain significance143135069131350691Humanname
156074996CV2198061single nucleotide variantNM_015473.4(HEATR5A):c.5330C>T (p.Ser1777Leu)not specified [RCV004079664]uncertain significance143130242931302429Humanname
156079096CV2198357single nucleotide variantNM_015473.4(HEATR5A):c.3454A>G (p.Lys1152Glu)not specified [RCV004081900]uncertain significance143132625631326256Humanname
156317040CV2203895single nucleotide variantNM_015473.4(HEATR5A):c.5993T>C (p.Leu1998Ser)not specified [RCV004069946]uncertain significance143129345331293453Humanname
156253176CV2212522single nucleotide variantNM_015473.4(HEATR5A):c.3400G>A (p.Ala1134Thr)not specified [RCV004091406]uncertain significance143132631031326310Humanname
155930259CV2224694single nucleotide variantNM_015473.4(HEATR5A):c.3800T>C (p.Val1267Ala)not specified [RCV004092530]uncertain significance143132166831321668Humanname
155977819CV2226474single nucleotide variantNM_015473.4(HEATR5A):c.3578T>C (p.Met1193Thr)not specified [RCV004099676]uncertain significance143132377431323774Humanname
156062496CV2231995single nucleotide variantNM_015473.4(HEATR5A):c.3130G>A (p.Asp1044Asn)not specified [RCV004093053]uncertain significance143134399431343994Humanname
156138465CV2236686single nucleotide variantNM_015473.4(HEATR5A):c.5405C>T (p.Thr1802Ile)not specified [RCV004110644]uncertain significance143130235431302354Humanname
156255686CV2264749single nucleotide variantNM_015473.4(HEATR5A):c.4057G>A (p.Ala1353Thr)not specified [RCV004132728]uncertain significance143131593131315931Humanname
156046293CV2268674single nucleotide variantNM_015473.4(HEATR5A):c.4667C>G (p.Thr1556Ser)not specified [RCV004124078]uncertain significance143130895731308957Humanname
156167025CV2270458single nucleotide variantNM_015473.4(HEATR5A):c.4172G>T (p.Ser1391Ile)not specified [RCV004137425]uncertain significance143131581631315816Humanname
156121623CV2276024single nucleotide variantNM_015473.4(HEATR5A):c.5938G>C (p.Ala1980Pro)not specified [RCV004141701]uncertain significance143129350831293508Humanname
156259080CV2277799single nucleotide variantNM_015473.4(HEATR5A):c.3680T>C (p.Val1227Ala)not specified [RCV004147223]uncertain significance143132367231323672Humanname
155992724CV2281239single nucleotide variantNM_015473.4(HEATR5A):c.6109T>C (p.Ser2037Pro)not specified [RCV004147487]uncertain significance143129333731293337Humanname
156129165CV2283969single nucleotide variantNM_015473.4(HEATR5A):c.6023G>A (p.Arg2008His)not specified [RCV004144278]uncertain significance143129342331293423Humanname
156154329CV2303899single nucleotide variantNM_015473.4(HEATR5A):c.3826A>G (p.Met1276Val)not specified [RCV004168181]uncertain significance143132164231321642Humanname
156098915CV2306500single nucleotide variantNM_015473.4(HEATR5A):c.5012A>C (p.Glu1671Ala)not specified [RCV004157116]uncertain significance143130513231305132Humanname
156274327CV2316367single nucleotide variantNM_015473.4(HEATR5A):c.3151G>A (p.Ala1051Thr)not specified [RCV004169870]uncertain significance143134397331343973Humanname
156049853CV2319339single nucleotide variantNM_015473.4(HEATR5A):c.4397T>C (p.Leu1466Pro)not specified [RCV004180164]uncertain significance143131301231313012Humanname
156290929CV2324955single nucleotide variantNM_015473.4(HEATR5A):c.4882A>C (p.Ile1628Leu)not specified [RCV004175210]uncertain significance143130681631306816Humanname
156177767CV2327247single nucleotide variantNM_015473.4(HEATR5A):c.3092C>T (p.Ser1031Phe)not specified [RCV004174699]uncertain significance143134403231344032Humanname
156072220CV2328739single nucleotide variantNM_015473.4(HEATR5A):c.5102C>G (p.Pro1701Arg)not specified [RCV004177969]uncertain significance143130504231305042Humanname
155919307CV2333170single nucleotide variantNM_015473.4(HEATR5A):c.3904C>G (p.Arg1302Gly)not specified [RCV004194459]uncertain significance143132156431321564Humanname
156285599CV2334861single nucleotide variantNM_015473.4(HEATR5A):c.4438G>A (p.Glu1480Lys)not specified [RCV004181969]uncertain significance143131297131312971Humanname
156050438CV2336593single nucleotide variantNM_015473.4(HEATR5A):c.4634G>A (p.Gly1545Glu)not specified [RCV004196841]uncertain significance143130899031308990Humanname
156172479CV2337601single nucleotide variantNM_015473.4(HEATR5A):c.4007C>T (p.Thr1336Ile)not specified [RCV004181165]uncertain significance143131825531318255Humanname
156291890CV2339955single nucleotide variantNM_015473.4(HEATR5A):c.3980C>T (p.Ala1327Val)not specified [RCV004192217]uncertain significance143131828231318282Humanname
155927804CV2365989single nucleotide variantNM_015473.4(HEATR5A):c.3523A>G (p.Lys1175Glu)not specified [RCV004207592]uncertain significance143132618731326187Humanname
156390404CV2373364single nucleotide variantNM_015473.4(HEATR5A):c.5794G>A (p.Val1932Ile)not specified [RCV004220071]uncertain significance143129393031293930Humanname
156169062CV2373855single nucleotide variantNM_015473.4(HEATR5A):c.5819C>G (p.Ala1940Gly)not specified [RCV004224789]uncertain significance143129390531293905Humanname
156077344CV2375098single nucleotide variantNM_015473.4(HEATR5A):c.5265A>G (p.Ile1755Met)not specified [RCV004230143]uncertain significance143130249431302494Humanname
156059957CV2391819single nucleotide variantNM_015473.4(HEATR5A):c.4721G>A (p.Arg1574His)not specified [RCV004235698]uncertain significance143130799031307990Humanname
156201276CV2392479single nucleotide variantNM_015473.4(HEATR5A):c.5500C>A (p.Leu1834Ile)not specified [RCV004244051]uncertain significance143129602831296028Humanname
155965703CV2395989single nucleotide variantNM_015473.4(HEATR5A):c.3874G>T (p.Gly1292Cys)not specified [RCV004237537]uncertain significance143132159431321594Humanname
155957878CV2396600single nucleotide variantNM_015473.4(HEATR5A):c.5165T>C (p.Leu1722Ser)not specified [RCV004240428]likely benign143130497931304979Humanname
329361295CV2436865single nucleotide variantNM_015473.4(HEATR5A):c.4763C>G (p.Ala1588Gly)not specified [RCV004260254]uncertain significance143130794831307948Humanname
329354201CV2437663single nucleotide variantNM_015473.4(HEATR5A):c.6022C>T (p.Arg2008Cys)not specified [RCV004260979]uncertain significance143129342431293424Humanname
329399780CV2444178single nucleotide variantNM_015473.4(HEATR5A):c.3194A>G (p.His1065Arg)not specified [RCV004260912]uncertain significance143134393031343930Humanname
329391837CV2453181single nucleotide variantNM_015473.4(HEATR5A):c.5147C>T (p.Thr1716Met)not specified [RCV004279557]uncertain significance143130499731304997Humanname
329396712CV2458964single nucleotide variantNM_015473.4(HEATR5A):c.5672C>T (p.Pro1891Leu)not specified [RCV004272452]uncertain significance143129405231294052Humanname
329370762CV2461853single nucleotide variantNM_015473.4(HEATR5A):c.3112G>A (p.Val1038Ile)not specified [RCV004271766]uncertain significance143134401231344012Humanname
329359653CV2462159single nucleotide variantNM_015473.4(HEATR5A):c.4273A>G (p.Thr1425Ala)not specified [RCV004266180]uncertain significance143131313631313136Humanname
401722441CV2676987single nucleotide variantNM_015473.4(HEATR5A):c.5813C>A (p.Thr1938Asn)not specified [RCV004293588]uncertain significance143129391131293911Humanname
401730039CV2683917single nucleotide variantNM_015473.4(HEATR5A):c.3308C>T (p.Ala1103Val)not specified [RCV004284637]uncertain significance143133753531337535Humanname
401772315CV2687484single nucleotide variantNM_015473.4(HEATR5A):c.3065G>A (p.Ser1022Asn)not specified [RCV004300722]uncertain significance143134405931344059Humanname
401749748CV2694735single nucleotide variantNM_015473.4(HEATR5A):c.3455A>G (p.Lys1152Arg)not specified [RCV004298822]uncertain significance143132625531326255Humanname
401747743CV2696780single nucleotide variantNM_015473.4(HEATR5A):c.5201T>C (p.Val1734Ala)not specified [RCV004290752]uncertain significance143130494331304943Humanname
401730160CV2700469single nucleotide variantNM_015473.4(HEATR5A):c.4466C>T (p.Thr1489Ile)not specified [RCV004311104]uncertain significance143130915831309158Humanname
401718341CV2708231single nucleotide variantNM_015473.4(HEATR5A):c.5281G>C (p.Gly1761Arg)not specified [RCV004311582]uncertain significance143130247831302478Humanname
401770124CV2719047single nucleotide variantNM_015473.4(HEATR5A):c.4540A>C (p.Ser1514Arg)not specified [RCV004322626]uncertain significance143130908431309084Humanname
401783477CV2723611single nucleotide variantNM_015473.4(HEATR5A):c.3593G>T (p.Gly1198Val)not specified [RCV004325793]uncertain significance143132375931323759Humanname
401889429CV2756513single nucleotide variantNM_015473.4(HEATR5A):c.3344A>G (p.Asp1115Gly)not specified [RCV004345044]uncertain significance143133749931337499Humanname
401889777CV2763385single nucleotide variantNM_015473.4(HEATR5A):c.6069G>T (p.Lys2023Asn)not specified [RCV004349275]uncertain significance143129337731293377Humanname
401878681CV2776922single nucleotide variantNM_015473.4(HEATR5A):c.4680T>A (p.His1560Gln)not specified [RCV004351739]uncertain significance143130894431308944Humanname
401910382CV2810340single nucleotide variantNM_015473.4(HEATR5A):c.5026G>A (p.Gly1676Arg)not provided [RCV003425014]likely benign143130511831305118Human7name
405796820CV3262853single nucleotide variantNM_015473.4(HEATR5A):c.3286C>A (p.Gln1096Lys)not specified [RCV004401680]uncertain significance143133755731337557Humanname
405796825CV3262854single nucleotide variantNM_015473.4(HEATR5A):c.3731A>G (p.Asn1244Ser)not specified [RCV004401681]uncertain significance143132362131323621Humanname
405796827CV3262855single nucleotide variantNM_015473.4(HEATR5A):c.3754T>G (p.Leu1252Val)not specified [RCV004401682]uncertain significance143132359831323598Humanname
405796831CV3262856single nucleotide variantNM_015473.4(HEATR5A):c.3823C>T (p.Arg1275Cys)not specified [RCV004401683]uncertain significance143132164531321645Humanname
405796835CV3262857single nucleotide variantNM_015473.4(HEATR5A):c.3905G>A (p.Arg1302Gln)not specified [RCV004401684]uncertain significance143132156331321563Humanname
405796839CV3262858single nucleotide variantNM_015473.4(HEATR5A):c.3938G>C (p.Gly1313Ala)not specified [RCV004401685]uncertain significance143132153031321530Humanname
405796842CV3262859single nucleotide variantNM_015473.4(HEATR5A):c.4091G>A (p.Arg1364Gln)not specified [RCV004401686]uncertain significance143131589731315897Humanname
405796846CV3262860single nucleotide variantNM_015473.4(HEATR5A):c.4400T>C (p.Leu1467Ser)not specified [RCV004401687]uncertain significance143131300931313009Humanname
405796849CV3262861single nucleotide variantNM_015473.4(HEATR5A):c.4679A>G (p.His1560Arg)not specified [RCV004401688]uncertain significance143130894531308945Humanname
405796855CV3262863single nucleotide variantNM_015473.4(HEATR5A):c.4775T>C (p.Leu1592Pro)not specified [RCV004401690]uncertain significance143130793631307936Humanname
405796858CV3262864single nucleotide variantNM_015473.4(HEATR5A):c.4868G>T (p.Arg1623Ile)not specified [RCV004401691]uncertain significance143130683031306830Humanname
405796860CV3262865single nucleotide variantNM_015473.4(HEATR5A):c.5312C>T (p.Pro1771Leu)not specified [RCV004401692]uncertain significance143130244731302447Humanname
405796862CV3262866single nucleotide variantNM_015473.4(HEATR5A):c.5362G>A (p.Gly1788Arg)not specified [RCV004401693]uncertain significance143130239731302397Humanname
405796865CV3262867single nucleotide variantNM_015473.4(HEATR5A):c.5386C>T (p.Arg1796Trp)not specified [RCV004401694]uncertain significance143130237331302373Humanname
405796868CV3262868single nucleotide variantNM_015473.4(HEATR5A):c.5699C>G (p.Ser1900Cys)not specified [RCV004401695]uncertain significance143129402531294025Humanname
405796874CV3262870single nucleotide variantNM_015473.4(HEATR5A):c.5929C>T (p.His1977Tyr)not specified [RCV004401697]uncertain significance143129351731293517Humanname
405796877CV3262871single nucleotide variantNM_015473.4(HEATR5A):c.6017A>T (p.Lys2006Ile)not specified [RCV004401698]uncertain significance143129342931293429Humanname
407520827CV3440328single nucleotide variantNM_015473.4(HEATR5A):c.5572C>T (p.Arg1858Cys)not specified [RCV004630176]uncertain significance143129595631295956Humanname
407504845CV3440330single nucleotide variantNM_015473.4(HEATR5A):c.5387G>A (p.Arg1796Gln)not specified [RCV004624168]uncertain significance143130237231302372Humanname
407520835CV3440331single nucleotide variantNM_015473.4(HEATR5A):c.5573G>A (p.Arg1858His)not specified [RCV004630178]uncertain significance143129595531295955Humanname
407504848CV3440332single nucleotide variantNM_015473.4(HEATR5A):c.3242G>T (p.Ser1081Ile)not specified [RCV004624169]uncertain significance143133760131337601Humanname
407520849CV3440336single nucleotide variantNM_015473.4(HEATR5A):c.3013C>T (p.Arg1005Cys)not specified [RCV004630182]uncertain significance143134513231345132Humanname
407520855CV3440338single nucleotide variantNM_015473.4(HEATR5A):c.4553T>C (p.Val1518Ala)not specified [RCV004630184]uncertain significance143130907131309071Humanname
407504849CV3440340single nucleotide variantNM_015473.4(HEATR5A):c.5714T>G (p.Ile1905Ser)not specified [RCV004624170]uncertain significance143129401031294010Humanname
407520865CV3440342single nucleotide variantNM_015473.4(HEATR5A):c.5950C>G (p.Leu1984Val)not specified [RCV004630187]uncertain significance143129349631293496Humanname
407520868CV3440343single nucleotide variantNM_015473.4(HEATR5A):c.5019G>T (p.Lys1673Asn)not specified [RCV004630188]uncertain significance143130512531305125Humanname
407520874CV3440345single nucleotide variantNM_015473.4(HEATR5A):c.6043G>A (p.Gly2015Ser)not specified [RCV004630190]uncertain significance143129340331293403Humanname
407520881CV3440347single nucleotide variantNM_015473.4(HEATR5A):c.4103A>C (p.Gln1368Pro)not specified [RCV004630192]uncertain significance143131588531315885Humanname
407520894CV3440351single nucleotide variantNM_015473.4(HEATR5A):c.3242G>C (p.Ser1081Thr)not specified [RCV004630196]uncertain significance143133760131337601Humanname
597781887CV3679301single nucleotide variantNM_015473.4(HEATR5A):c.5873C>T (p.Ser1958Phe)not specified [RCV004931014]uncertain significance143129357331293573Humanname
597711561CV3679303single nucleotide variantNM_015473.4(HEATR5A):c.5872T>A (p.Ser1958Thr)not specified [RCV004917566]uncertain significance143129357431293574Humanname
597711569CV3679304single nucleotide variantNM_015473.4(HEATR5A):c.3766A>G (p.Met1256Val)not specified [RCV004917567]uncertain significance143132358631323586Humanname
597711580CV3679305single nucleotide variantNM_015473.4(HEATR5A):c.4622G>T (p.Gly1541Val)not specified [RCV004917568]uncertain significance143130900231309002Humanname
597711591CV3679306single nucleotide variantNM_015473.4(HEATR5A):c.4920C>G (p.Ile1640Met)not specified [RCV004917570]uncertain significance143130677831306778Humanname
597781900CV3679311single nucleotide variantNM_015473.4(HEATR5A):c.3484A>G (p.Met1162Val)not specified [RCV004931017]uncertain significance143132622631326226Humanname
597711620CV3679314single nucleotide variantNM_015473.4(HEATR5A):c.5444T>G (p.Ile1815Ser)not specified [RCV004917573]uncertain significance143130231531302315Humanname
597711627CV3679315single nucleotide variantNM_015473.4(HEATR5A):c.3286C>G (p.Gln1096Glu)not specified [RCV004917574]uncertain significance143133755731337557Humanname
597781908CV3679317single nucleotide variantNM_015473.4(HEATR5A):c.3988C>T (p.Pro1330Ser)not specified [RCV004931019]uncertain significance143131827431318274Humanname
597711646CV3679318single nucleotide variantNM_015473.4(HEATR5A):c.4212G>T (p.Trp1404Cys)not specified [RCV004917576]uncertain significance143131577631315776Humanname
597781913CV3679320single nucleotide variantNM_015473.4(HEATR5A):c.3866G>A (p.Arg1289His)not specified [RCV004931020]uncertain significance143132160231321602Humanname
597711655CV3679321single nucleotide variantNM_015473.4(HEATR5A):c.3121G>A (p.Asp1041Asn)not specified [RCV004917577]uncertain significance143134400331344003Humanname
597711677CV3679327single nucleotide variantNM_015473.4(HEATR5A):c.4949A>C (p.Lys1650Thr)not specified [RCV004917579]uncertain significance143130674931306749Humanname
597711698CV3679329single nucleotide variantNM_015473.4(HEATR5A):c.3047C>T (p.Pro1016Leu)not specified [RCV004917581]uncertain significance143134509831345098Humanname
597711709CV3679330single nucleotide variantNM_015473.4(HEATR5A):c.4697G>C (p.Ser1566Thr)not specified [RCV004917582]uncertain significance143130801431308014Humanname
597781933CV3679333single nucleotide variantNM_015473.4(HEATR5A):c.3914C>G (p.Thr1305Ser)not specified [RCV004931025]uncertain significance143132155431321554Humanname
597711742CV3679334single nucleotide variantNM_015473.4(HEATR5A):c.5251A>T (p.Ile1751Phe)not specified [RCV004917585]uncertain significance143130250831302508Humanname
598266779CV3967853single nucleotide variantNM_015473.4(HEATR5A):c.3170A>G (p.Gln1057Arg)not specified [RCV005349355]uncertain significance143134395431343954Humanname
598266783CV3967854single nucleotide variantNM_015473.4(HEATR5A):c.4291G>A (p.Gly1431Ser)not specified [RCV005349356]likely benign143131311831313118Humanname
598266804CV3967860single nucleotide variantNM_015473.4(HEATR5A):c.5602G>A (p.Glu1868Lys)not specified [RCV005349361]uncertain significance143129592631295926Humanname
598247055CV3967863single nucleotide variantNM_015473.4(HEATR5A):c.3631C>T (p.Arg1211Cys)not specified [RCV005345243]uncertain significance143132372131323721Humanname
598266812CV3967865single nucleotide variantNM_015473.4(HEATR5A):c.4654G>A (p.Glu1552Lys)not specified [RCV005349363]uncertain significance143130897031308970Humanname
598266821CV3967869single nucleotide variantNM_015473.4(HEATR5A):c.5258C>G (p.Pro1753Arg)not specified [RCV005349365]uncertain significance143130250131302501Humanname
598266825CV3967870single nucleotide variantNM_015473.4(HEATR5A):c.4669G>A (p.Asp1557Asn)not specified [RCV005349366]uncertain significance143130895531308955Humanname
598266830CV3967871single nucleotide variantNM_015473.4(HEATR5A):c.4543A>G (p.Thr1515Ala)not specified [RCV005349367]uncertain significance143130908131309081Humanname
598266843CV3967874single nucleotide variantNM_015473.4(HEATR5A):c.4987A>G (p.Lys1663Glu)not specified [RCV005349370]uncertain significance143130515731305157Humanname
598247077CV3967875single nucleotide variantNM_015473.4(HEATR5A):c.3332T>G (p.Met1111Arg)not specified [RCV005345247]uncertain significance143133751131337511Humanname
598266847CV3967876single nucleotide variantNM_015473.4(HEATR5A):c.4325T>A (p.Leu1442Gln)not specified [RCV005349371]uncertain significance143131308431313084Humanname
598266852CV3967878single nucleotide variantNM_015473.4(HEATR5A):c.4696A>G (p.Ser1566Gly)not specified [RCV005349372]uncertain significance143130801531308015Humanname
8635206CV90428single nucleotide variantNM_015473.4(HEATR5A):c.4955G>A (p.Arg1652Gln)not specified [RCV004917569]uncertain significance|not provided143130674331306743Humanname