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275 records found for search term Afap1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
329362171CV2466082single nucleotide variantNM_001134647.2(AFAP1):c.26G>C (p.Arg9Pro)not specified [RCV004277968]uncertain significance478720537872053Humanname
401881886CV2783992single nucleotide variantNM_001134647.2(AFAP1):c.51T>G (p.His17Gln)not specified [RCV004362404]uncertain significance478720287872028Humanname
15151667CV721079single nucleotide variantNM_001134647.2(AFAP1):c.645C>T (p.His215=)not provided [RCV000879645]benign478386057838605Humanname
329362597CV2444779single nucleotide variantNM_001134647.2(AFAP1):c.253C>G (p.Pro85Ala)not specified [RCV004259023]uncertain significance478555477855547Humanname
401890279CV2767987single nucleotide variantNM_001134647.2(AFAP1):c.2058C>T (p.Asn686=)not provided [RCV004711955]|not specified [RCV004348232]likely benign477747437774743Humanname
401928051CV2822404single nucleotide variantNM_001134647.2(AFAP1):c.2436C>T (p.Asn812=)not provided [RCV003439242]likely benign477637747763774Humanname
401927907CV2822405single nucleotide variantNM_001134647.2(AFAP1):c.2349C>T (p.Ala783=)not provided [RCV003439243]likely benign477689137768913Humanname
405724607CV3249649single nucleotide variantNM_001134647.2(AFAP1):c.136G>A (p.Val46Met)not specified [RCV004378469]uncertain significance478687117868711Humanname
405724864CV3249679single nucleotide variantNM_001134647.2(AFAP1):c.173G>C (p.Ser58Thr)not specified [RCV004378499]uncertain significance478686747868674Humanname
405725713CV3249751single nucleotide variantNM_001134647.2(AFAP1):c.268C>T (p.Pro90Ser)not specified [RCV004378571]uncertain significance478555327855532Humanname
405725738CV3249754single nucleotide variantNM_001134647.2(AFAP1):c.283G>C (p.Glu95Gln)not specified [RCV004378574]uncertain significance478555177855517Humanname
405725782CV3249759single nucleotide variantNM_001134647.2(AFAP1):c.296C>T (p.Pro99Leu)not specified [RCV004378579]uncertain significance478555047855504Humanname
597712786CV3656095single nucleotide variantNM_001134647.2(AFAP1):c.242C>T (p.Pro81Leu)not specified [RCV004917971]uncertain significance478555587855558Humanname
597713008CV3663189single nucleotide variantNM_001134647.2(AFAP1):c.233A>G (p.Asp78Gly)not specified [RCV004917991]uncertain significance478555677855567Humanname
598161376CV3952927single nucleotide variantNM_001134647.2(AFAP1):c.172A>G (p.Ser58Gly)not specified [RCV005328962]uncertain significance478686757868675Humanname
15171648CV734722single nucleotide variantNM_001134647.2(AFAP1):c.2115G>A (p.Glu705=)not provided [RCV000905509]benign477729587772958Humanname
155968557CV2244265single nucleotide variantNM_001134647.2(AFAP1):c.499G>C (p.Gly167Arg)not specified [RCV004100261]uncertain significance478431867843186Humanname
155910671CV2303645single nucleotide variantNM_001134647.2(AFAP1):c.716A>G (p.Gln239Arg)not specified [RCV004161726]uncertain significance478385347838534Humanname
156229779CV2353017single nucleotide variantNM_001134647.2(AFAP1):c.863T>C (p.Val288Ala)not provided [RCV004695637]|not specified [RCV004201046]uncertain significance478160597816059Humanname
156115156CV2392256single nucleotide variantNM_001134647.2(AFAP1):c.691G>A (p.Val231Ile)not specified [RCV004243865]uncertain significance478385597838559Humanname
156152762CV2394893single nucleotide variantNM_001134647.2(AFAP1):c.317C>T (p.Pro106Leu)not specified [RCV004234549]uncertain significance478554837855483Humanname
329370786CV2435686single nucleotide variantNM_001134647.2(AFAP1):c.989T>G (p.Leu330Arg)not specified [RCV004254921]uncertain significance478096797809679Humanname
401772433CV2687526single nucleotide variantNM_001134647.2(AFAP1):c.865G>C (p.Val289Leu)not specified [RCV004300756]uncertain significance478160577816057Humanname
401875595CV2766106single nucleotide variantNM_001134647.2(AFAP1):c.523G>A (p.Val175Ile)not specified [RCV004340561]uncertain significance478431627843162Humanname
401870393CV2792361single nucleotide variantNM_001134647.2(AFAP1):c.384G>C (p.Glu128Asp)not specified [RCV004361529]uncertain significance478433017843301Humanname
405725808CV3249762single nucleotide variantNM_001134647.2(AFAP1):c.342T>G (p.Asp114Glu)not specified [RCV004378582]uncertain significance478433437843343Humanname
405725868CV3249768single nucleotide variantNM_001134647.2(AFAP1):c.398A>G (p.Lys133Arg)not specified [RCV004378588]uncertain significance478432877843287Humanname
405725923CV3249775single nucleotide variantNM_001134647.2(AFAP1):c.468C>G (p.Ile156Met)not specified [RCV004378595]uncertain significance478432177843217Humanname
405725973CV3249780single nucleotide variantNM_001134647.2(AFAP1):c.484C>T (p.Arg162Trp)not specified [RCV004378600]uncertain significance478432017843201Humanname
405726153CV3249800single nucleotide variantNM_001134647.2(AFAP1):c.965A>C (p.Lys322Thr)not specified [RCV004378620]uncertain significance478097037809703Humanname
405726195CV3249804single nucleotide variantNM_001134647.2(AFAP1):c.991G>A (p.Gly331Arg)not specified [RCV004378624]uncertain significance478096777809677Humanname
597641553CV3656102single nucleotide variantNM_001134647.2(AFAP1):c.632A>G (p.Lys211Arg)not specified [RCV004909196]uncertain significance478386187838618Humanname
597641836CV3656141single nucleotide variantNM_001134647.2(AFAP1):c.926A>T (p.Lys309Ile)not specified [RCV004909223]uncertain significance478097427809742Humanname
598161278CV3952910single nucleotide variantNM_001134647.2(AFAP1):c.752G>A (p.Cys251Tyr)not specified [RCV005328945]uncertain significance478191467819146Humanname
598161428CV3952937single nucleotide variantNM_001134647.2(AFAP1):c.599G>T (p.Gly200Val)not specified [RCV005328972]uncertain significance478386517838651Humanname
598161669CV3952985single nucleotide variantNM_001134647.2(AFAP1):c.335A>G (p.Asn112Ser)not specified [RCV005329020]uncertain significance478433507843350Humanname
598161859CV3953024single nucleotide variantNM_001134647.2(AFAP1):c.307G>A (p.Gly103Arg)not specified [RCV005329059]uncertain significance478554937855493Humanname
156279378CV2206263single nucleotide variantNM_001134647.2(AFAP1):c.1423A>G (p.Arg475Gly)not specified [RCV004078613]uncertain significance477863017786301Humanname
155967627CV2216881single nucleotide variantNM_001134647.2(AFAP1):c.1214A>G (p.His405Arg)not specified [RCV004083297]uncertain significance478004947800494Humanname
156342329CV2222207single nucleotide variantNM_001134647.2(AFAP1):c.2093A>G (p.Lys698Arg)not specified [RCV004105238]uncertain significance477729807772980Humanname
156277500CV2230750single nucleotide variantNM_001134647.2(AFAP1):c.2345C>T (p.Ala782Val)not specified [RCV004091975]uncertain significance477689177768917Humanname
155988978CV2234267single nucleotide variantNM_001134647.2(AFAP1):c.2218G>T (p.Ala740Ser)not specified [RCV004106340]uncertain significance477728557772855Humanname
156207423CV2250039single nucleotide variantNM_001134647.2(AFAP1):c.1730C>A (p.Ser577Tyr)not specified [RCV004116868]uncertain significance477814287781428Humanname
156246284CV2276732single nucleotide variantNM_001134647.2(AFAP1):c.1871C>T (p.Ala624Val)not specified [RCV004146518]uncertain significance477787887778788Humanname
155945405CV2292087single nucleotide variantNM_001134647.2(AFAP1):c.2047A>G (p.Ile683Val)not specified [RCV004160356]uncertain significance477747547774754Humanname
156353819CV2324149single nucleotide variantNM_001134647.2(AFAP1):c.1094G>A (p.Arg365His)not specified [RCV004176899]uncertain significance478006147800614Humanname
156079549CV2351195single nucleotide variantNM_001134647.2(AFAP1):c.2389T>A (p.Cys797Ser)not specified [RCV004214043]uncertain significance477688737768873Humanname
155988755CV2371858single nucleotide variantNM_001134647.2(AFAP1):c.1643G>T (p.Arg548Leu)not specified [RCV004221551]uncertain significance477815157781515Humanname
156041890CV2381407single nucleotide variantNM_001134647.2(AFAP1):c.2119C>T (p.Arg707Trp)not specified [RCV004229896]uncertain significance477729547772954Humanname
329386683CV2428381single nucleotide variantNM_001134647.2(AFAP1):c.2350G>A (p.Val784Ile)not specified [RCV004253187]uncertain significance477689127768912Humanname
329399230CV2436435single nucleotide variantNM_001134647.2(AFAP1):c.1514C>T (p.Pro505Leu)not specified [RCV004251818]uncertain significance477862107786210Humanname
329397193CV2460002single nucleotide variantNM_001134647.2(AFAP1):c.1633A>G (p.Ile545Val)not specified [RCV004279477]uncertain significance477815257781525Humanname
401767757CV2677806single nucleotide variantNM_001134647.2(AFAP1):c.1172C>T (p.Pro391Leu)not specified [RCV004294304]uncertain significance478005367800536Humanname
401758193CV2678266single nucleotide variantNM_001134647.2(AFAP1):c.1738A>G (p.Asn580Asp)not specified [RCV004290265]uncertain significance477814207781420Humanname
401740106CV2683260single nucleotide variantNM_001134647.2(AFAP1):c.1487G>A (p.Gly496Glu)not specified [RCV004288045]uncertain significance477862377786237Humanname
401769673CV2689883single nucleotide variantNM_001134647.2(AFAP1):c.2102A>G (p.Gln701Arg)not specified [RCV004297780]likely benign477729717772971Humanname
401757832CV2707987single nucleotide variantNM_001134647.2(AFAP1):c.2200G>C (p.Gly734Arg)not specified [RCV004309239]uncertain significance477728737772873Humanname
401860295CV2762384single nucleotide variantNM_001134647.2(AFAP1):c.1178G>T (p.Arg393Leu)not specified [RCV004335493]uncertain significance478005307800530Humanname
401859145CV2771417single nucleotide variantNM_001134647.2(AFAP1):c.2372C>T (p.Ala791Val)not specified [RCV004348470]uncertain significance477688907768890Humanname
401872511CV2793032single nucleotide variantNM_001134647.2(AFAP1):c.2432A>G (p.Lys811Arg)not specified [RCV004360365]uncertain significance477637787763778Humanname
401927909CV2822406single nucleotide variantNM_001134647.2(AFAP1):c.1546G>A (p.Gly516Ser)not provided [RCV003439244]|not specified [RCV004917847]likely benign|uncertain significance477816127781612Humanname
405724567CV3249645single nucleotide variantNM_001134647.2(AFAP1):c.1312G>T (p.Ala438Ser)not specified [RCV004378465]uncertain significance477937817793781Humanname
405724682CV3249658single nucleotide variantNM_001134647.2(AFAP1):c.1502A>G (p.Tyr501Cys)not specified [RCV004378478]uncertain significance477862227786222Humanname
405724729CV3249664single nucleotide variantNM_001134647.2(AFAP1):c.1610A>C (p.Tyr537Ser)not specified [RCV004378484]uncertain significance477815487781548Humanname
405725107CV3249683single nucleotide variantNM_001134647.2(AFAP1):c.1765C>A (p.Leu589Ile)not specified [RCV004378503]uncertain significance477813937781393Humanname
405725164CV3249689single nucleotide variantNM_001134647.2(AFAP1):c.1838C>A (p.Thr613Asn)not specified [RCV004378509]uncertain significance477788217778821Humanname
405725225CV3249695single nucleotide variantNM_001134647.2(AFAP1):c.2039G>A (p.Arg680Gln)not specified [RCV004378515]uncertain significance477747627774762Humanname
405725291CV3249702single nucleotide variantNM_001134647.2(AFAP1):c.2091G>C (p.Glu697Asp)not specified [RCV004378522]likely benign477729827772982Humanname
405725384CV3249713single nucleotide variantNM_001134647.2(AFAP1):c.2132C>T (p.Ala711Val)not specified [RCV004378533]uncertain significance477729417772941Humanname
405725463CV3249722single nucleotide variantNM_001134647.2(AFAP1):c.2232G>C (p.Lys744Asn)not specified [RCV004378542]uncertain significance477728417772841Humanname
405725585CV3249736single nucleotide variantNM_001134647.2(AFAP1):c.2374C>T (p.Pro792Ser)not specified [RCV004378556]uncertain significance477688887768888Humanname
405725628CV3249741single nucleotide variantNM_001134647.2(AFAP1):c.2396G>A (p.Gly799Glu)not specified [RCV004378561]uncertain significance477688667768866Humanname
407477294CV3431229single nucleotide variantNM_001134647.2(AFAP1):c.1562G>A (p.Cys521Tyr)not specified [RCV004617300]uncertain significance477815967781596Humanname
407477341CV3431240single nucleotide variantNM_001134647.2(AFAP1):c.1460C>T (p.Thr487Ile)not specified [RCV004617311]uncertain significance477862647786264Humanname
407477366CV3431246single nucleotide variantNM_001134647.2(AFAP1):c.2162C>T (p.Thr721Met)not specified [RCV004617317]uncertain significance477729117772911Humanname
407477389CV3431252single nucleotide variantNM_001134647.2(AFAP1):c.1081C>T (p.Arg361Cys)not specified [RCV004617323]uncertain significance478006277800627Humanname
407477445CV3431263single nucleotide variantNM_001134647.2(AFAP1):c.1433T>C (p.Ile478Thr)not specified [RCV004617334]uncertain significance477862917786291Humanname
407477506CV3431273single nucleotide variantNM_001134647.2(AFAP1):c.1763C>G (p.Ser588Cys)not specified [RCV004617344]uncertain significance477813957781395Humanname
407477560CV3431282single nucleotide variantNM_001134647.2(AFAP1):c.2177G>A (p.Ser726Asn)not specified [RCV004617353]uncertain significance477728967772896Humanname
407477601CV3431288single nucleotide variantNM_001134647.2(AFAP1):c.1391A>G (p.Gln464Arg)not specified [RCV004617359]uncertain significance477937027793702Humanname
407477632CV3431293single nucleotide variantNM_001134647.2(AFAP1):c.1169T>C (p.Ile390Thr)not specified [RCV004617364]uncertain significance478005397800539Humanname
597641348CV3656055single nucleotide variantNM_001134647.2(AFAP1):c.1721C>T (p.Ser574Phe)not specified [RCV004909159]uncertain significance477814377781437Humanname
597641407CV3656066single nucleotide variantNM_001134647.2(AFAP1):c.2189C>T (p.Ala730Val)not specified [RCV004909170]uncertain significance477728847772884Humanname
597641462CV3656077single nucleotide variantNM_001134647.2(AFAP1):c.1778C>T (p.Ser593Leu)not specified [RCV004909180]uncertain significance477813807781380Humanname
597641508CV3656088single nucleotide variantNM_001134647.2(AFAP1):c.1622C>T (p.Pro541Leu)not specified [RCV004909188]uncertain significance477815367781536Humanname
597641585CV3656111single nucleotide variantNM_001134647.2(AFAP1):c.2078C>T (p.Ala693Val)not specified [RCV004909202]likely benign477729957772995Humanname
597641625CV3656120single nucleotide variantNM_001134647.2(AFAP1):c.1538C>T (p.Pro513Leu)not specified [RCV004909210]uncertain significance477816207781620Humanname
597641794CV3656130single nucleotide variantNM_001134647.2(AFAP1):c.2218G>A (p.Ala740Thr)not specified [RCV004909215]uncertain significance477728557772855Humanname
597641895CV3656151single nucleotide variantNM_001134647.2(AFAP1):c.1996C>T (p.Arg666Trp)not specified [RCV004909232]uncertain significance477748057774805Humanname
597712976CV3663171single nucleotide variantNM_001134647.2(AFAP1):c.1739A>G (p.Asn580Ser)not specified [RCV004917988]uncertain significance477814197781419Humanname
597712988CV3663182single nucleotide variantNM_001134647.2(AFAP1):c.2167G>A (p.Val723Ile)not specified [RCV004917989]uncertain significance477729067772906Humanname
597713018CV3663196single nucleotide variantNM_001134647.2(AFAP1):c.2386C>T (p.Pro796Ser)not specified [RCV004917992]uncertain significance477688767768876Humanname
598161342CV3952920single nucleotide variantNM_001134647.2(AFAP1):c.2384C>T (p.Ser795Phe)not specified [RCV005328955]uncertain significance477688787768878Humanname
598161466CV3952945single nucleotide variantNM_001134647.2(AFAP1):c.2227C>T (p.Pro743Ser)not specified [RCV005328980]uncertain significance477728467772846Humanname
598161505CV3952953single nucleotide variantNM_001134647.2(AFAP1):c.1760C>T (p.Ala587Val)not specified [RCV005328988]uncertain significance477813987781398Humanname
598161559CV3952963single nucleotide variantNM_001134647.2(AFAP1):c.1534G>A (p.Glu512Lys)not specified [RCV005328998]uncertain significance477816247781624Humanname
598161619CV3952975single nucleotide variantNM_001134647.2(AFAP1):c.1549T>C (p.Phe517Leu)not specified [RCV005329010]uncertain significance477816097781609Humanname
598161701CV3952991single nucleotide variantNM_001134647.2(AFAP1):c.1387A>T (p.Ile463Phe)not specified [RCV005329026]uncertain significance477937067793706Humanname
598161759CV3953002single nucleotide variantNM_001134647.2(AFAP1):c.2070G>C (p.Lys690Asn)not specified [RCV005329037]uncertain significance477730037773003Humanname
598161794CV3953010single nucleotide variantNM_001134647.2(AFAP1):c.1186G>A (p.Glu396Lys)not specified [RCV005329045]uncertain significance478005227800522Humanname
598161822CV3953016single nucleotide variantNM_001134647.2(AFAP1):c.2039G>T (p.Arg680Leu)not specified [RCV005329051]uncertain significance477747627774762Humanname
598162440CV3953137single nucleotide variantNM_152406.4(AFAP1L1):c.4G>T (p.Asp2Tyr)not specified [RCV005329172]uncertain significance5149271972149271972Humanname
405727427CV3259846single nucleotide variantNM_152406.4(AFAP1L1):c.68A>G (p.His23Arg)not specified [RCV004378726]uncertain significance5149299560149299560Humanname
405727005CV3259858single nucleotide variantNM_152406.4(AFAP1L1):c.86C>T (p.Thr29Ile)not specified [RCV004378739]uncertain significance5149299578149299578Humanname
155929083CV2389055single nucleotide variantNM_152406.4(AFAP1L1):c.104T>C (p.Met35Thr)not specified [RCV004235393]uncertain significance5149299596149299596Humanname
401730628CV2711423single nucleotide variantNM_152406.4(AFAP1L1):c.248T>A (p.Leu83His)not specified [RCV004313173]uncertain significance5149301151149301151Humanname
401718102CV2725313single nucleotide variantNM_152406.4(AFAP1L1):c.286G>A (p.Gly96Arg)not specified [RCV004319975]uncertain significance5149301189149301189Humanname
407477983CV3431356single nucleotide variantNM_152406.4(AFAP1L1):c.175A>C (p.Thr59Pro)not specified [RCV004617426]uncertain significance5149300300149300300Humanname
597642026CV3663210single nucleotide variantNM_152406.4(AFAP1L1):c.244G>A (p.Asp82Asn)not specified [RCV004909254]uncertain significance5149301147149301147Humanname
598162180CV3953084single nucleotide variantNM_152406.4(AFAP1L1):c.185T>G (p.Leu62Arg)not specified [RCV005329119]uncertain significance5149300310149300310Humanname
155974571CV2211186single nucleotide variantNM_152406.4(AFAP1L1):c.458C>T (p.Ser153Leu)not specified [RCV004088347]uncertain significance5149306327149306327Humanname
156060754CV2236032single nucleotide variantNM_152406.4(AFAP1L1):c.620A>C (p.Gln207Pro)not specified [RCV004114200]uncertain significance5149307486149307486Humanname
156246049CV2310499single nucleotide variantNM_152406.4(AFAP1L1):c.913G>A (p.Glu305Lys)not specified [RCV004163523]uncertain significance5149310121149310121Humanname
156353198CV2324120single nucleotide variantNM_152406.4(AFAP1L1):c.418G>A (p.Glu140Lys)not specified [RCV004178406]uncertain significance5149302508149302508Humanname
155920805CV2350567single nucleotide variantNM_152406.4(AFAP1L1):c.406G>A (p.Gly136Ser)not specified [RCV004204920]uncertain significance5149302496149302496Humanname
401781306CV2681960single nucleotide variantNM_152406.4(AFAP1L1):c.347C>T (p.Pro116Leu)not specified [RCV004296944]uncertain significance5149302437149302437Humanname
401762735CV2710296single nucleotide variantNM_152406.4(AFAP1L1):c.994C>T (p.Leu332Phe)not specified [RCV004317479]uncertain significance5149312178149312178Humanname
405726916CV3259825single nucleotide variantNM_152406.4(AFAP1L1):c.317G>T (p.Arg106Leu)not specified [RCV004378705]uncertain significance5149301220149301220Humanname
405727543CV3259834single nucleotide variantNM_152406.4(AFAP1L1):c.424A>G (p.Ile142Val)not specified [RCV004378714]uncertain significance5149302514149302514Humanname
405727478CV3259841single nucleotide variantNM_152406.4(AFAP1L1):c.520G>A (p.Glu174Lys)not specified [RCV004378721]uncertain significance5149306389149306389Humanname
405726933CV3259851single nucleotide variantNM_152406.4(AFAP1L1):c.695G>A (p.Arg232His)not specified [RCV004378731]uncertain significance5149307561149307561Humanname
405726972CV3259854single nucleotide variantNM_152406.4(AFAP1L1):c.746T>C (p.Leu249Pro)not specified [RCV004378735]uncertain significance5149307612149307612Humanname
405727066CV3259866single nucleotide variantNM_152406.4(AFAP1L1):c.935G>A (p.Arg312Gln)not specified [RCV004378747]uncertain significance5149312119149312119Humanname
405727116CV3259872single nucleotide variantNM_152406.4(AFAP1L1):c.989C>T (p.Pro330Leu)not specified [RCV004378753]uncertain significance5149312173149312173Humanname
407477771CV3431314single nucleotide variantNM_152406.4(AFAP1L1):c.511G>A (p.Val171Met)not specified [RCV004617385]likely benign5149306380149306380Humanname
407477837CV3431326single nucleotide variantNM_152406.4(AFAP1L1):c.367C>T (p.Pro123Ser)not specified [RCV004617397]uncertain significance5149302457149302457Humanname
407477934CV3431346single nucleotide variantNM_152406.4(AFAP1L1):c.362C>T (p.Pro121Leu)not specified [RCV004617416]uncertain significance5149302452149302452Humanname
596941396CV3542497single nucleotide variantNM_152406.4(AFAP1L1):c.685C>T (p.Arg229Trp)Neuromuscular disease [RCV004797743]uncertain significance5149307551149307551Human1name
597642020CV3663204single nucleotide variantNM_152406.4(AFAP1L1):c.770G>A (p.Arg257Gln)not specified [RCV004909253]uncertain significance5149309978149309978Humanname
597713029CV3663219single nucleotide variantNM_152406.4(AFAP1L1):c.817G>A (p.Val273Met)not specified [RCV004917993]uncertain significance5149310025149310025Humanname
597713041CV3663237single nucleotide variantNM_152406.4(AFAP1L1):c.769C>T (p.Arg257Trp)not specified [RCV004917994]uncertain significance5149309977149309977Humanname
597642039CV3663248single nucleotide variantNM_152406.4(AFAP1L1):c.832C>T (p.Arg278Trp)not specified [RCV004909256]uncertain significance5149310040149310040Humanname
597713052CV3663259single nucleotide variantNM_152406.4(AFAP1L1):c.607C>A (p.Gln203Lys)not specified [RCV004917995]uncertain significance5149307473149307473Humanname
597642062CV3663298single nucleotide variantNM_152406.4(AFAP1L1):c.389C>G (p.Ala130Gly)not specified [RCV004909260]uncertain significance5149302479149302479Humanname
597642075CV3663329single nucleotide variantNM_152406.4(AFAP1L1):c.613C>G (p.Arg205Gly)not specified [RCV004909262]uncertain significance5149307479149307479Humanname
597642081CV3663340single nucleotide variantNM_152406.4(AFAP1L1):c.367C>A (p.Pro123Thr)not specified [RCV004909263]uncertain significance5149302457149302457Humanname
597642128CV3663362single nucleotide variantNM_152406.4(AFAP1L1):c.368C>G (p.Pro123Arg)not specified [RCV004909271]uncertain significance5149302458149302458Humanname
597642527CV3663378single nucleotide variantNM_152406.4(AFAP1L1):c.461T>C (p.Ile154Thr)not specified [RCV004909282]uncertain significance5149306330149306330Humanname
597642361CV3663485single nucleotide variantNM_001001936.3(AFAP1L2):c.20T>C (p.Leu7Pro)not specified [RCV004909335]uncertain significance10114340728114340728Humanname
598162073CV3953066single nucleotide variantNM_152406.4(AFAP1L1):c.554T>C (p.Met185Thr)not specified [RCV005329101]uncertain significance5149307420149307420Humanname
598162204CV3953088single nucleotide variantNM_152406.4(AFAP1L1):c.686G>A (p.Arg229Gln)not specified [RCV005329123]uncertain significance5149307552149307552Humanname
156228851CV2213107single nucleotide variantNM_152406.4(AFAP1L1):c.2001A>C (p.Glu667Asp)not specified [RCV004091658]uncertain significance5149332720149332720Humanname
156302884CV2258746single nucleotide variantNM_152406.4(AFAP1L1):c.2123G>A (p.Gly708Glu)not specified [RCV004117981]uncertain significance5149332842149332842Humanname
156273037CV2277647single nucleotide variantNM_152406.4(AFAP1L1):c.1785G>C (p.Gln595His)not specified [RCV004147109]uncertain significance5149322692149322692Humanname
156272298CV2283560single nucleotide variantNM_152406.4(AFAP1L1):c.1781C>T (p.Pro594Leu)not specified [RCV004140074]uncertain significance5149322688149322688Humanname
156161385CV2311736single nucleotide variantNM_152406.4(AFAP1L1):c.1909C>T (p.Arg637Trp)not specified [RCV004170603]uncertain significance5149329764149329764Humanname
156056281CV2326651single nucleotide variantNM_152406.4(AFAP1L1):c.1675G>A (p.Asp559Asn)not specified [RCV004185231]uncertain significance5149320440149320440Humanname
156050414CV2336592single nucleotide variantNM_152406.4(AFAP1L1):c.1771C>T (p.Arg591Cys)not specified [RCV004196840]uncertain significance5149322678149322678Humanname
155985093CV2344488single nucleotide variantNM_152406.4(AFAP1L1):c.1565A>G (p.Tyr522Cys)not specified [RCV004195231]uncertain significance5149319667149319667Humanname
155988838CV2355167single nucleotide variantNM_152406.4(AFAP1L1):c.1738C>T (p.Arg580Cys)not specified [RCV004198553]uncertain significance5149322645149322645Humanname
156207433CV2360420single nucleotide variantNM_152406.4(AFAP1L1):c.1874A>G (p.Glu625Gly)not specified [RCV004208745]uncertain significance5149329729149329729Humanname
156084523CV2381993single nucleotide variantNM_152406.4(AFAP1L1):c.2245G>A (p.Val749Ile)not specified [RCV004225921]uncertain significance5149335684149335684Humanname
156228343CV2392952single nucleotide variantNM_152406.4(AFAP1L1):c.1904C>T (p.Thr635Met)not specified [RCV004242807]uncertain significance5149329759149329759Humanname
329388631CV2447712single nucleotide variantNM_152406.4(AFAP1L1):c.2048G>A (p.Arg683Gln)not specified [RCV004258502]uncertain significance5149332767149332767Humanname
329395405CV2458334single nucleotide variantNM_152406.4(AFAP1L1):c.2077G>A (p.Val693Met)not specified [RCV004265976]uncertain significance5149332796149332796Humanname
401893255CV2755379single nucleotide variantNM_152406.4(AFAP1L1):c.1841G>A (p.Arg614Gln)not specified [RCV004337544]uncertain significance5149329696149329696Humanname
401889604CV2758320single nucleotide variantNM_152406.4(AFAP1L1):c.1424G>A (p.Arg475Gln)not specified [RCV004341672]uncertain significance5149317885149317885Humanname
401861863CV2766456single nucleotide variantNM_152406.4(AFAP1L1):c.1550C>T (p.Pro517Leu)not specified [RCV004347082]uncertain significance5149319652149319652Humanname
401868338CV2767207single nucleotide variantNM_152406.4(AFAP1L1):c.1187G>A (p.Arg396His)not specified [RCV004349386]uncertain significance5149316223149316223Humanname
405726228CV3249808single nucleotide variantNM_152406.4(AFAP1L1):c.1096C>T (p.Arg366Trp)not specified [RCV004378628]uncertain significance5149315896149315896Humanname
405726261CV3249812single nucleotide variantNM_152406.4(AFAP1L1):c.1201T>C (p.Ser401Pro)not specified [RCV004378632]uncertain significance5149316237149316237Humanname
405726380CV3259765single nucleotide variantNM_152406.4(AFAP1L1):c.1723G>A (p.Gly575Arg)not specified [RCV004378645]uncertain significance5149322630149322630Humanname
405726472CV3259775single nucleotide variantNM_152406.4(AFAP1L1):c.1744G>A (p.Ala582Thr)not specified [RCV004378655]uncertain significance5149322651149322651Humanname
405726723CV3259802single nucleotide variantNM_152406.4(AFAP1L1):c.2021C>T (p.Ala674Val)not specified [RCV004378682]uncertain significance5149332740149332740Humanname
405726824CV3259814single nucleotide variantNM_152406.4(AFAP1L1):c.2144C>T (p.Pro715Leu)not specified [RCV004378694]uncertain significance5149332863149332863Humanname
407477704CV3431303single nucleotide variantNM_152406.4(AFAP1L1):c.1702G>A (p.Glu568Lys)not specified [RCV004617374]uncertain significance5149322609149322609Humanname
407477886CV3431336single nucleotide variantNM_152406.4(AFAP1L1):c.1319T>C (p.Leu440Pro)not specified [RCV004617407]uncertain significance5149317780149317780Humanname
596941199CV3542443single nucleotide variantNM_152406.4(AFAP1L1):c.1513G>A (p.Gly505Arg)Neuromuscular disease [RCV004797689]uncertain significance5149319615149319615Human1name
597642032CV3663227single nucleotide variantNM_152406.4(AFAP1L1):c.2008G>T (p.Ala670Ser)not specified [RCV004909255]uncertain significance5149332727149332727Humanname
597642045CV3663270single nucleotide variantNM_152406.4(AFAP1L1):c.1754G>T (p.Cys585Phe)not specified [RCV004909257]uncertain significance5149322661149322661Humanname
597642050CV3663281single nucleotide variantNM_152406.4(AFAP1L1):c.1532T>C (p.Met511Thr)not specified [RCV004909258]uncertain significance5149319634149319634Humanname
597642056CV3663290single nucleotide variantNM_152406.4(AFAP1L1):c.1060G>A (p.Val354Met)not specified [RCV004909259]uncertain significance5149315860149315860Humanname
597642069CV3663309single nucleotide variantNM_152406.4(AFAP1L1):c.2045G>A (p.Arg682His)not specified [RCV004909261]uncertain significance5149332764149332764Humanname
597642087CV3663351single nucleotide variantNM_152406.4(AFAP1L1):c.1426C>T (p.His476Tyr)not specified [RCV004909264]uncertain significance5149317887149317887Humanname
597642559CV3663371single nucleotide variantNM_152406.4(AFAP1L1):c.1681C>G (p.Pro561Ala)not specified [RCV004909277]uncertain significance5149320446149320446Humanname
597642466CV3663389single nucleotide variantNM_152406.4(AFAP1L1):c.1306C>T (p.Arg436Cys)not specified [RCV004909292]uncertain significance5149317767149317767Humanname
597642430CV3663400single nucleotide variantNM_152406.4(AFAP1L1):c.1535G>A (p.Gly512Asp)not specified [RCV004909299]uncertain significance5149319637149319637Humanname
598161909CV3953034single nucleotide variantNM_152406.4(AFAP1L1):c.2005G>A (p.Val669Met)not specified [RCV005329069]uncertain significance5149332724149332724Humanname
598162009CV3953054single nucleotide variantNM_152406.4(AFAP1L1):c.2126T>G (p.Leu709Arg)not specified [RCV005329089]uncertain significance5149332845149332845Humanname
598162122CV3953074single nucleotide variantNM_152406.4(AFAP1L1):c.1798C>T (p.Arg600Cys)not specified [RCV005329109]uncertain significance5149322705149322705Humanname
598162240CV3953095single nucleotide variantNM_152406.4(AFAP1L1):c.1175G>A (p.Arg392His)not specified [RCV005329130]uncertain significance5149316211149316211Humanname
598162286CV3953105single nucleotide variantNM_152406.4(AFAP1L1):c.2233A>T (p.Ser745Cys)not specified [RCV005329140]uncertain significance5149335672149335672Humanname
598162345CV3953116single nucleotide variantNM_152406.4(AFAP1L1):c.1880A>G (p.Glu627Gly)not specified [RCV005329151]uncertain significance5149329735149329735Humanname
598162402CV3953127single nucleotide variantNM_152406.4(AFAP1L1):c.1093C>T (p.Arg365Cys)not specified [RCV005329162]uncertain significance5149315893149315893Humanname
156233993CV2197165single nucleotide variantNM_001001936.3(AFAP1L2):c.112G>A (p.Ala38Thr)not specified [RCV004071586]uncertain significance10114340636114340636Humanname
155948496CV2245938single nucleotide variantNM_001001936.3(AFAP1L2):c.277C>T (p.Pro93Ser)not specified [RCV004113563]uncertain significance10114331841114331841Humanname
156250624CV2359144single nucleotide variantNM_001001936.3(AFAP1L2):c.178G>A (p.Val60Met)not specified [RCV004214502]uncertain significance10114333263114333263Humanname
329382506CV2424409single nucleotide variantNM_001001936.3(AFAP1L2):c.124C>T (p.Arg42Trp)not specified [RCV004252305]uncertain significance10114340624114340624Humanname
401907793CV2809648single nucleotide variantNM_001001936.3(AFAP1L2):c.2286C>T (p.His762=)not provided [RCV003422909]likely benign10114297241114297241Humanname
401907794CV2809649single nucleotide variantNM_001001936.3(AFAP1L2):c.1905C>G (p.Thr635=)not provided [RCV003422910]likely benign10114300246114300246Humanname
401907796CV2809650single nucleotide variantNM_001001936.3(AFAP1L2):c.1056G>A (p.Arg352=)not provided [RCV003422911]likely benign10114307821114307821Humanname
405727395CV3259905single nucleotide variantNM_001001936.3(AFAP1L2):c.125G>A (p.Arg42Gln)not specified [RCV004378786]uncertain significance10114340623114340623Humanname
405727738CV3259920single nucleotide variantNM_001001936.3(AFAP1L2):c.156G>C (p.Glu52Asp)not specified [RCV004378801]uncertain significance10114333285114333285Humanname
405728092CV3259959single nucleotide variantNM_001001936.3(AFAP1L2):c.217A>G (p.Lys73Glu)not specified [RCV004378840]uncertain significance10114333224114333224Humanname
405743707CV3260010single nucleotide variantNM_001001936.3(AFAP1L2):c.292C>G (p.Pro98Ala)not specified [RCV004380965]uncertain significance10114331826114331826Humanname
597642272CV3663422single nucleotide variantNM_001001936.3(AFAP1L2):c.272C>T (p.Ser91Leu)not specified [RCV004909320]uncertain significance10114331846114331846Humanname
15186525CV701192single nucleotide variantNM_001001936.3(AFAP1L2):c.2190C>T (p.Arg730=)not provided [RCV000953309]benign|likely benign10114297337114297337Humanname
15183394CV723787single nucleotide variantNM_001001936.3(AFAP1L2):c.1590G>A (p.Glu530=)not provided [RCV000886216]benign10114300643114300643Humanname
156270857CV2195195single nucleotide variantNM_001001936.3(AFAP1L2):c.886G>A (p.Asp296Asn)not specified [RCV004080137]uncertain significance10114308514114308514Humanname
155931210CV2220995single nucleotide variantNM_001001936.3(AFAP1L2):c.489G>T (p.Trp163Cys)not specified [RCV004092679]uncertain significance10114315683114315683Humanname
156241673CV2265802single nucleotide variantNM_001001936.3(AFAP1L2):c.890T>C (p.Ile297Thr)not specified [RCV004126418]uncertain significance10114308510114308510Humanname
156029334CV2278617single nucleotide variantNM_001001936.3(AFAP1L2):c.326G>A (p.Arg109Gln)not specified [RCV004134830]uncertain significance10114323251114323251Humanname
155940791CV2294141single nucleotide variantNM_001001936.3(AFAP1L2):c.731T>C (p.Met244Thr)not specified [RCV004149510]uncertain significance10114313932114313932Humanname
156207144CV2307874single nucleotide variantNM_001001936.3(AFAP1L2):c.382G>A (p.Glu128Lys)not specified [RCV004170334]uncertain significance10114323195114323195Humanname
156202584CV2334726single nucleotide variantNM_001001936.3(AFAP1L2):c.526G>A (p.Ala176Thr)not specified [RCV004188705]uncertain significance10114315646114315646Humanname
155908405CV2387313single nucleotide variantNM_001001936.3(AFAP1L2):c.454G>A (p.Asp152Asn)not specified [RCV004238401]uncertain significance10114315718114315718Humanname
156256228CV2397745single nucleotide variantNM_001001936.3(AFAP1L2):c.529C>T (p.Arg177Cys)not specified [RCV004239223]uncertain significance10114315643114315643Humanname
329375467CV2468627single nucleotide variantNM_001001936.3(AFAP1L2):c.958A>G (p.Thr320Ala)not specified [RCV004278182]uncertain significance10114308442114308442Humanname
329353161CV2471510single nucleotide variantNM_001001936.3(AFAP1L2):c.392A>G (p.Asp131Gly)not specified [RCV004280502]uncertain significance10114323185114323185Humanname
401760751CV2715921single nucleotide variantNM_001001936.3(AFAP1L2):c.830C>T (p.Ala277Val)not specified [RCV004329027]uncertain significance10114310406114310406Humanname
401871063CV2766759single nucleotide variantNM_001001936.3(AFAP1L2):c.475G>A (p.Ala159Thr)not specified [RCV004349149]uncertain significance10114315697114315697Humanname
401862430CV2775297single nucleotide variantNM_001001936.3(AFAP1L2):c.530G>A (p.Arg177His)not specified [RCV004348414]uncertain significance10114315642114315642Humanname
405743831CV3260028single nucleotide variantNM_001001936.3(AFAP1L2):c.457G>A (p.Gly153Ser)not specified [RCV004380983]likely benign10114315715114315715Humanname
405744143CV3260051single nucleotide variantNM_001001936.3(AFAP1L2):c.538G>A (p.Ala180Thr)not specified [RCV004381006]uncertain significance10114315634114315634Humanname
405744240CV3260065single nucleotide variantNM_001001936.3(AFAP1L2):c.866G>A (p.Arg289His)not specified [RCV004381020]uncertain significance10114310370114310370Humanname
407478081CV3431378single nucleotide variantNM_001001936.3(AFAP1L2):c.346A>G (p.Lys116Glu)not specified [RCV004617448]uncertain significance10114323231114323231Humanname
597642344CV3663452single nucleotide variantNM_001001936.3(AFAP1L2):c.514C>G (p.Leu172Val)not specified [RCV004909332]uncertain significance10114315658114315658Humanname
597642356CV3663469single nucleotide variantNM_001001936.3(AFAP1L2):c.694G>A (p.Val232Met)not specified [RCV004909334]uncertain significance10114313969114313969Humanname
598171558CV3953195single nucleotide variantNM_001001936.3(AFAP1L2):c.318T>G (p.Ile106Met)not specified [RCV005331204]uncertain significance10114323259114323259Humanname
598171596CV3953202single nucleotide variantNM_001001936.3(AFAP1L2):c.535T>C (p.Cys179Arg)not specified [RCV005331211]uncertain significance10114315637114315637Humanname
8633500CV88715single nucleotide variantNM_001001936.3(AFAP1L2):c.490C>T (p.Pro164Ser)not specified [RCV004092680]uncertain significance|not provided10114315682114315682Humanname
155963848CV2194156single nucleotide variantNM_001001936.3(AFAP1L2):c.1297G>A (p.Glu433Lys)not specified [RCV004077246]uncertain significance10114302472114302472Humanname
155960883CV2204383single nucleotide variantNM_001001936.3(AFAP1L2):c.2176G>A (p.Glu726Lys)not specified [RCV004079200]uncertain significance10114297351114297351Humanname
156329243CV2216363single nucleotide variantNM_001001936.3(AFAP1L2):c.2338G>T (p.Asp780Tyr)not specified [RCV004097231]uncertain significance10114297070114297070Humanname
155967991CV2216949single nucleotide variantNM_001001936.3(AFAP1L2):c.1387G>A (p.Asp463Asn)not specified [RCV004085320]uncertain significance10114302382114302382Humanname
156289498CV2229918single nucleotide variantNM_001001936.3(AFAP1L2):c.2447G>A (p.Gly816Glu)not specified [RCV004105464]uncertain significance10114296052114296052Humanname
156138555CV2236706single nucleotide variantNM_001001936.3(AFAP1L2):c.1487A>T (p.Gln496Leu)not specified [RCV004110661]uncertain significance10114301409114301409Humanname
155962781CV2285695single nucleotide variantNM_001001936.3(AFAP1L2):c.2252C>T (p.Pro751Leu)not specified [RCV004141543]uncertain significance10114297275114297275Humanname
156092001CV2300103single nucleotide variantNM_001001936.3(AFAP1L2):c.2387C>T (p.Ser796Leu)not specified [RCV004151301]uncertain significance10114297021114297021Humanname
155967640CV2329944single nucleotide variantNM_001001936.3(AFAP1L2):c.1655G>A (p.Ser552Asn)not specified [RCV004183398]uncertain significance10114300578114300578Humanname
156082229CV2333957single nucleotide variantNM_001001936.3(AFAP1L2):c.1627G>A (p.Val543Ile)not specified [RCV004183489]uncertain significance10114300606114300606Humanname
156135036CV2347176single nucleotide variantNM_001001936.3(AFAP1L2):c.2129C>T (p.Ala710Val)not specified [RCV004204650]uncertain significance10114297398114297398Humanname
156077396CV2351032single nucleotide variantNM_001001936.3(AFAP1L2):c.1943G>A (p.Arg648His)not provided [RCV004695682]|not specified [RCV004211856]uncertain significance10114300208114300208Humanname
156082202CV2368885single nucleotide variantNM_001001936.3(AFAP1L2):c.1063G>A (p.Glu355Lys)not specified [RCV004207842]uncertain significance10114307814114307814Humanname
155991599CV2384301single nucleotide variantNM_001001936.3(AFAP1L2):c.1493G>A (p.Arg498His)not specified [RCV004227685]uncertain significance10114301403114301403Humanname
156053018CV2385427single nucleotide variantNM_001001936.3(AFAP1L2):c.1492C>T (p.Arg498Cys)not specified [RCV004233081]uncertain significance10114301404114301404Humanname
156152344CV2394849single nucleotide variantNM_001001936.3(AFAP1L2):c.2161G>A (p.Glu721Lys)not specified [RCV004234509]uncertain significance10114297366114297366Humanname
329381844CV2424239single nucleotide variantNM_001001936.3(AFAP1L2):c.1682C>G (p.Thr561Arg)not specified [RCV004250360]uncertain significance10114300551114300551Humanname
329360572CV2439509single nucleotide variantNM_001001936.3(AFAP1L2):c.1795G>A (p.Glu599Lys)not specified [RCV004262448]uncertain significance10114300356114300356Humanname
329387839CV2440155single nucleotide variantNM_001001936.3(AFAP1L2):c.2284C>A (p.His762Asn)not specified [RCV004260611]uncertain significance10114297243114297243Humanname
401766462CV2679700single nucleotide variantNM_001001936.3(AFAP1L2):c.2237A>G (p.Lys746Arg)not specified [RCV004282170]uncertain significance10114297290114297290Humanname
401744266CV2680928single nucleotide variantNM_001001936.3(AFAP1L2):c.1837G>A (p.Val613Ile)not specified [RCV004296000]uncertain significance10114300314114300314Humanname
401755398CV2682472single nucleotide variantNM_001001936.3(AFAP1L2):c.1678C>T (p.Pro560Ser)not specified [RCV004290497]uncertain significance10114300555114300555Humanname
401773365CV2698187single nucleotide variantNM_001001936.3(AFAP1L2):c.1481C>T (p.Pro494Leu)not specified [RCV004304756]uncertain significance10114301415114301415Humanname
401747947CV2698892single nucleotide variantNM_001001936.3(AFAP1L2):c.1005C>A (p.Asn335Lys)not specified [RCV004301649]uncertain significance10114307872114307872Humanname
401763039CV2707456single nucleotide variantNM_001001936.3(AFAP1L2):c.2238G>C (p.Lys746Asn)not specified [RCV004312837]uncertain significance10114297289114297289Humanname
401757907CV2731531single nucleotide variantNM_001001936.3(AFAP1L2):c.2372A>G (p.Lys791Arg)not specified [RCV004330880]uncertain significance10114297036114297036Humanname
401894719CV2785224single nucleotide variantNM_001001936.3(AFAP1L2):c.2269A>G (p.Thr757Ala)not specified [RCV004356998]uncertain significance10114297258114297258Humanname
401876981CV2793305single nucleotide variantNM_001001936.3(AFAP1L2):c.2138A>G (p.Glu713Gly)not specified [RCV004362125]uncertain significance10114297389114297389Humanname
401882189CV2793398single nucleotide variantNM_001001936.3(AFAP1L2):c.1156C>T (p.Arg386Trp)not specified [RCV004362497]uncertain significance10114304847114304847Humanname
405727192CV3259881single nucleotide variantNM_001001936.3(AFAP1L2):c.1010T>A (p.Met337Lys)not specified [RCV004378762]uncertain significance10114307867114307867Humanname
405727289CV3259893single nucleotide variantNM_001001936.3(AFAP1L2):c.1195G>A (p.Val399Met)not specified [RCV004378774]uncertain significance10114304808114304808Humanname
405727334CV3259898single nucleotide variantNM_001001936.3(AFAP1L2):c.1206G>T (p.Glu402Asp)not specified [RCV004378779]uncertain significance10114304797114304797Humanname
405727669CV3259912single nucleotide variantNM_001001936.3(AFAP1L2):c.1446G>T (p.Lys482Asn)not specified [RCV004378793]uncertain significance10114301450114301450Humanname
405727747CV3259921single nucleotide variantNM_001001936.3(AFAP1L2):c.1586A>C (p.Asn529Thr)not specified [RCV004378802]uncertain significance10114300647114300647Humanname
405728055CV3259954single nucleotide variantNM_001001936.3(AFAP1L2):c.2170C>T (p.Arg724Trp)not specified [RCV004378835]uncertain significance10114297357114297357Humanname
405743919CV3259964single nucleotide variantNM_001001936.3(AFAP1L2):c.2188C>T (p.Arg730Cys)not specified [RCV004380919]uncertain significance10114297339114297339Humanname
405743612CV3259996single nucleotide variantNM_001001936.3(AFAP1L2):c.2392G>A (p.Val798Met)not specified [RCV004380951]likely benign10114297016114297016Humanname
407478031CV3431367single nucleotide variantNM_001001936.3(AFAP1L2):c.1129G>A (p.Asp377Asn)not specified [RCV004617437]uncertain significance10114304874114304874Humanname
407478127CV3441410single nucleotide variantNM_001001936.3(AFAP1L2):c.1123G>C (p.Val375Leu)not specified [RCV004617458]uncertain significance10114304880114304880Humanname
597642213CV3663411single nucleotide variantNM_001001936.3(AFAP1L2):c.1412C>A (p.Ala471Glu)not specified [RCV004909310]uncertain significance10114302357114302357Humanname
597642317CV3663431single nucleotide variantNM_001001936.3(AFAP1L2):c.1426C>A (p.Leu476Ile)not specified [RCV004909328]uncertain significance10114302343114302343Humanname
597642323CV3663433single nucleotide variantNM_001001936.3(AFAP1L2):c.1894G>A (p.Val632Met)not specified [RCV004909329]uncertain significance10114300257114300257Humanname
597713191CV3663440single nucleotide variantNM_001001936.3(AFAP1L2):c.1925C>T (p.Pro642Leu)not specified [RCV004918008]uncertain significance10114300226114300226Humanname
597642335CV3663445single nucleotide variantNM_001001936.3(AFAP1L2):c.2313A>C (p.Lys771Asn)not specified [RCV004909331]uncertain significance10114297095114297095Humanname
597642350CV3663461single nucleotide variantNM_001001936.3(AFAP1L2):c.1259A>G (p.Lys420Arg)not specified [RCV004909333]uncertain significance10114304744114304744Humanname
597713204CV3663477single nucleotide variantNM_001001936.3(AFAP1L2):c.1111C>T (p.Arg371Cys)not specified [RCV004918009]uncertain significance10114304892114304892Humanname
597713215CV3663492single nucleotide variantNM_001001936.3(AFAP1L2):c.1826G>C (p.Arg609Thr)not specified [RCV004918010]uncertain significance10114300325114300325Humanname
597642419CV3663503single nucleotide variantNM_001001936.3(AFAP1L2):c.1363T>C (p.Phe455Leu)not specified [RCV004909345]uncertain significance10114302406114302406Humanname
598162513CV3953149single nucleotide variantNM_001001936.3(AFAP1L2):c.1604G>A (p.Arg535Gln)not specified [RCV005329184]uncertain significance10114300629114300629Humanname
598171450CV3953176single nucleotide variantNM_001001936.3(AFAP1L2):c.1679C>T (p.Pro560Leu)not specified [RCV005331185]uncertain significance10114300554114300554Humanname
598171493CV3953182single nucleotide variantNM_001001936.3(AFAP1L2):c.1945G>A (p.Val649Met)not specified [RCV005331191]uncertain significance10114300206114300206Humanname
598171516CV3953187single nucleotide variantNM_001001936.3(AFAP1L2):c.1133A>G (p.Asn378Ser)not specified [RCV005331196]likely benign10114304870114304870Humanname
598171642CV3953211single nucleotide variantNM_001001936.3(AFAP1L2):c.1999C>T (p.Arg667Trp)not specified [RCV005331220]uncertain significance10114299374114299374Humanname
598171692CV3953222single nucleotide variantNM_001001936.3(AFAP1L2):c.1151A>G (p.Gln384Arg)not specified [RCV005331231]uncertain significance10114304852114304852Humanname