| Reports |
| substitution |
| cSNPs | 7 |
| Insertion | 40 |
| Deletion | 75 |
| SNPs |
+1kb
52727501(c.-17797C>T),
52727615(c.-17911C>T),
52727814(c.-18110T>C),
52727969(c.-18265G>A),
52728067(c.-18363G>A),
52728099(c.-18395T>A),
52728136(c.-18432T>C),
52728176(c.-18472A>T),
52728231(c.-18527G>A),
52728361(c.-18657G>A),
52728645(c.-18941A>C),
52728648(c.-18944T>C),
52728808(c.-19104A>G),
52728823(c.-19119T>G),
52728869(c.-19165C>T),
52728944(c.-19240A>G),
52729141(c.-19437T>C),
52729212(c.-19508T>C),
52729293(c.-19589T>C),
52729542(c.-19838A>G),
52729647(c.-19943G>C),
52729680(c.-19976T>C),
52729943(c.-20239A>G),
52730126(c.-20422A>G),
52730149(c.-20445T>A),
52730680(c.-20976G>A),
52730700(c.-20996C>T),
52730815(c.-21111C>T),
52730819(c.-21115C>G),
52730825(c.-21121C>T),
52730849(c.-21145T>C),
52730850(c.-21146T>C),
52730874(c.-21170G>T),
52730889(c.-21185T>C),
52730938(c.-21234C>T),
52731054(c.-21350C>T),
52731526(c.-21822T>A),
52731887(c.-22183C>T),
52732034(c.-22330C>T),
52732098(c.-22394T>C),
5'UTR
CDS
3'UTR
52656563(c.*1779G>A),
52656579(c.*1763G>A),
52656587(c.*1755C>T),
52656591(c.*1751A>G),
52656595(c.*1747G>T),
52656647(c.*1695T>G),
52657015(c.*1327A>G),
52657235(c.*1107A>C),
52657582(c.*760C>A),
52657659(c.*683G>A),
52657979(c.*363A>G),
52657984(c.*358G>A),
52658057(c.*285T>G),
INTRON
52658671(c.2182-126C>T),
52659489(c.2182-944A>G),
52659494(c.2182-949C>T),
52659743(c.2181+1064G>A),
52659752(c.2181+1055A>T),
52659764(c.2181+1043C>A),
52659793(c.2181+1014C>T),
52659805(c.2181+1002G>A),
52659955(c.2181+852G>A),
52660090(c.2181+717A>G),
52660257(c.2181+550T>C),
52660466(c.2181+341G>A),
52660780(c.2181+27G>A),
52661131(c.1901-44T>G),
52661253(c.1901-166G>A),
52661317(c.1901-230G>A),
52661385(c.1901-298T>A),
52661471(c.1901-384C>G),
52661488(c.1901-401C>T),
52661499(c.1901-412G>T),
52661904(c.1900+486C>T),
52662507(c.1802-19T>C),
52662581(c.1802-93T>G),
52663481(c.1640-35A>G),
52663831(c.1640-385G>A),
52664378(c.1640-932A>G),
52664526(c.1640-1080C>G),
52664557(c.1640-1111G>C),
52664759(c.1640-1313C>G),
52664802(c.1640-1356A>G),
52664839(c.1640-1393T>C),
52665167(c.1640-1721A>G),
52665408(c.1640-1962G>T),
52665456(c.1640-2010A>C),
52665484(c.1640-2038A>T),
52665516(c.1640-2070T>A),
52665518(c.1640-2072T>A),
52665568(c.1640-2122C>T),
52665663(c.1640-2217A>G),
52665787(c.1640-2341C>T),
52665813(c.1640-2367G>A),
52665825(c.1640-2379C>T),
52665849(c.1640-2403A>T),
52665908(c.1640-2462A>G),
52665947(c.1640-2501C>T),
52665949(c.1640-2503T>G),
52665955(c.1640-2509A>G),
52665956(c.1640-2510G>A),
52666124(c.1640-2678T>C),
52666141(c.1640-2695G>A),
52666177(c.1640-2731G>A),
52666248(c.1640-2802C>T),
52666255(c.1640-2809A>T),
52666339(c.1640-2893A>G),
52666344(c.1640-2898C>T),
52666423(c.1640-2977A>G),
52666587(c.1640-3141G>A),
52666617(c.1640-3171T>C),
52666642(c.1640-3196T>C),
52666829(c.1640-3383T>C),
52666961(c.1640-3515A>G),
52667070(c.1640-3624A>G),
52667071(c.1640-3625C>T),
52667139(c.1640-3693C>T),
52667263(c.1640-3817C>T),
52667326(c.1640-3880T>C),
52667336(c.1640-3890A>G),
52667427(c.1640-3981T>C),
52668643(c.1640-5197G>A),
52668655(c.1640-5209G>A),
52668687(c.1640-5241G>A),
52668754(c.1640-5308C>T),
52668755(c.1640-5309A>G),
52668760(c.1640-5314G>A),
52668853(c.1640-5407G>C),
52668867(c.1640-5421A>G),
52668880(c.1640-5434T>C),
52668939(c.1640-5493T>C),
52668940(c.1640-5494T>C),
52668953(c.1640-5507G>C),
52669066(c.1640-5620T>C),
52670003(c.1639+6475C>T),
52670391(c.1639+6087C>A),
52670479(c.1639+5999G>A),
52670645(c.1639+5833T>C),
52670685(c.1639+5793T>A),
52670727(c.1639+5751A>G),
52671548(c.1639+4930A>G),
52671653(c.1639+4825C>A),
52671786(c.1639+4692T>G),
52672254(c.1639+4224C>T),
52672552(c.1639+3926C>T),
52672895(c.1639+3583T>C),
52673010(c.1639+3468T>G),
52673168(c.1639+3310C>T),
52673281(c.1639+3197G>A),
52673484(c.1639+2994C>T),
52673680(c.1639+2798T>C),
52673702(c.1639+2776G>C),
52673722(c.1639+2756A>G),
52673743(c.1639+2735G>A),
52673744(c.1639+2734C>T),
52673787(c.1639+2691C>T),
52673875(c.1639+2603G>A),
52673911(c.1639+2567A>G),
52673912(c.1639+2566C>G),
52673981(c.1639+2497C>A),
52674026(c.1639+2452T>C),
52674036(c.1639+2442G>A),
52674067(c.1639+2411C>T),
52674192(c.1639+2286C>T),
52674203(c.1639+2275A>C),
52674233(c.1639+2245C>T),
52674398(c.1639+2080A>G),
52674412(c.1639+2066C>A),
52674489(c.1639+1989A>T),
52674499(c.1639+1979G>A),
52674656(c.1639+1822G>A),
52674789(c.1639+1689G>A),
52674827(c.1639+1651G>A),
52674863(c.1639+1615C>T),
52674909(c.1639+1569A>G),
52674965(c.1639+1513T>A),
52675012(c.1639+1466C>T),
52675264(c.1639+1214T>A),
52675485(c.1639+993A>T),
52675523(c.1639+955C>T),
52675605(c.1639+873C>G),
52675659(c.1639+819A>G),
52675695(c.1639+783A>G),
52675783(c.1639+695C>T),
52675809(c.1639+669C>T),
52675816(c.1639+662G>A),
52675817(c.1639+661T>C),
52675827(c.1639+651G>A),
52675848(c.1639+630T>C),
52675863(c.1639+615T>C),
52675913(c.1639+565G>T),
52676332(c.1639+146C>T),
52676740(c.1542-165A>T),
52676987(c.1542-412G>A),
52677074(c.1542-499G>A),
52677098(c.1542-523T>C),
52677099(c.1542-524G>A),
52677378(c.1542-803A>T),
52677525(c.1542-950G>A),
52677527(c.1542-952A>G),
52677583(c.1542-1008T>C),
52677611(c.1542-1036A>G),
52677631(c.1542-1056G>A),
52677651(c.1542-1076A>G),
52677652(c.1542-1077C>T),
52677800(c.1542-1225C>T),
52677822(c.1542-1247C>T),
52677983(c.1542-1408C>T),
52678033(c.1542-1458T>G),
52678141(c.1542-1566G>A),
52678185(c.1542-1610T>C),
52678190(c.1542-1615G>A),
52678191(c.1542-1616A>G),
52678192(c.1542-1617T>C),
52678281(c.1542-1706T>C),
52678285(c.1542-1710G>T),
52678315(c.1542-1740T>G),
52678354(c.1542-1779G>A),
52678408(c.1542-1833G>T),
52678409(c.1542-1834G>C),
52678421(c.1542-1846G>C),
52678482(c.1542-1907C>T),
52678519(c.1542-1944G>C),
52678549(c.1542-1974C>T),
52678792(c.1542-2217A>T),
52678882(c.1542-2307C>T),
52679067(c.1542-2492C>A),
52679274(c.1542-2699C>T),
52679553(c.1542-2978G>A),
52679978(c.1542-3403T>C),
52680201(c.1542-3626A>G),
52680290(c.1542-3715G>C),
52680340(c.1542-3765A>C),
52680365(c.1542-3790T>C),
52681157(c.1542-4582C>T),
52681941(c.1542-5366T>C),
52682273(c.1542-5698C>T),
52683384(c.1542-6809G>C),
52683517(c.1542-6942G>A),
52683928(c.1542-7353A>G),
52683982(c.1542-7407A>G),
52684190(c.1542-7615G>A),
52684303(c.1542-7728T>C),
52684341(c.1542-7766A>G),
52684423(c.1542-7848T>C),
52684459(c.1542-7884A>G),
52684530(c.1542-7955T>G),
52684578(c.1542-8003C>G),
52684878(c.1542-8303G>C),
52684911(c.1542-8336A>G),
52684914(c.1542-8339T>C),
52684954(c.1542-8379G>A),
52684963(c.1542-8388A>C),
52685158(c.1542-8583G>A),
52685350(c.1542-8775C>T),
52685485(c.1542-8910G>A),
52685765(c.1542-9190G>T),
52685856(c.1542-9281A>G),
52685857(c.1542-9282T>G),
52685877(c.1542-9302A>T),
52686084(c.1542-9509A>C),
52686120(c.1542-9545T>C),
52686188(c.1542-9613C>T),
52686225(c.1542-9650C>T),
52686236(c.1542-9661A>C),
52686239(c.1542-9664A>G),
52686371(c.1542-9796G>T),
52686386(c.1542-9811T>A),
52686438(c.1542-9863C>T),
52686455(c.1542-9880G>A),
52686488(c.1542-9913T>C),
52686525(c.1542-9950C>A),
52686535(c.1542-9960T>A),
52686536(c.1542-9961T>G),
52686602(c.1542-10027C>T),
52686690(c.1542-10115G>C),
52686708(c.1542-10133C>T),
52686789(c.1542-10214G>A),
52686842(c.1542-10267T>C),
52687106(c.1542-10531G>A),
52687109(c.1542-10534T>C),
52687122(c.1542-10547C>T),
52687129(c.1542-10554G>A),
52687130(c.1542-10555T>C),
52687250(c.1542-10675T>G),
52687266(c.1542-10691G>A),
52687277(c.1542-10702T>G),
52687280(c.1542-10705G>A),
52687399(c.1542-10824A>G),
52687428(c.1542-10853A>G),
52687580(c.1542-11005C>G),
52687586(c.1542-11011G>C),
52687611(c.1542-11036T>G),
52687612(c.1542-11037G>T),
52687636(c.1542-11061G>C),
52687911(c.1542-11336G>A),
52687925(c.1542-11350T>C),
52687970(c.1542-11395G>T),
52687979(c.1542-11404C>T),
52687984(c.1542-11409T>C),
52688009(c.1542-11434T>G),
52688049(c.1542-11474G>C),
52688079(c.1542-11504T>A),
52688106(c.1542-11531C>T),
52688146(c.1542-11571A>G),
52688188(c.1542-11613C>T),
52688213(c.1542-11638A>G),
52688468(c.1542-11893C>T),
52688744(c.1542-12169G>C),
52688754(c.1542-12179T>C),
52688844(c.1542-12269A>C),
52688946(c.1542-12371C>T),
52689022(c.1542-12447T>G),
52689112(c.1542-12537C>A),
52689119(c.1542-12544A>G),
52689242(c.1542-12667G>A),
52689264(c.1542-12689A>G),
52689311(c.1542-12736G>A),
52689312(c.1542-12737C>T),
52689410(c.1542-12835C>G),
52689492(c.1542-12917C>T),
52689628(c.1542-13053G>A),
52689632(c.1542-13057G>C),
52689673(c.1542-13098G>A),
52689698(c.1542-13123G>A),
52689708(c.1542-13133T>C),
52689727(c.1542-13152T>C),
52689747(c.1542-13172G>C),
52689762(c.1542-13187A>G),
52689769(c.1542-13194A>G),
52689854(c.1542-13279A>G),
52689899(c.1542-13324G>A),
52689911(c.1542-13336G>A),
52689914(c.1542-13339C>A),
52689939(c.1542-13364A>T),
52689944(c.1542-13369A>T),
52689974(c.1542-13399G>A),
52689991(c.1542-13416G>T),
52690112(c.1542-13537T>G),
52690196(c.1542-13621G>A),
52690210(c.1542-13635C>A),
52690261(c.1542-13686T>A),
52690424(c.1542-13849A>G),
52690747(c.1542-14172A>G),
52691067(c.1542-14492C>T),
52691084(c.1542-14509G>T),
52691141(c.1542-14566C>T),
52691789(c.1542-15214T>G),
52691909(c.1542-15334T>G),
52692016(c.1542-15441C>A),
52692056(c.1542-15481A>T),
52692248(c.1542-15673T>C),
52692330(c.1542-15755T>C),
52692367(c.1542-15792T>C),
52692735(c.1541+15429G>A),
52692800(c.1541+15364C>A),
52692855(c.1541+15309A>T),
52692972(c.1541+15192C>T),
52693016(c.1541+15148G>A),
52693079(c.1541+15085C>A),
52693161(c.1541+15003G>A),
52693296(c.1541+14868G>A),
52693319(c.1541+14845T>C),
52693454(c.1541+14710C>T),
52693458(c.1541+14706G>A),
52693507(c.1541+14657G>A),
52693797(c.1541+14367T>C),
52693798(c.1541+14366G>T),
52693957(c.1541+14207G>A),
52694070(c.1541+14094C>T),
52694130(c.1541+14034T>C),
52694308(c.1541+13856C>T),
52694333(c.1541+13831T>A),
52694429(c.1541+13735C>T),
52694440(c.1541+13724A>G),
52694445(c.1541+13719C>T),
52694449(c.1541+13715T>G),
52694451(c.1541+13713A>G),
52694482(c.1541+13682T>C),
52694511(c.1541+13653C>T),
52694558(c.1541+13606A>T),
52694577(c.1541+13587G>A),
52694593(c.1541+13571G>A),
52694669(c.1541+13495C>T),
52694684(c.1541+13480C>T),
52694699(c.1541+13465C>G),
52694920(c.1541+13244T>C),
52695060(c.1541+13104T>A),
52695190(c.1541+12974G>T),
52695332(c.1541+12832G>A),
52700905(c.1541+7259G>T),
52700958(c.1541+7206C>T),
52701052(c.1541+7112A>G),
52701219(c.1541+6945A>C),
52701307(c.1541+6857G>C),
52701338(c.1541+6826G>A),
52701452(c.1541+6712T>C),
52701587(c.1541+6577G>T),
52701636(c.1541+6528G>T),
52701637(c.1541+6527T>A),
52701642(c.1541+6522C>T),
52701715(c.1541+6449C>T),
52701735(c.1541+6429T>C),
52701738(c.1541+6426G>T),
52701742(c.1541+6422C>G),
52701802(c.1541+6362C>T),
52701835(c.1541+6329C>T),
52701988(c.1541+6176A>G),
52702023(c.1541+6141T>G),
52702081(c.1541+6083T>A),
52702153(c.1541+6011A>G),
52702154(c.1541+6010C>T),
52702165(c.1541+5999A>C),
52702293(c.1541+5871G>A),
52702299(c.1541+5865G>A),
52702322(c.1541+5842A>T),
52702808(c.1541+5356G>A),
52702918(c.1541+5246C>T),
52702950(c.1541+5214G>A),
52702998(c.1541+5166T>G),
52703101(c.1541+5063C>T),
52703106(c.1541+5058C>T),
52703122(c.1541+5042G>A),
52703145(c.1541+5019C>T),
52703179(c.1541+4985A>C),
52703192(c.1541+4972A>G),
52703223(c.1541+4941C>A),
52703254(c.1541+4910A>G),
52703286(c.1541+4878C>T),
52703402(c.1541+4762A>T),
52703440(c.1541+4724T>C),
52703445(c.1541+4719G>C),
52703455(c.1541+4709C>T),
52703462(c.1541+4702G>A),
52703471(c.1541+4693C>T),
52703489(c.1541+4675C>A),
52703791(c.1541+4373T>C),
52703810(c.1541+4354C>T),
52703881(c.1541+4283C>T),
52703887(c.1541+4277T>C),
52704109(c.1541+4055G>A),
52704163(c.1541+4001A>T),
52704178(c.1541+3986G>A),
52704504(c.1541+3660C>T),
52704916(c.1541+3248A>G),
52704948(c.1541+3216G>C),
52704963(c.1541+3201G>A),
52705004(c.1541+3160G>A),
52705087(c.1541+3077C>T),
52705110(c.1541+3054C>T),
52705134(c.1541+3030T>A),
52705317(c.1541+2847T>C),
52705338(c.1541+2826C>T),
52705607(c.1541+2557A>G),
52705746(c.1541+2418A>G),
52705972(c.1541+2192A>G),
52706528(c.1541+1636G>A),
52706792(c.1541+1372A>G),
52706918(c.1541+1246T>A),
52706939(c.1541+1225T>C),
52706968(c.1541+1196T>C),
52707141(c.1541+1023T>C),
52707193(c.1541+971T>G),
52707312(c.1541+852A>G),
52707318(c.1541+846C>T),
52707339(c.1541+825A>G),
52707364(c.1541+800T>C),
52707428(c.1541+736A>G),
52707619(c.1541+545T>G),
52707788(c.1541+376G>A),
52707916(c.1541+248G>A),
52708005(c.1541+159G>A),
52708021(c.1541+143A>G),
52709804(c.-51-49T>C),
52709815(c.-51-60C>T),
52710032(c.-51-277G>T),
52710077(c.-51-322A>G),
52710141(c.-51-386G>A),
52710342(c.-51-587A>G),
52710388(c.-51-633T>C),
52710561(c.-51-806T>C),
52710674(c.-51-919T>A),
52710852(c.-51-1097C>T),
52710916(c.-51-1161G>C),
52711002(c.-51-1247T>G),
52711249(c.-51-1494T>C),
52711280(c.-51-1525T>C),
52711322(c.-51-1567G>T),
52711425(c.-51-1670T>G),
52711527(c.-51-1772T>G),
52711684(c.-51-1929C>G),
52711706(c.-51-1951A>G),
52711761(c.-51-2006A>G),
52711823(c.-51-2068C>T),
52711841(c.-51-2086C>T),
52711877(c.-51-2122A>C),
52711945(c.-51-2190G>A),
52712047(c.-51-2292A>G),
52712048(c.-51-2293A>G),
52712069(c.-51-2314G>A),
52712070(c.-51-2315T>A),
52712114(c.-51-2359G>A),
52712138(c.-51-2383G>A),
52712226(c.-51-2471C>G),
52712231(c.-51-2476C>T),
52712263(c.-51-2508A>G),
52712279(c.-51-2524C>T),
52712303(c.-51-2548T>C),
52712432(c.-51-2677C>T),
52712607(c.-51-2852G>T),
52712687(c.-51-2932G>A),
52712778(c.-51-3023C>T),
52712782(c.-51-3027A>G),
52712792(c.-51-3037T>C),
52712886(c.-51-3131T>A),
52712919(c.-51-3164T>G),
52713027(c.-51-3272A>G),
52713029(c.-51-3274G>A),
52713062(c.-51-3307A>G),
52713097(c.-51-3342T>C),
52713237(c.-51-3482G>A),
52713250(c.-51-3495G>C),
52713253(c.-51-3498T>C),
52713261(c.-51-3506G>A),
52713300(c.-51-3545G>A),
52713339(c.-51-3584A>G),
52713489(c.-51-3734C>T),
52713522(c.-51-3767T>A),
52713578(c.-51-3823G>A),
52713637(c.-51-3882A>C),
52713763(c.-51-4008C>A),
52713797(c.-51-4042A>G),
52713864(c.-51-4109G>A),
52713872(c.-51-4117G>A),
52713916(c.-51-4161A>G),
52714128(c.-51-4373G>A),
52714140(c.-51-4385C>T),
52714406(c.-51-4651G>A),
52715029(c.-51-5274T>C),
52715035(c.-51-5280G>A),
52715312(c.-51-5557C>T),
52715419(c.-51-5664T>C),
52715452(c.-51-5697A>G),
52715515(c.-51-5760T>C),
52715534(c.-51-5779C>A),
52715548(c.-51-5793T>A),
52715782(c.-51-6027C>G),
52715818(c.-51-6063G>A),
52715890(c.-51-6135A>T),
52715957(c.-51-6202G>A),
52715961(c.-51-6206T>C),
52716025(c.-51-6270G>T),
52716077(c.-51-6322C>T),
52716084(c.-51-6329G>A),
52716154(c.-51-6399C>T),
52716182(c.-51-6427A>G),
52716226(c.-51-6471T>A),
52716263(c.-51-6508G>A),
52716282(c.-51-6527A>T),
52716309(c.-51-6554A>G),
52716313(c.-51-6558T>A),
52716323(c.-51-6568G>A),
52716341(c.-51-6586G>T),
52716625(c.-51-6870C>T),
52717192(c.-51-7437G>T),
52717211(c.-51-7456G>T),
52717252(c.-51-7497A>G),
52717296(c.-51-7541C>T),
52717324(c.-51-7569T>G),
52717342(c.-51-7587T>G),
52717349(c.-51-7594G>A),
52717364(c.-51-7609C>T),
52717434(c.-51-7679G>A),
52717474(c.-51-7719T>A),
52717604(c.-51-7849A>G),
52717673(c.-51-7918C>T),
52717811(c.-51-8056G>C),
52717820(c.-51-8065A>G),
52717848(c.-51-8093A>C),
52717860(c.-51-8105C>G),
52717993(c.-51-8238T>A),
52717994(c.-51-8239G>C),
52718025(c.-51-8270G>T),
52718027(c.-51-8272G>C),
52718241(c.-51-8486G>T),
52718363(c.-51-8608G>A),
52718404(c.-52+8619C>T),
52718521(c.-52+8502A>G),
52718540(c.-52+8483G>A),
52718588(c.-52+8435C>T),
52718811(c.-52+8212G>A),
52718955(c.-52+8068T>C),
52718957(c.-52+8066C>T),
52719006(c.-52+8017T>C),
52719012(c.-52+8011C>A),
52719119(c.-52+7904A>T),
52719155(c.-52+7868A>G),
52719272(c.-52+7751G>A),
52719315(c.-52+7708T>C),
52719340(c.-52+7683G>T),
52719351(c.-52+7672C>G),
52719353(c.-52+7670G>T),
52719354(c.-52+7669T>C),
52719481(c.-52+7542A>G),
52719537(c.-52+7486C>T),
52719643(c.-52+7380G>A),
52719743(c.-52+7280A>T),
52719923(c.-52+7100T>A),
52720033(c.-52+6990A>G),
52720039(c.-52+6984A>G),
52720049(c.-52+6974A>G),
52720050(c.-52+6973C>T),
52720055(c.-52+6968C>G),
52720057(c.-52+6966A>T),
52720203(c.-52+6820T>G),
52720338(c.-52+6685G>T),
52720493(c.-52+6530T>G),
52720541(c.-52+6482G>A),
52720583(c.-52+6440T>C),
52720836(c.-52+6187A>T),
52720995(c.-52+6028G>A),
52721054(c.-52+5969T>C),
52721218(c.-52+5805G>T),
52721447(c.-52+5576G>T),
52721783(c.-52+5240C>T),
52721864(c.-52+5159C>A),
52721957(c.-52+5066A>T),
52722333(c.-52+4690G>A),
52722390(c.-52+4633C>A),
52722523(c.-52+4500C>T),
52722867(c.-52+4156A>C),
52723065(c.-52+3958T>G),
52723141(c.-52+3882A>G),
52723209(c.-52+3814T>C),
52723383(c.-52+3640G>A),
52723572(c.-52+3451C>T),
52723920(c.-52+3103G>A),
52724105(c.-52+2918G>A),
52724271(c.-52+2752C>T),
52724283(c.-52+2740T>C),
52724344(c.-52+2679G>C),
52724579(c.-52+2444G>A),
52724719(c.-52+2304A>G),
52724721(c.-52+2302G>C),
52724786(c.-52+2237T>C),
52724865(c.-52+2158G>A),
52724886(c.-52+2137G>A),
52725419(c.-52+1604A>C),
52725444(c.-52+1579T>C),
52725448(c.-52+1575C>G),
52725652(c.-52+1371T>A),
52725665(c.-52+1358A>G),
52725667(c.-52+1356A>G),
52725735(c.-52+1288A>G),
52725896(c.-52+1127C>T),
52725941(c.-52+1082T>C),
52726006(c.-52+1017C>T),
52726090(c.-52+933G>A),
52726122(c.-52+901A>G),
52726193(c.-52+830T>G),
52726461(c.-52+562G>A),
52726544(c.-52+479C>T),
-1kb
52651401(c.*6941G>A),
52651624(c.*6718T>C),
52651627(c.*6715A>G),
52651656(c.*6686T>C),
52651813(c.*6529T>C),
52651887(c.*6455C>T),
52651980(c.*6362G>A),
52652048(c.*6294T>C),
52652084(c.*6258T>C),
52652122(c.*6220C>T),
52652192(c.*6150C>A),
52652325(c.*6017A>G),
52652330(c.*6012G>A),
52652385(c.*5957T>A),
52652461(c.*5881T>G),
52652469(c.*5873C>G),
52652489(c.*5853G>A),
52652497(c.*5845C>T),
52652554(c.*5788G>T),
52652767(c.*5575G>A),
52652872(c.*5470G>A),
52652963(c.*5379C>T),
52652985(c.*5357T>C),
52652997(c.*5345A>G),
52653058(c.*5284T>C),
52653184(c.*5158G>T),
52653193(c.*5149T>C),
52653242(c.*5100A>G),
52653278(c.*5064G>A),
52653312(c.*5030A>G),
52653490(c.*4852T>C),
52653893(c.*4449T>A),
52653911(c.*4431A>G),
52653977(c.*4365G>A),
52653978(c.*4364T>C),
52654088(c.*4254G>A),
52654094(c.*4248A>C),
52654147(c.*4195G>A),
52654293(c.*4049T>C),
52654300(c.*4042T>G),
52654310(c.*4032C>T),
52654386(c.*3956T>C),
52655212(c.*3130G>C),
52655239(c.*3103C>T),
52655270(c.*3072C>T),
52655283(c.*3059G>A),
|
| Insertions |
+1kb
5'UTR
CDS
3'UTR
INTRON
52658558 (c.2182-14_2182-13insT),
52658580 (c.2182-36dupT),
52658595 (c.2182-51dupT),
52660614 (c.2181+192_2181+193insA),
52660651 (c.2181+155_2181+156insGGG),
52666829 (c.1640-3384dupA),
52667427 (c.1640-3982_1640-3981insGTT),
52668714 (c.1640-5269_1640-5268insA),
52676077 (c.1639+400dupT),
52676607 (c.1542-33_1542-32insTTAACAAC),
52680709 (c.1542-4135_1542-4134insTGTTCA),
52685998 (c.1542-9424dupC),
52686904 (c.1542-10330_1542-10329insGTTTTT),
52687204 (c.1542-10630_1542-10629insT),
52690234 (c.1542-13660dupT),
52690903 (c.1542-14329dupG),
52692451 (c.1541+15712_1541+15713insGGGGG),
52705459 (c.1541+2704dupA),
52707380 (c.1541+783dupA),
52710892 (c.-51-1138_-51-1137insT),
52710899 (c.-51-1145_-51-1144insC),
52711084 (c.-51-1332_-51-1330dupAAA),
52711890 (c.-51-2138_-51-2136dupAAA),
52713735 (c.-51-3981_-51-3980insAGGC),
52713760 (c.-51-4006dupA),
52717611 (c.-51-7857_-51-7856insCT),
52719119 (c.-52+7903_-52+7904insT),
52720842 (c.-52+6180dupA),
52721049 (c.-52+5973dupA),
-1kb
|
| Deletions |
+1kb
5'UTR
CDS
3'UTR
INTRON
52661499 (c.1901-413delA),
52664286 (c.1640-844_1640-841delGTGT),
52665880 (c.1640-2435delT),
52665993 (c.1640-2555_1640-2548delGAAGGCTG),
52666439 (c.1640-2994delC),
52666905 (c.1640-3465_1640-3460delAAAACA),
52667353 (c.1640-3908delA),
52667452 (c.1640-4007delT),
52667456 (c.1640-4011delT),
52668486 (c.1640-5042_1640-5041delTG),
52668734 (c.1640-5289delG),
52669032 (c.1640-5588_1640-5587delAG),
52669368 (c.1640-5926_1640-5923delGTTA),
52669633 (c.1640-6188delT),
52669785 (c.1640-6342_1640-6340delCCC),
52669825 (c.1640-6384_1640-6380delTTCTT),
52670152 (c.1639+6325delG),
52672734 (c.1639+3743delC),
52674098 (c.1639+2378_1639+2379delCT),
52674259 (c.1639+2218delA),
52674749 (c.1639+1726_1639+1728delAAA),
52675605 (c.1639+872delA),
52676593 (c.1542-21_1542-19delTTA),
52677021 (c.1542-448_1542-447delAT),
52677901 (c.1542-1327delT),
52678257 (c.1542-1684_1542-1683delTG),
52678724 (c.1542-2150delC),
52682209 (c.1542-5637_1542-5635delTCT),
52683909 (c.1542-7336_1542-7335delTT),
52684755 (c.1542-8181delG),
52685017 (c.1542-8443delT),
52685171 (c.1542-8601_1542-8597delATGGA),
52686797 (c.1542-10224_1542-10223delTT),
52688387 (c.1542-11816_1542-11813delTTTT),
52689201 (c.1542-12628_1542-12627delTT),
52690705 (c.1542-14134_1542-14131delGAAA),
52692302 (c.1542-15728delA),
52692718 (c.1541+15444_1541+15445delGA),
52692883 (c.1541+15277_1541+15280delACAC),
52694199 (c.1541+13964delT),
52699561 (c.1541+8602delT),
52701459 (c.1541+6704delT),
52703802 (c.1541+4360_1541+4361delCT),
52704646 (c.1541+3515_1541+3517delTAA),
52704869 (c.1541+3294delA),
52705403 (c.1541+2760delA),
52705409 (c.1541+2754delA),
52707020 (c.1541+1142_1541+1143delGT),
52707221 (c.1541+939_1541+942delAGTG),
52707654 (c.1541+508_1541+509delAG),
52711465 (c.-51-1716_-51-1711delAACCTG),
52711494 (c.-51-1743_-51-1740delTTAA),
52712334 (c.-51-2583_-51-2580delGAAG),
52715185 (c.-51-5433_-51-5431delAAT),
52715425 (c.-51-5671delT),
52715594 (c.-51-5844_-51-5840delAAAAC),
52716242 (c.-51-6488delT),
52717073 (c.-51-7322_-51-7319delCTAA),
52718032 (c.-51-8286_-51-8278delCATCTCTGT),
52719512 (c.-52+7510delT),
52724199 (c.-52+2821_-52+2823delTTT),
52724710 (c.-52+2309_-52+2312delCAGT),
52724755 (c.-52+2267delA),
52724762 (c.-52+2260delA),
52725801 (c.-52+1221delT),
52726310 (c.-52+711_-52+712delAA),
52726525 (c.-52+496_-52+497delGC),
-1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 3 |
| non-synonymous num | 4 |
| synonymous substitutions |
52708313 (p.Tyr464Tyr),
52708820 (p.Leu295Leu),
52708829 (p.Leu292Leu),
|
| non-synonymous substitutions |
52709019 (p.Arg229Leu),
52709101 (p.Val202Leu),
52709133 (p.Ser191Thr),
52709154 (p.Ser184Phe),
|
B6 transcript
(ENSMUST00000156876)
|
MAADDKVAILTDDEEEQKRKYVLADPFNGICREPEPPSNETPSSTETSAIPEEEIDWIEK
HCVKVNNDLLISKVFYFFFYSAYGSLYPLLPVYYKQLGMSPSQSGLLVGIRYFIEFCSAP
FWGVVADRFRKGKIVLLFSLLCWVLFNLGIGFVKPATLRCLPKIPPTAHPTNVSHPVTVL
PMNSSTVAFFSTPPKLLQKRDVQLSETEPNISDIDLVSTALTLTSEPTRRPQTEAITHPV
TGLILNTSTVTLPPTGNVTRETTIAVVTTTKSLPSDQVTLVYDQQEVEAIFLIILVVVII
GEFFSASSVTIVDTVTLQYLGKHRDRYGLQRMWGSLGWGLAMLSVGIGIDYTHIDVLIDG
KGCKPPEYRNYQIVFIVFGVLMTMALIVATQFRFRYNHFNNSDGKGKEVEIPQVERDNST
ESSEETPTAATHSQAFNFWDLIKLLCSVQYGSVLFVAWFMGFGYGFVFTFLYWHLEDLNG
TTTLFGVCSVLSHVSELTAYFFSHKLIELIGHIRVLYIGLACNTARYIYISYLENAWTVL
PMEVLQGVTHAAIWAACISYLSAAVPPELRTSAQGILQGLHLGLGRGCGAMIGGVLVNYF
GAAATFRGIGMACLVILLLFALIQWLAVPDEEEDKTMLAERIPVPSSPVPIATIDLVQQQ
TEDVMPRVEARLPPKKTKHQEEQEDVNKPAWGVSSSPWVTFVYALYQVKELIQLTRESRA
SEIQPLQGTSENREASPAGGAQRAPRETHSASPRNQPSPDTAASQTQSSPAHPSATPHGQ
ESGEKQAQPTVGEH*
|
|
MSMv4 transcript
|
MAADDKVAILTDDEEEQKRKYVLADPFNGICREPEPPSNETPSSTETSAIPEEEIDWIEK
HCVKVNNDLLISKVFYFFFYSAYGSLYPLLPVYYKQLGMSPSQSGLLVGIRYFIEFCSAP
FWGVVADRFRKGKIVLLFSLLCWVLFNLGIGFVKPATLRCLPKIPPTAHPTNVSHPVTVL
PMNFSTVAFFTTPPKLLQKRDLQLSETEPNISDIDLVSTALTLTSEPTLRPQTEAITHPV
TGLILNTSTVTLPPTGNVTRETTIAVVTTTKSLPSDQVTLVYDQQEVEAIFLIILVVVII
GEFFSASSVTIVDTVTLQYLGKHRDRYGLQRMWGSLGWGLAMLSVGIGIDYTHIDVLIDG
KGCKPPEYRNYQIVFIVFGVLMTMALIVATQFRFRYNHFNNSDGKGKEVEIPQVERDNST
ESSEETPTAATHSQAFNFWDLIKLLCSVQYGSVLFVAWFMGFGYGFVFTFLYWHLEDLNG
TTTLFGVCSVLSHVSELTAYFFSHKLIELIGHIRVLYIGLACNTARYIYISYLENAWTVL
PMEVLQGVTHAAIWAACISYLSAAVPPELRTSAQGILQGLHLGLGRGCGAMIGGVLVNYF
GAAATFRGIGMACLVILLLFALIQWLAVPDEEEDKTMLAERIPVPSSPVPIATIDLVQQQ
TEDVMPRVEARLPPKKTKHQEEQEDVNKPAWGVSSSPWVTFVYALYQVKELIQLTRESRA
SEIQPLQGTSENREASPAGGAQRAPRETHSASPRNQPSPDTAASQTQSSPAHPSATPHGQ
ESGEKQAQPTVGEH*
|
| homology | 99.50 (795 / 795) |
|