| Reports |
| substitution |
| cSNPs | 3 |
| Insertion | 34 |
| Deletion | 43 |
| SNPs |
-1kb
45502795(c.-4862A>C),
45502822(c.-4835A>T),
45502836(c.-4821C>T),
45502871(c.-4786C>T),
45502881(c.-4776C>T),
45502892(c.-4765T>C),
45502949(c.-4708C>T),
45503001(c.-4656C>A),
45503006(c.-4651C>T),
45503102(c.-4555G>T),
45503137(c.-4520A>G),
45503438(c.-4219A>G),
45503490(c.-4167T>G),
45503525(c.-4132A>G),
45503532(c.-4125C>T),
45503563(c.-4094G>A),
45503770(c.-3887C>T),
45503803(c.-3854T>C),
45503888(c.-3769T>C),
45503958(c.-3699T>C),
45504238(c.-3419T>C),
45504337(c.-3320T>A),
45504343(c.-3314C>T),
45504346(c.-3311G>A),
45504390(c.-3267A>G),
45504400(c.-3257C>T),
45504452(c.-3205C>T),
45504471(c.-3186T>G),
45504497(c.-3160T>C),
45504527(c.-3130A>C),
45504690(c.-2967T>C),
45504695(c.-2962A>G),
45504833(c.-2824C>T),
45504868(c.-2789G>C),
45504870(c.-2787C>T),
45504961(c.-2696T>G),
45504963(c.-2694A>T),
45504986(c.-2671T>C),
45505009(c.-2648G>A),
45505138(c.-2519G>A),
45505202(c.-2455A>G),
45505248(c.-2409C>G),
45505384(c.-2273T>G),
45505390(c.-2267T>C),
45505401(c.-2256G>A),
45505417(c.-2240A>C),
45505456(c.-2201G>C),
45505479(c.-2178A>G),
45505485(c.-2172A>G),
45505614(c.-2043G>A),
45505635(c.-2022G>A),
45505758(c.-1899C>A),
45505781(c.-1876G>A),
45505932(c.-1725A>G),
45506067(c.-1590G>A),
45506339(c.-1318T>C),
45506388(c.-1269A>C),
45506594(c.-1063A>G),
45506672(c.-985T>G),
45507143(c.-514G>T),
45507221(c.-436G>T),
45507255(c.-402T>A),
45507376(c.-281A>G),
5'UTR
CDS
3'UTR
INTRON
45507936(c.87+193T>C),
45508402(c.87+659A>G),
45508451(c.87+708G>C),
45509163(c.87+1420G>T),
45509565(c.87+1822G>A),
45509653(c.87+1910G>A),
45509672(c.87+1929A>C),
45509689(c.87+1946T>C),
45509921(c.87+2178T>G),
45509995(c.87+2252A>T),
45510016(c.87+2273G>A),
45510079(c.87+2336T>C),
45510083(c.87+2340C>T),
45510087(c.87+2344C>T),
45510135(c.87+2392A>G),
45510412(c.87+2669C>T),
45510584(c.87+2841A>G),
45510587(c.87+2844G>C),
45510671(c.87+2928G>A),
45510790(c.87+3047C>G),
45510795(c.87+3052T>C),
45510825(c.87+3082C>T),
45511023(c.87+3280G>A),
45511138(c.88-3257T>C),
45511156(c.88-3239A>G),
45511213(c.88-3182T>G),
45511266(c.88-3129G>A),
45511426(c.88-2969G>A),
45511451(c.88-2944A>G),
45511454(c.88-2941T>C),
45511510(c.88-2885T>C),
45511624(c.88-2771T>C),
45511678(c.88-2717G>A),
45511682(c.88-2713T>C),
45511684(c.88-2711G>A),
45511718(c.88-2677A>G),
45511732(c.88-2663A>G),
45511774(c.88-2621T>C),
45511783(c.88-2612T>C),
45511938(c.88-2457G>A),
45512046(c.88-2349C>T),
45512064(c.88-2331C>T),
45512199(c.88-2196T>C),
45512562(c.88-1833G>A),
45512564(c.88-1831T>C),
45512574(c.88-1821C>G),
45512622(c.88-1773C>A),
45512623(c.88-1772T>G),
45512673(c.88-1722G>A),
45512749(c.88-1646A>G),
45512935(c.88-1460C>A),
45512936(c.88-1459A>G),
45512992(c.88-1403A>C),
45513119(c.88-1276T>C),
45513620(c.88-775G>C),
45513709(c.88-686A>G),
45513733(c.88-662T>A),
45513802(c.88-593A>G),
45513813(c.88-582A>G),
45514195(c.88-200G>A),
45514294(c.88-101A>G),
45514580(c.207+66C>T),
45514601(c.207+87A>G),
45514710(c.207+196A>G),
45514834(c.207+320T>A),
45514838(c.207+324T>C),
45514852(c.207+338T>C),
45514864(c.207+350C>T),
45514879(c.207+365T>C),
45514923(c.207+409A>G),
45514997(c.207+483G>A),
45514999(c.207+485G>A),
45515080(c.207+566A>G),
45515189(c.207+675G>A),
45515302(c.207+788G>A),
45515394(c.207+880T>C),
45515415(c.207+901C>T),
45515426(c.207+912G>A),
45515475(c.207+961C>T),
45515514(c.207+1000A>G),
45515572(c.207+1058C>T),
45515696(c.207+1182T>C),
45515781(c.208-1218G>C),
45515808(c.208-1191T>A),
45515841(c.208-1158T>C),
45515849(c.208-1150C>T),
45515850(c.208-1149A>G),
45515930(c.208-1069C>T),
45515940(c.208-1059C>T),
45515965(c.208-1034C>T),
45515977(c.208-1022C>T),
45516006(c.208-993T>C),
45516007(c.208-992G>A),
45516025(c.208-974C>T),
45516159(c.208-840G>A),
45516176(c.208-823C>G),
45516242(c.208-757G>A),
45516255(c.208-744T>C),
45516283(c.208-716C>A),
45516400(c.208-599T>G),
45516906(c.208-93T>C),
45516912(c.208-87C>A),
45516949(c.208-50G>A),
45517306(c.291+224G>A),
45517486(c.291+404C>A),
45517560(c.291+478C>T),
45518163(c.291+1081C>A),
45518198(c.291+1116A>G),
45518411(c.291+1329A>G),
45518415(c.291+1333T>C),
45518444(c.291+1362T>A),
45518590(c.291+1508C>T),
45518696(c.291+1614G>C),
45518780(c.291+1698G>A),
45518884(c.291+1802A>G),
45518940(c.291+1858G>T),
45518963(c.291+1881T>C),
45519054(c.292-1798T>C),
45519093(c.292-1759A>G),
45519302(c.292-1550T>C),
45519307(c.292-1545C>T),
45519426(c.292-1426T>C),
45519455(c.292-1397T>A),
45519568(c.292-1284A>G),
45519569(c.292-1283C>T),
45519748(c.292-1104G>A),
45519767(c.292-1085G>A),
45520482(c.292-370C>G),
45520523(c.292-329A>G),
45520556(c.292-296C>A),
45520659(c.292-193G>A),
45520672(c.292-180C>A),
45520675(c.292-177C>A),
45520693(c.292-159A>G),
45520772(c.292-80G>A),
45520785(c.292-67A>G),
45521338(c.465+313T>C),
45521436(c.465+411A>T),
45521853(c.465+828T>C),
45521929(c.465+904G>A),
45521989(c.465+964G>A),
45522226(c.465+1201T>C),
45522228(c.465+1203C>T),
45522233(c.465+1208G>T),
45522362(c.465+1337G>A),
45522611(c.465+1586A>G),
45522615(c.465+1590A>G),
45522644(c.465+1619C>A),
45522696(c.465+1671G>A),
45522704(c.465+1679G>A),
45522982(c.465+1957C>T),
45523180(c.465+2155A>G),
45523250(c.465+2225C>A),
45523293(c.465+2268C>T),
45523450(c.465+2425C>T),
45523487(c.465+2462T>G),
45523559(c.465+2534T>C),
45523560(c.465+2535G>A),
45523598(c.465+2573T>A),
45523649(c.465+2624T>G),
45523740(c.465+2715C>T),
45523920(c.465+2895A>G),
45524015(c.465+2990A>G),
45524052(c.465+3027C>G),
45524072(c.465+3047T>C),
45524109(c.465+3084A>G),
45524278(c.465+3253T>C),
45524294(c.465+3269T>C),
45524295(c.465+3270G>A),
45524349(c.465+3324T>C),
45524369(c.465+3344T>C),
45524669(c.465+3644A>G),
45524716(c.465+3691T>C),
45524779(c.465+3754C>T),
45524890(c.465+3865C>T),
45525146(c.465+4121C>T),
45525167(c.465+4142G>T),
45525229(c.465+4204A>G),
45525321(c.465+4296A>G),
45525350(c.465+4325C>T),
45525445(c.466-4263A>G),
45525465(c.466-4243G>A),
45525486(c.466-4222T>G),
45525499(c.466-4209C>T),
45525647(c.466-4061G>A),
45525689(c.466-4019T>C),
45525699(c.466-4009C>A),
45525729(c.466-3979T>C),
45525759(c.466-3949C>T),
45525791(c.466-3917A>G),
45526112(c.466-3596A>C),
45526185(c.466-3523C>A),
45526550(c.466-3158T>G),
45526684(c.466-3024T>C),
45527170(c.466-2538G>A),
45527271(c.466-2437C>T),
45527794(c.466-1914A>G),
45527838(c.466-1870A>G),
45528007(c.466-1701T>A),
45528036(c.466-1672A>G),
45528116(c.466-1592A>G),
45528125(c.466-1583G>A),
45528261(c.466-1447C>A),
45528272(c.466-1436A>G),
45528288(c.466-1420A>T),
45528329(c.466-1379A>G),
45528388(c.466-1320T>C),
45528431(c.466-1277G>A),
45528520(c.466-1188A>G),
45528677(c.466-1031A>G),
45528753(c.466-955A>G),
45528850(c.466-858T>C),
45529129(c.466-579C>T),
45529429(c.466-279C>T),
45529795(c.547+6A>G),
45529874(c.547+85G>T),
45530127(c.547+338T>C),
45530308(c.547+519G>T),
45530318(c.547+529G>A),
45530337(c.547+548T>C),
45530499(c.547+710G>A),
45530608(c.547+819G>A),
45530632(c.547+843C>T),
45530677(c.547+888T>C),
45530860(c.547+1071C>G),
45530965(c.547+1176C>G),
45531086(c.548-1208T>C),
45531165(c.548-1129G>C),
45531173(c.548-1121C>T),
45531202(c.548-1092C>G),
45531221(c.548-1073A>C),
45531237(c.548-1057T>G),
45531707(c.548-587T>C),
45531793(c.548-501A>G),
45531831(c.548-463A>C),
45531835(c.548-459A>G),
45531851(c.548-443A>G),
45532017(c.548-277G>A),
45532107(c.548-187A>G),
45532222(c.548-72G>A),
45532256(c.548-38G>A),
45532261(c.548-33A>G),
45532288(c.548-6A>G),
45532452(c.654+52A>C),
45532490(c.654+90C>T),
45532494(c.654+94C>A),
45532510(c.654+110T>C),
45532564(c.654+164C>T),
45532986(c.654+586T>G),
45533178(c.654+778T>G),
45533392(c.654+992G>A),
45533479(c.654+1079A>G),
45533496(c.654+1096G>A),
45533714(c.654+1314G>A),
45533756(c.654+1356T>C),
45534048(c.654+1648C>T),
45534172(c.654+1772C>A),
45534195(c.654+1795T>A),
45534242(c.654+1842G>A),
45534289(c.654+1889C>T),
45534361(c.654+1961C>T),
45534362(c.654+1962G>A),
45534380(c.654+1980C>T),
45534387(c.654+1987C>T),
45534411(c.654+2011A>G),
45534432(c.654+2032G>A),
45534439(c.654+2039G>A),
45534687(c.654+2287A>C),
45535005(c.654+2605C>T),
45535210(c.654+2810G>C),
45535307(c.654+2907G>A),
45535419(c.654+3019C>T),
45535527(c.654+3127C>T),
45535752(c.655-3273G>A),
45535999(c.655-3026C>T),
45536118(c.655-2907A>G),
45536214(c.655-2811T>C),
45536297(c.655-2728C>T),
45536366(c.655-2659G>A),
45536868(c.655-2157A>G),
45536972(c.655-2053C>T),
45537005(c.655-2020C>T),
45537118(c.655-1907G>A),
45537124(c.655-1901C>G),
45537182(c.655-1843G>A),
45537429(c.655-1596C>A),
45537495(c.655-1530T>G),
45537584(c.655-1441G>A),
45537589(c.655-1436T>C),
45537811(c.655-1214T>C),
45537904(c.655-1121A>G),
45538037(c.655-988C>T),
45538279(c.655-746C>T),
45538332(c.655-693C>T),
45538340(c.655-685G>A),
45538441(c.655-584G>T),
45538462(c.655-563G>A),
45538465(c.655-560C>T),
45538685(c.655-340G>A),
45538815(c.655-210C>T),
45538898(c.655-127G>A),
45539076(c.697+9G>T),
45539164(c.697+97A>G),
45539186(c.697+119C>T),
45539294(c.697+227C>T),
45539332(c.697+265G>A),
45539348(c.697+281G>T),
45539513(c.697+446T>C),
45539610(c.697+543G>A),
45539618(c.697+551C>G),
45539658(c.697+591A>G),
45539660(c.697+593C>T),
45539677(c.697+610T>A),
45539729(c.697+662G>A),
45539745(c.697+678T>C),
45539771(c.697+704C>T),
45539774(c.697+707C>T),
45539886(c.697+819C>A),
45539983(c.697+916C>G),
45540022(c.697+955G>A),
45540043(c.697+976C>A),
45540053(c.697+986C>T),
45540060(c.697+993C>T),
45540228(c.697+1161A>G),
45540269(c.697+1202C>T),
45540408(c.697+1341C>T),
45540413(c.697+1346T>C),
45540419(c.697+1352T>G),
45540427(c.697+1360G>A),
45540580(c.697+1513G>A),
45540608(c.697+1541A>G),
45541036(c.698-1443G>C),
45541061(c.698-1418G>T),
45541080(c.698-1399T>C),
45541137(c.698-1342G>A),
45541184(c.698-1295G>A),
45541264(c.698-1215C>T),
45541290(c.698-1189G>A),
45541347(c.698-1132G>A),
45541352(c.698-1127C>T),
45541353(c.698-1126T>G),
45541377(c.698-1102C>T),
45541395(c.698-1084C>T),
45541556(c.698-923G>A),
45541689(c.698-790T>C),
45541713(c.698-766T>A),
45541714(c.698-765G>C),
45541789(c.698-690G>A),
45541929(c.698-550T>C),
45542035(c.698-444G>A),
45542067(c.698-412G>T),
45542224(c.698-255C>T),
45542243(c.698-236C>T),
45542399(c.698-80A>G),
45542473(c.698-6G>A),
45542746(c.857+108C>T),
45542760(c.857+122A>C),
45542885(c.857+247T>G),
45542899(c.857+261G>A),
45542938(c.857+300C>T),
45542991(c.857+353C>A),
45543021(c.857+383T>C),
45543179(c.857+541A>G),
45543221(c.857+583A>G),
45543342(c.857+704G>C),
45543425(c.857+787A>C),
45543491(c.857+853G>A),
45543498(c.857+860A>G),
45543517(c.857+879C>A),
45543518(c.857+880G>A),
45543529(c.857+891A>C),
45543650(c.857+1012T>C),
45543672(c.857+1034T>G),
45543686(c.857+1048T>C),
45543792(c.857+1154A>G),
45543809(c.857+1171C>T),
45543824(c.857+1186C>T),
45543832(c.857+1194T>G),
45543833(c.857+1195C>T),
45543955(c.857+1317T>C),
45544031(c.857+1393T>C),
45544049(c.857+1411C>T),
45544053(c.857+1415A>G),
45544095(c.857+1457G>A),
45544232(c.857+1594T>C),
45544307(c.858-1566T>C),
45544360(c.858-1513T>C),
45544409(c.858-1464T>A),
45544421(c.858-1452G>C),
45544449(c.858-1424C>G),
45544679(c.858-1194A>G),
45545009(c.858-864G>C),
45545024(c.858-849A>G),
45545091(c.858-782C>T),
45545284(c.858-589C>T),
45545349(c.858-524T>C),
45545398(c.858-475T>C),
45545401(c.858-472A>G),
45545415(c.858-458T>C),
45545609(c.858-264A>T),
45545717(c.858-156A>G),
45545730(c.858-143T>C),
45545740(c.858-133C>T),
45545851(c.858-22C>T),
45545852(c.858-21C>T),
+1kb
45546411(c.*358C>G),
45546416(c.*363G>A),
45546428(c.*375C>T),
45546640(c.*587T>C),
45546751(c.*698G>A),
45546752(c.*699C>A),
45546816(c.*763G>T),
45546882(c.*829G>A),
45547300(c.*1247T>G),
45547458(c.*1405G>A),
45547553(c.*1500T>C),
45547678(c.*1625C>T),
45547682(c.*1629A>G),
45547838(c.*1785G>A),
45548121(c.*2068C>T),
45548267(c.*2214T>G),
45548390(c.*2337G>A),
45548674(c.*2621C>T),
45548943(c.*2890A>C),
45549216(c.*3163A>G),
45549376(c.*3323C>T),
45549426(c.*3373A>G),
45549454(c.*3401T>A),
45549575(c.*3522G>C),
45550280(c.*4227C>G),
45550630(c.*4577C>T),
45550755(c.*4702C>T),
45550768(c.*4715G>A),
45551163(c.*5110T>G),
45551170(c.*5117A>G),
|
| Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
45508255 (c.87+513_87+514insTTT),
45510865 (c.87+3124_87+3125insTCGA),
45512564 (c.88-1831_88-1830insC),
45512623 (c.88-1770dupG),
45512626 (c.88-1769_88-1768insG),
45513350 (c.88-1043_88-1042insGAGCGT),
45517337 (c.291+256_291+257insGAGA),
45517343 (c.291+263_291+264insGGAG),
45520347 (c.292-504dupA),
45520669 (c.292-183_292-182insTT),
45521671 (c.465+653dupT),
45521675 (c.465+652_465+653dupTT),
45522481 (c.465+1458dupA),
45523371 (c.465+2350dupG),
45523606 (c.465+2592_465+2593dupTT),
45525772 (c.466-3936_466-3935insA),
45528224 (c.466-1477dupT),
45529119 (c.466-588dupC),
45531999 (c.548-302_548-295dupTGTGTGGG),
45534856 (c.654+2457dupA),
45535228 (c.654+2828_654+2829insT),
45537723 (c.655-1302_655-1301insCC),
45537964 (c.655-1061_655-1060insAAA),
45539599 (c.697+532_697+533insAG),
45539924 (c.697+857_697+858insAAG),
45540495 (c.697+1428dupA),
45541451 (c.698-1027dupG),
45545827 (c.858-46_858-45insGAAA),
+1kb
|
| Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
45509758 (c.87+2020delT),
45510463 (c.87+2739_87+2742delGTTT),
45511494 (c.88-2895delG),
45512007 (c.88-2387_88-2385delGGG),
45512133 (c.88-2248_88-2245delGTGT),
45512363 (c.88-2030_88-2029delAG),
45514389 (c.88-5_88-2delAACA),
45514562 (c.207+55_207+56delTC),
45515165 (c.207+652delG),
45515364 (c.207+851_207+854delTGGG),
45515415 (c.207+902_207+909delTGCCAGAA),
45515603 (c.207+1097_207+1099delTTT),
45517201 (c.291+120delC),
45517277 (c.291+196delG),
45517295 (c.291+214delC),
45517757 (c.291+678delC),
45518250 (c.291+1171_291+1176delTAATAG),
45518550 (c.291+1470_291+1472delAAA),
45519538 (c.292-1306_292-1305delAA),
45521640 (c.465+616_465+618delGGG),
45522109 (c.465+1092delA),
45524271 (c.465+3247_465+3248delAT),
45528407 (c.466-1292_466-1291delTT),
45528734 (c.466-959_466-957delAAA),
45533480 (c.654+1121_654+1124delGATG),
45534568 (c.654+2172_654+2173delTC),
45536517 (c.655-2507delG),
45536765 (c.655-2252_655-2251delTT),
45537541 (c.655-1480delC),
45537544 (c.655-1480delC),
45537613 (c.655-1411_655-1404delGTATATAT),
45537749 (c.655-1275_655-1271delTGTAT),
45538340 (c.655-684delT),
45539096 (c.697+30delA),
45539205 (c.697+144delG),
45539210 (c.697+144delG),
45540554 (c.697+1489_697+1490delTA),
45540846 (c.698-1632delA),
45542168 (c.698-310delA),
45544902 (c.858-960_858-952delTAGAACCTG),
45545103 (c.858-756_858-753delTGGA),
+1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 2 |
| non-synonymous num | 1 |
| synonymous substitutions |
45514418 (p.Thr37Thr),
45546002 (p.Arg329Arg),
|
| non-synonymous substitutions |
45520906 (p.Ile116Val),
|
B6 transcript
(ENSMUST00000000260)
|
MPRIDADLKLDFKDVLLRPKRSSLKSRSEVDLERTFTFRNSKQTYSGIPIIVANMDTVGT
FEMAVVMSQHAMFTAVHKHYSLDDWKCFAETHPECLQHVAVSSGSGQNDLERMSRILEAV
PQVKFICLDVANGYSEHFVEFVKLVRSKFPEHTIMAGNVVTGEMVEELILSGADIIKVGV
GPGSVCTTRTKTGVGYPQLSAVIECADSAHGLKGHIISDGGCTCPGDVAKAFGAGADFVM
LGGMFSGHTECAGEVIERNGQKLKLFYGMSSDTAMKKHAGGVAEYRASEGKTVEVPYKGD
VENTILDILGGLRSTCTYVGAAKLKELSRRATFIRVTQQHNTVFG*
|
|
MSMv4 transcript
|
MPRIDADLKLDFKDVLLRPKRSSLKSRSEVDLERTFTFRNSKQTYSGIPIIVANMDTVGT
FEMAVVMSQHAMFTAVHKHYSLDDWKCFAETHPECLQHVAVSSGSGQNDLERMSRVLEAV
PQVKFICLDVANGYSEHFVEFVKLVRSKFPEHTIMAGNVVTGEMVEELILSGADIIKVGV
GPGSVCTTRTKTGVGYPQLSAVIECADSAHGLKGHIISDGGCTCPGDVAKAFGAGADFVM
LGGMFSGHTECAGEVIERNGQKLKLFYGMSSDTAMKKHAGGVAEYRASEGKTVEVPYKGD
VENTILDILGGLRSTCTYVGAAKLKELSRRATFIRVTQQHNTVFG*
|
| homology | 99.71 (346 / 346) |
|