| Reports |
| substitution |
| cSNPs | 2 |
| Insertion | 29 |
| Deletion | 41 |
| SNPs |
-1kb
45509163(c.-4677G>T),
45509565(c.-4275G>A),
45509653(c.-4187G>A),
45509672(c.-4168A>C),
45509689(c.-4151T>C),
45509921(c.-3919T>G),
45509995(c.-3845A>T),
45510016(c.-3824G>A),
45510079(c.-3761T>C),
45510083(c.-3757C>T),
45510087(c.-3753C>T),
45510135(c.-3705A>G),
45510412(c.-3428C>T),
45510584(c.-3256A>G),
45510587(c.-3253G>C),
45510671(c.-3169G>A),
45510790(c.-3050C>G),
45510795(c.-3045T>C),
45510825(c.-3015C>T),
45511023(c.-2817G>A),
45511138(c.-2702T>C),
45511156(c.-2684A>G),
45511213(c.-2627T>G),
45511266(c.-2574G>A),
45511426(c.-2414G>A),
45511451(c.-2389A>G),
45511454(c.-2386T>C),
45511510(c.-2330T>C),
45511624(c.-2216T>C),
45511678(c.-2162G>A),
45511682(c.-2158T>C),
45511684(c.-2156G>A),
45511718(c.-2122A>G),
45511732(c.-2108A>G),
45511774(c.-2066T>C),
45511783(c.-2057T>C),
45511938(c.-1902G>A),
45512046(c.-1794C>T),
45512064(c.-1776C>T),
45512199(c.-1641T>C),
45512562(c.-1278G>A),
45512564(c.-1276T>C),
45512574(c.-1266C>G),
45512622(c.-1218C>A),
45512623(c.-1217T>G),
45512673(c.-1167G>A),
45512749(c.-1091A>G),
45512935(c.-905C>A),
45512936(c.-904A>G),
45512992(c.-848A>C),
45513119(c.-721T>C),
45513620(c.-220G>C),
45513709(c.-131A>G),
45513733(c.-107T>A),
45513802(c.-38A>G),
45513813(c.-27A>G),
5'UTR
CDS
3'UTR
INTRON
45514195(c.76-200G>A),
45514294(c.76-101A>G),
45514580(c.195+66C>T),
45514601(c.195+87A>G),
45514710(c.195+196A>G),
45514834(c.195+320T>A),
45514838(c.195+324T>C),
45514852(c.195+338T>C),
45514864(c.195+350C>T),
45514879(c.195+365T>C),
45514923(c.195+409A>G),
45514997(c.195+483G>A),
45514999(c.195+485G>A),
45515080(c.195+566A>G),
45515189(c.195+675G>A),
45515302(c.195+788G>A),
45515394(c.195+880T>C),
45515415(c.195+901C>T),
45515426(c.195+912G>A),
45515475(c.195+961C>T),
45515514(c.195+1000A>G),
45515572(c.195+1058C>T),
45515696(c.195+1182T>C),
45515781(c.196-1218G>C),
45515808(c.196-1191T>A),
45515841(c.196-1158T>C),
45515849(c.196-1150C>T),
45515850(c.196-1149A>G),
45515930(c.196-1069C>T),
45515940(c.196-1059C>T),
45515965(c.196-1034C>T),
45515977(c.196-1022C>T),
45516006(c.196-993T>C),
45516007(c.196-992G>A),
45516025(c.196-974C>T),
45516159(c.196-840G>A),
45516176(c.196-823C>G),
45516242(c.196-757G>A),
45516255(c.196-744T>C),
45516283(c.196-716C>A),
45516400(c.196-599T>G),
45516906(c.196-93T>C),
45516912(c.196-87C>A),
45516949(c.196-50G>A),
45517306(c.279+224G>A),
45517486(c.279+404C>A),
45517560(c.279+478C>T),
45518163(c.279+1081C>A),
45518198(c.279+1116A>G),
45518411(c.279+1329A>G),
45518415(c.279+1333T>C),
45518444(c.279+1362T>A),
45518590(c.279+1508C>T),
45518696(c.279+1614G>C),
45518780(c.279+1698G>A),
45518884(c.279+1802A>G),
45518940(c.279+1858G>T),
45518963(c.279+1881T>C),
45519054(c.280-1798T>C),
45519093(c.280-1759A>G),
45519302(c.280-1550T>C),
45519307(c.280-1545C>T),
45519426(c.280-1426T>C),
45519455(c.280-1397T>A),
45519568(c.280-1284A>G),
45519569(c.280-1283C>T),
45519748(c.280-1104G>A),
45519767(c.280-1085G>A),
45520482(c.280-370C>G),
45520523(c.280-329A>G),
45520556(c.280-296C>A),
45520659(c.280-193G>A),
45520672(c.280-180C>A),
45520675(c.280-177C>A),
45520693(c.280-159A>G),
45520772(c.280-80G>A),
45520785(c.280-67A>G),
45521338(c.453+313T>C),
45521436(c.453+411A>T),
45521853(c.453+828T>C),
45521929(c.453+904G>A),
45521989(c.453+964G>A),
45522226(c.453+1201T>C),
45522228(c.453+1203C>T),
45522233(c.453+1208G>T),
45522362(c.453+1337G>A),
45522611(c.453+1586A>G),
45522615(c.453+1590A>G),
45522644(c.453+1619C>A),
45522696(c.453+1671G>A),
45522704(c.453+1679G>A),
45522982(c.453+1957C>T),
45523180(c.453+2155A>G),
45523250(c.453+2225C>A),
45523293(c.453+2268C>T),
45523450(c.453+2425C>T),
45523487(c.453+2462T>G),
45523559(c.453+2534T>C),
45523560(c.453+2535G>A),
45523598(c.453+2573T>A),
45523649(c.453+2624T>G),
45523740(c.453+2715C>T),
45523920(c.453+2895A>G),
45524015(c.453+2990A>G),
45524052(c.453+3027C>G),
45524072(c.453+3047T>C),
45524109(c.453+3084A>G),
45524278(c.453+3253T>C),
45524294(c.453+3269T>C),
45524295(c.453+3270G>A),
45524349(c.453+3324T>C),
45524369(c.453+3344T>C),
45524669(c.453+3644A>G),
45524716(c.453+3691T>C),
45524779(c.453+3754C>T),
45524890(c.453+3865C>T),
45525146(c.453+4121C>T),
45525167(c.453+4142G>T),
45525229(c.453+4204A>G),
45525321(c.453+4296A>G),
45525350(c.453+4325C>T),
45525445(c.454-4263A>G),
45525465(c.454-4243G>A),
45525486(c.454-4222T>G),
45525499(c.454-4209C>T),
45525647(c.454-4061G>A),
45525689(c.454-4019T>C),
45525699(c.454-4009C>A),
45525729(c.454-3979T>C),
45525759(c.454-3949C>T),
45525791(c.454-3917A>G),
45526112(c.454-3596A>C),
45526185(c.454-3523C>A),
45526550(c.454-3158T>G),
45526684(c.454-3024T>C),
45527170(c.454-2538G>A),
45527271(c.454-2437C>T),
45527794(c.454-1914A>G),
45527838(c.454-1870A>G),
45528007(c.454-1701T>A),
45528036(c.454-1672A>G),
45528116(c.454-1592A>G),
45528125(c.454-1583G>A),
45528261(c.454-1447C>A),
45528272(c.454-1436A>G),
45528288(c.454-1420A>T),
45528329(c.454-1379A>G),
45528388(c.454-1320T>C),
45528431(c.454-1277G>A),
45528520(c.454-1188A>G),
45528677(c.454-1031A>G),
45528753(c.454-955A>G),
45528850(c.454-858T>C),
45529129(c.454-579C>T),
45529429(c.454-279C>T),
45529795(c.535+6A>G),
45529874(c.535+85G>T),
45530127(c.535+338T>C),
45530308(c.535+519G>T),
45530318(c.535+529G>A),
45530337(c.535+548T>C),
45530499(c.535+710G>A),
45530608(c.535+819G>A),
45530632(c.535+843C>T),
45530677(c.535+888T>C),
45530860(c.535+1071C>G),
45530965(c.535+1176C>G),
45531086(c.536-1208T>C),
45531165(c.536-1129G>C),
45531173(c.536-1121C>T),
45531202(c.536-1092C>G),
45531221(c.536-1073A>C),
45531237(c.536-1057T>G),
45531707(c.536-587T>C),
45531793(c.536-501A>G),
45531831(c.536-463A>C),
45531835(c.536-459A>G),
45531851(c.536-443A>G),
45532017(c.536-277G>A),
45532107(c.536-187A>G),
45532222(c.536-72G>A),
45532256(c.536-38G>A),
45532261(c.536-33A>G),
45532288(c.536-6A>G),
45532452(c.642+52A>C),
45532490(c.642+90C>T),
45532494(c.642+94C>A),
45532510(c.642+110T>C),
45532564(c.642+164C>T),
45532986(c.642+586T>G),
45533178(c.642+778T>G),
45533392(c.642+992G>A),
45533479(c.642+1079A>G),
45533496(c.642+1096G>A),
45533714(c.642+1314G>A),
45533756(c.642+1356T>C),
45534048(c.642+1648C>T),
45534172(c.642+1772C>A),
45534195(c.642+1795T>A),
45534242(c.642+1842G>A),
45534289(c.642+1889C>T),
45534361(c.642+1961C>T),
45534362(c.642+1962G>A),
45534380(c.642+1980C>T),
45534387(c.642+1987C>T),
45534411(c.642+2011A>G),
45534432(c.642+2032G>A),
45534439(c.642+2039G>A),
45534687(c.642+2287A>C),
45535005(c.642+2605C>T),
45535210(c.642+2810G>C),
45535307(c.642+2907G>A),
45535419(c.642+3019C>T),
45535527(c.642+3127C>T),
45535752(c.643-3273G>A),
45535999(c.643-3026C>T),
45536118(c.643-2907A>G),
45536214(c.643-2811T>C),
45536297(c.643-2728C>T),
45536366(c.643-2659G>A),
45536868(c.643-2157A>G),
45536972(c.643-2053C>T),
45537005(c.643-2020C>T),
45537118(c.643-1907G>A),
45537124(c.643-1901C>G),
45537182(c.643-1843G>A),
45537429(c.643-1596C>A),
45537495(c.643-1530T>G),
45537584(c.643-1441G>A),
45537589(c.643-1436T>C),
45537811(c.643-1214T>C),
45537904(c.643-1121A>G),
45538037(c.643-988C>T),
45538279(c.643-746C>T),
45538332(c.643-693C>T),
45538340(c.643-685G>A),
45538441(c.643-584G>T),
45538462(c.643-563G>A),
45538465(c.643-560C>T),
45538685(c.643-340G>A),
45538815(c.643-210C>T),
45538898(c.643-127G>A),
45539076(c.685+9G>T),
45539164(c.685+97A>G),
45539186(c.685+119C>T),
45539294(c.685+227C>T),
45539332(c.685+265G>A),
45539348(c.685+281G>T),
45539513(c.685+446T>C),
45539610(c.685+543G>A),
45539618(c.685+551C>G),
45539658(c.685+591A>G),
45539660(c.685+593C>T),
45539677(c.685+610T>A),
45539729(c.685+662G>A),
45539745(c.685+678T>C),
45539771(c.685+704C>T),
45539774(c.685+707C>T),
45539886(c.685+819C>A),
45539983(c.685+916C>G),
45540022(c.685+955G>A),
45540043(c.685+976C>A),
45540053(c.685+986C>T),
45540060(c.685+993C>T),
45540228(c.685+1161A>G),
45540269(c.685+1202C>T),
45540408(c.685+1341C>T),
45540413(c.685+1346T>C),
45540419(c.685+1352T>G),
45540427(c.685+1360G>A),
45540580(c.685+1513G>A),
45540608(c.685+1541A>G),
45541036(c.686-1443G>C),
45541061(c.686-1418G>T),
45541080(c.686-1399T>C),
45541137(c.686-1342G>A),
45541184(c.686-1295G>A),
45541264(c.686-1215C>T),
45541290(c.686-1189G>A),
45541347(c.686-1132G>A),
45541352(c.686-1127C>T),
45541353(c.686-1126T>G),
45541377(c.686-1102C>T),
45541395(c.686-1084C>T),
45541556(c.686-923G>A),
45541689(c.686-790T>C),
45541713(c.686-766T>A),
45541714(c.686-765G>C),
45541789(c.686-690G>A),
45541929(c.686-550T>C),
45542035(c.686-444G>A),
45542067(c.686-412G>T),
45542224(c.686-255C>T),
45542243(c.686-236C>T),
45542399(c.686-80A>G),
45542473(c.686-6G>A),
45542746(c.845+108C>T),
45542760(c.845+122A>C),
45542885(c.845+247T>G),
45542899(c.845+261G>A),
45542938(c.845+300C>T),
45542991(c.845+353C>A),
45543021(c.845+383T>C),
45543179(c.845+541A>G),
45543221(c.845+583A>G),
45543342(c.845+704G>C),
45543425(c.845+787A>C),
45543491(c.845+853G>A),
45543498(c.845+860A>G),
45543517(c.845+879C>A),
45543518(c.845+880G>A),
45543529(c.845+891A>C),
45543650(c.845+1012T>C),
45543672(c.845+1034T>G),
45543686(c.845+1048T>C),
45543792(c.845+1154A>G),
45543809(c.845+1171C>T),
45543824(c.845+1186C>T),
45543832(c.845+1194T>G),
45543833(c.845+1195C>T),
45543955(c.845+1317T>C),
45544031(c.845+1393T>C),
45544049(c.845+1411C>T),
45544053(c.845+1415A>G),
45544095(c.845+1457G>A),
45544232(c.845+1594T>C),
45544307(c.846-1566T>C),
45544360(c.846-1513T>C),
45544409(c.846-1464T>A),
45544421(c.846-1452G>C),
45544449(c.846-1424C>G),
45544679(c.846-1194A>G),
45545009(c.846-864G>C),
45545024(c.846-849A>G),
45545091(c.846-782C>T),
45545284(c.846-589C>T),
45545349(c.846-524T>C),
45545398(c.846-475T>C),
45545401(c.846-472A>G),
45545415(c.846-458T>C),
45545609(c.846-264A>T),
45545717(c.846-156A>G),
45545730(c.846-143T>C),
45545740(c.846-133C>T),
45545851(c.846-22C>T),
45545852(c.846-21C>T),
+1kb
45546002(c.*104G>A),
45546096(c.*198C>T),
45546279(c.*381C>T),
45546345(c.*447A>G),
45546411(c.*513C>G),
45546416(c.*518G>A),
45546428(c.*530C>T),
45546640(c.*742T>C),
45546751(c.*853G>A),
45546752(c.*854C>A),
45546816(c.*918G>T),
45546882(c.*984G>A),
45547300(c.*1402T>G),
45547458(c.*1560G>A),
45547553(c.*1655T>C),
45547678(c.*1780C>T),
45547682(c.*1784A>G),
45547838(c.*1940G>A),
45548121(c.*2223C>T),
45548267(c.*2369T>G),
45548390(c.*2492G>A),
45548674(c.*2776C>T),
45548943(c.*3045A>C),
45549216(c.*3318A>G),
45549376(c.*3478C>T),
45549426(c.*3528A>G),
45549454(c.*3556T>A),
45549575(c.*3677G>C),
45550280(c.*4382C>G),
45550630(c.*4732C>T),
45550755(c.*4857C>T),
45550768(c.*4870G>A),
|
| Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
45517337 (c.279+256_279+257insGAGA),
45517343 (c.279+263_279+264insGGAG),
45520347 (c.280-504dupA),
45520669 (c.280-183_280-182insTT),
45521671 (c.453+653dupT),
45521675 (c.453+652_453+653dupTT),
45522481 (c.453+1458dupA),
45523371 (c.453+2350dupG),
45523606 (c.453+2592_453+2593dupTT),
45525772 (c.454-3936_454-3935insA),
45528224 (c.454-1477dupT),
45529119 (c.454-588dupC),
45531999 (c.536-302_536-295dupTGTGTGGG),
45534856 (c.642+2457dupA),
45535228 (c.642+2828_642+2829insT),
45537723 (c.643-1302_643-1301insCC),
45537964 (c.643-1061_643-1060insAAA),
45539599 (c.685+532_685+533insAG),
45539924 (c.685+857_685+858insAAG),
45540495 (c.685+1428dupA),
45541451 (c.686-1027dupG),
45545827 (c.846-46_846-45insGAAA),
+1kb
|
| Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
45514389 (c.76-5_76-2delAACA),
45514562 (c.195+55_195+56delTC),
45515165 (c.195+652delG),
45515364 (c.195+851_195+854delTGGG),
45515415 (c.195+902_195+909delTGCCAGAA),
45515603 (c.195+1097_195+1099delTTT),
45517201 (c.279+120delC),
45517277 (c.279+196delG),
45517295 (c.279+214delC),
45517757 (c.279+678delC),
45518250 (c.279+1171_279+1176delTAATAG),
45518550 (c.279+1470_279+1472delAAA),
45519538 (c.280-1306_280-1305delAA),
45521640 (c.453+616_453+618delGGG),
45522109 (c.453+1092delA),
45524271 (c.453+3247_453+3248delAT),
45528407 (c.454-1292_454-1291delTT),
45528734 (c.454-959_454-957delAAA),
45533480 (c.642+1121_642+1124delGATG),
45534568 (c.642+2172_642+2173delTC),
45536517 (c.643-2507delG),
45536765 (c.643-2252_643-2251delTT),
45537541 (c.643-1480delC),
45537544 (c.643-1480delC),
45537613 (c.643-1411_643-1404delGTATATAT),
45537749 (c.643-1275_643-1271delTGTAT),
45538340 (c.643-684delT),
45539096 (c.685+30delA),
45539205 (c.685+144delG),
45539210 (c.685+144delG),
45540554 (c.685+1489_685+1490delTA),
45540846 (c.686-1632delA),
45542168 (c.686-310delA),
45544902 (c.846-960_846-952delTAGAACCTG),
45545103 (c.846-756_846-753delTGGA),
+1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 1 |
| non-synonymous num | 1 |
| synonymous substitutions |
45514418 (p.Thr33Thr),
|
| non-synonymous substitutions |
45520906 (p.Ile112Val),
|
B6 transcript
(ENSMUST00000128873)
|
LPAEPKGKGIKELWLGAGKCVEWFKVDLERTFTFRNSKQTYSGIPIIVANMDTVGTFEMA
VVMSQHAMFTAVHKHYSLDDWKCFAETHPECLQHVAVSSGSGQNDLERMSRILEAVPQVK
FICLDVANGYSEHFVEFVKLVRSKFPEHTIMAGNVVTGEMVEELILSGADIIKVGVGPGS
VCTTRTKTGVGYPQLSAVIECADSAHGLKGHIISDGGCTCPGDVAKAFGAGADFVMLGGM
FSGHTECAGEVIERNGQKLKLFYGMSSDTAMKKHAGGVAEYRASEGKTVE
|
|
MSMv4 transcript
|
LPAEPKGKGIKELWLGAGKCVEWFKVDLERTFTFRNSKQTYSGIPIIVANMDTVGTFEMA
VVMSQHAMFTAVHKHYSLDDWKCFAETHPECLQHVAVSSGSGQNDLERMSRVLEAVPQVK
FICLDVANGYSEHFVEFVKLVRSKFPEHTIMAGNVVTGEMVEELILSGADIIKVGVGPGS
VCTTRTKTGVGYPQLSAVIECADSAHGLKGHIISDGGCTCPGDVAKAFGAGADFVMLGGM
FSGHTECAGEVIERNGQKLKLFYGMSSDTAMKKHAGGVAEYRASEGKTVE
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| homology | 99.66 (290 / 290) |
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