Reports |
substitution |
cSNPs | 1 |
Insertion | 24 |
Deletion | 52 |
SNPs |
-1kb
54499115(c.-4761A>G),
54499207(c.-4669A>G),
54499312(c.-4564C>T),
54499313(c.-4563A>G),
54499407(c.-4469G>A),
54499742(c.-4134G>A),
54499839(c.-4037C>T),
54499840(c.-4036A>G),
54499929(c.-3947T>C),
54500082(c.-3794T>C),
54500470(c.-3406C>T),
54500602(c.-3274C>T),
54501263(c.-2613C>T),
54501400(c.-2476T>C),
54501425(c.-2451T>G),
54501711(c.-2165G>A),
54501768(c.-2108A>G),
54502223(c.-1653T>A),
54502256(c.-1620G>T),
54502257(c.-1619T>G),
54502527(c.-1349A>G),
54502534(c.-1342G>C),
54502703(c.-1173T>C),
54502735(c.-1141G>A),
54503060(c.-816T>C),
54503110(c.-766C>T),
54503778(c.-98T>G),
5'UTR
CDS
3'UTR
INTRON
54504390(c.129+386A>G),
54504769(c.129+765G>A),
54504802(c.129+798G>A),
54504808(c.129+804A>G),
54504812(c.129+808C>G),
54504813(c.129+809A>T),
54504877(c.129+873C>T),
54505028(c.129+1024G>A),
54505165(c.129+1161G>A),
54505174(c.129+1170C>G),
54505277(c.129+1273T>C),
54505280(c.129+1276G>C),
54505431(c.129+1427T>C),
54505648(c.129+1644G>A),
54506161(c.129+2157G>A),
54506292(c.129+2288A>G),
54506316(c.129+2312G>A),
54506394(c.129+2390T>C),
54506407(c.129+2403G>T),
54506425(c.129+2421C>G),
54506470(c.129+2466G>A),
54507178(c.129+3174A>G),
54507369(c.129+3365A>G),
54507370(c.129+3366T>C),
54507373(c.129+3369A>T),
54507383(c.129+3379T>G),
54507472(c.129+3468A>G),
54507583(c.129+3579A>G),
54507763(c.129+3759A>G),
54507886(c.129+3882A>G),
54507961(c.129+3957A>G),
54508690(c.129+4686T>C),
54508852(c.129+4848G>A),
54508857(c.129+4853T>C),
54508999(c.129+4995C>A),
54509087(c.129+5083T>C),
54509185(c.129+5181C>G),
54509385(c.129+5381G>T),
54509406(c.129+5402G>T),
54509428(c.129+5424A>C),
54509465(c.129+5461C>T),
54509577(c.129+5573A>T),
54509603(c.129+5599C>T),
54509631(c.129+5627A>G),
54509834(c.129+5830T>A),
54509958(c.129+5954A>G),
54510000(c.129+5996G>T),
54510014(c.129+6010G>A),
54510072(c.129+6068A>G),
54510102(c.129+6098G>T),
54510116(c.129+6112A>G),
54510147(c.129+6143T>C),
54510160(c.129+6156G>A),
54510162(c.129+6158G>A),
54510206(c.129+6202T>C),
54510273(c.129+6269C>A),
54510426(c.129+6422C>T),
54510766(c.129+6762G>T),
54510883(c.129+6879A>T),
54510939(c.129+6935C>T),
54511338(c.129+7334A>G),
54511355(c.129+7351A>G),
54511406(c.129+7402G>A),
54511468(c.129+7464T>C),
54511496(c.129+7492C>T),
54511497(c.129+7493C>A),
54511596(c.129+7592A>G),
54511798(c.129+7794C>G),
54511807(c.129+7803G>A),
54511946(c.129+7942C>T),
54512043(c.129+8039C>T),
54512054(c.129+8050C>T),
54512757(c.129+8753T>C),
54512791(c.129+8787G>A),
54513002(c.129+8998C>A),
54513124(c.129+9120G>A),
54513692(c.129+9688A>T),
54513823(c.129+9819C>T),
54514266(c.129+10262A>G),
54515134(c.129+11130C>T),
54515142(c.129+11138C>T),
54515240(c.129+11236G>A),
54515500(c.129+11496G>A),
54516002(c.129+11998A>G),
54516712(c.130-11592G>A),
54517168(c.130-11136T>A),
54518378(c.130-9926T>C),
54518492(c.130-9812G>T),
54518745(c.130-9559T>A),
54518842(c.130-9462A>G),
54519073(c.130-9231T>C),
54519182(c.130-9122T>G),
54519232(c.130-9072G>A),
54519336(c.130-8968A>G),
54519362(c.130-8942A>G),
54519587(c.130-8717G>A),
54519588(c.130-8716C>G),
54519874(c.130-8430G>A),
54520040(c.130-8264C>A),
54520145(c.130-8159C>T),
54520270(c.130-8034T>G),
54520976(c.130-7328T>C),
54521203(c.130-7101T>C),
54521393(c.130-6911G>T),
54521492(c.130-6812T>C),
54522136(c.130-6168A>G),
54522190(c.130-6114G>T),
54522526(c.130-5778A>G),
54522803(c.130-5501A>C),
54522877(c.130-5427G>A),
54523305(c.130-4999C>T),
54523454(c.130-4850C>T),
54523519(c.130-4785T>C),
54523520(c.130-4784G>T),
54523521(c.130-4783C>T),
54523597(c.130-4707C>G),
54523709(c.130-4595G>A),
54523805(c.130-4499T>C),
54524330(c.130-3974A>G),
54524985(c.130-3319C>T),
54525014(c.130-3290C>T),
54525017(c.130-3287G>A),
54525021(c.130-3283G>A),
54525132(c.130-3172T>C),
54525195(c.130-3109C>T),
54525203(c.130-3101C>T),
54525209(c.130-3095G>A),
54525214(c.130-3090G>A),
54525227(c.130-3077G>A),
54525228(c.130-3076G>A),
54525231(c.130-3073G>A),
54525235(c.130-3069A>G),
54525249(c.130-3055G>A),
54525571(c.130-2733G>A),
54525756(c.130-2548C>A),
54525786(c.130-2518C>T),
54526281(c.130-2023C>T),
54526500(c.130-1804G>A),
54526928(c.130-1376G>C),
54526939(c.130-1365T>G),
54527221(c.130-1083C>T),
54527538(c.130-766A>G),
54527950(c.130-354G>C),
54527976(c.130-328A>T),
54530054(c.432+831A>G),
54530417(c.432+1194A>G),
54530689(c.432+1466A>G),
54531594(c.432+2371G>C),
54531695(c.432+2472T>C),
54532137(c.432+2914A>G),
54532151(c.432+2928T>C),
54532248(c.432+3025G>A),
54532254(c.432+3031T>C),
54533337(c.433-3745C>T),
54533338(c.433-3744A>C),
54533516(c.433-3566A>G),
54533631(c.433-3451G>A),
54533681(c.433-3401C>T),
54533781(c.433-3301A>C),
54533964(c.433-3118G>A),
54534294(c.433-2788G>C),
54534333(c.433-2749G>A),
54534403(c.433-2679T>G),
54534452(c.433-2630T>G),
54534583(c.433-2499C>T),
54534765(c.433-2317C>A),
54535565(c.433-1517G>C),
54535585(c.433-1497C>T),
54536005(c.433-1077G>A),
54536051(c.433-1031T>C),
54536564(c.433-518T>C),
54536580(c.433-502C>T),
54536633(c.433-449C>T),
54536733(c.433-349C>T),
54536816(c.433-266C>A),
54536919(c.433-163C>A),
54537008(c.433-74G>T),
54537372(c.587+136T>C),
54537487(c.587+251C>G),
54537623(c.587+387T>A),
54537655(c.587+419G>A),
54537719(c.587+483G>A),
54537792(c.587+556G>T),
54537926(c.587+690G>A),
54537985(c.587+749C>A),
54538035(c.587+799C>T),
54538068(c.587+832C>T),
54538140(c.587+904A>G),
54538149(c.587+913T>C),
54538161(c.587+925C>T),
54538199(c.587+963T>G),
54538287(c.587+1051A>G),
54538731(c.588-973G>T),
54539180(c.588-524A>G),
54539205(c.588-499T>C),
54539224(c.588-480T>G),
54539364(c.588-340G>A),
54539418(c.588-286C>T),
54539461(c.588-243C>T),
54539525(c.588-179C>T),
54539896(c.740+40A>G),
54539953(c.740+97A>C),
54539984(c.740+128A>G),
54540248(c.740+392G>A),
54541094(c.741-330T>C),
54541143(c.741-281G>C),
54541953(c.869+401A>G),
54542477(c.869+925T>G),
54542523(c.869+971A>G),
54542589(c.869+1037A>T),
54542603(c.869+1051T>C),
54542665(c.869+1113T>C),
54542732(c.869+1180C>T),
54542772(c.869+1220G>A),
54542960(c.869+1408C>T),
54542961(c.869+1409A>G),
54542990(c.869+1438A>G),
54543138(c.869+1586T>G),
54543307(c.869+1755G>A),
54543465(c.869+1913C>G),
54543590(c.869+2038C>T),
54543668(c.869+2116T>G),
54544001(c.869+2449A>G),
54544117(c.869+2565T>C),
54546893(c.870-84C>T),
54546919(c.870-58A>C),
54547210(c.1027-45A>T),
54547360(c.1111+21A>G),
54547459(c.1111+120G>A),
54547908(c.1111+569A>C),
54547909(c.1111+570G>A),
54548006(c.1111+667C>A),
54548129(c.1111+790G>T),
54548265(c.1111+926T>C),
54548279(c.1111+940C>T),
54548682(c.1111+1343C>G),
54549142(c.1112-1241T>A),
54549182(c.1112-1201T>A),
54549204(c.1112-1179T>A),
54549242(c.1112-1141T>C),
54549421(c.1112-962A>G),
54549619(c.1112-764C>T),
+1kb
54551313(c.*680C>A),
54551552(c.*919C>T),
54551597(c.*964G>A),
54551674(c.*1041A>C),
54551711(c.*1078A>C),
54551772(c.*1139G>A),
54551907(c.*1274A>G),
54551912(c.*1279G>A),
54551918(c.*1285A>G),
54552034(c.*1401T>C),
54552178(c.*1545T>G),
54552180(c.*1547G>T),
54552329(c.*1696T>A),
54552331(c.*1698T>A),
54552339(c.*1706G>A),
54552362(c.*1729C>T),
54553394(c.*2761T>C),
54553418(c.*2785T>C),
54553530(c.*2897G>A),
54553639(c.*3006A>G),
54553652(c.*3019T>C),
54553679(c.*3046A>T),
54553681(c.*3048G>C),
54553788(c.*3155T>C),
54553865(c.*3232G>T),
54553991(c.*3358T>C),
54554002(c.*3369A>G),
54554104(c.*3471G>A),
54554120(c.*3487T>C),
54554145(c.*3512T>C),
54554160(c.*3527G>A),
54554166(c.*3533A>G),
54555653(c.*5020G>A),
54555677(c.*5044C>A),
54555685(c.*5052T>C),
54555707(c.*5074A>G),
54555718(c.*5085C>T),
54555859(c.*5226A>G),
54555929(c.*5296C>T),
54555951(c.*5318A>T),
54555952(c.*5319G>A),
54555986(c.*5353C>T),
54556120(c.*5487G>A),
54556121(c.*5488T>C),
54556136(c.*5503G>A),
54556210(c.*5577T>C),
54556238(c.*5605G>A),
|
Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
54505113 (c.129+1109_129+1110insA),
54506454 (c.129+2451_129+2452insCT),
54506736 (c.129+2732_129+2733insGATCCA),
54507499 (c.129+3495_129+3496insTTC),
54508192 (c.129+4195dupT),
54508811 (c.129+4807_129+4808insAA),
54509586 (c.129+5582_129+5583dupTT),
54511005 (c.129+7003_129+7004insGGCTCA),
54518631 (c.130-9668_130-9667insAAGAGA),
54520617 (c.130-7672_130-7669dupCAAA),
54521117 (c.130-7185dupT),
54531978 (c.432+2756_432+2757insTGGA),
54534153 (c.433-2929_433-2928insCC),
54535168 (c.433-1906dupG),
54537330 (c.587+93_587+94dupTG),
54541762 (c.869+210dupA),
54549204 (c.1112-1171dupA),
54549768 (c.1112-614_1112-613insGCCCCT),
54549943 (c.1112-438_1112-437insATA),
+1kb
|
Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
54504314 (c.129+316delG),
54504760 (c.129+758delC),
54507237 (c.129+3234delA),
54507268 (c.129+3268delG),
54507271 (c.129+3268delG),
54507744 (c.129+3751_129+3753delAAA),
54509514 (c.129+5511delA),
54509620 (c.129+5617_129+5620delTATA),
54509789 (c.129+5786delT),
54509845 (c.129+5842_129+5844delAGG),
54510103 (c.129+6100delG),
54510166 (c.129+6163delA),
54510387 (c.129+6385delA),
54511999 (c.129+8008_129+8010delAAA),
54513959 (c.129+9963_129+9964delTT),
54514243 (c.129+10251delA),
54519662 (c.130-8639_130-8632delGTAATGGT),
54521616 (c.130-6687delT),
54521653 (c.130-6646_130-6645delAC),
54521657 (c.130-6646_130-6645delAC),
54523671 (c.130-4632delG),
54523683 (c.130-4620_130-4619delGG),
54523721 (c.130-4574delA),
54530032 (c.432+819delA),
54530621 (c.432+1405delG),
54530627 (c.432+1405delG),
54530663 (c.432+1441_432+1446delCTTCTT),
54531557 (c.432+2343_432+2348delGCTTGG),
54533052 (c.432+3830_432+3837delACATACAT),
54534097 (c.433-2984_433-2974delACTCTTCCCCC),
54534953 (c.433-2120_433-2119delAA),
54536238 (c.433-843_433-839delCACAG),
54536275 (c.433-806_433-801delCACAGT),
54537353 (c.587+126_587+129delAGAG),
54537361 (c.587+126_587+129delAGAG),
54537810 (c.587+584_587+589delTATATA),
54539994 (c.740+139_740+141delAAG),
54540002 (c.740+147_740+148delGA),
54540092 (c.740+240delG),
54540095 (c.740+240delG),
54542556 (c.869+1033_869+1040delACACACAC),
54544406 (c.870-2567_870-2565delCTC),
54548900 (c.1112-1479_1112-1476delCCTC),
54548988 (c.1112-1394_1112-1392delCTC),
54549731 (c.1112-651_1112-649delGGG),
+1kb
|
coding sequence substitutions |
premature termination by the nucleotide substitution | 0 |
synonymous num | 1 |
non-synonymous num | 0 |
synonymous substitutions |
54547266 (p.Thr346Thr),
|
non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000118072)
|
MEDFIVISDDSGSESSAGTRSGRARRLRRALSRTPGALPRRTVSKGQKLEPIPHRRLRMV
TNTIEENFPLGTVQFLMDFVSPQHYPPREIVAHIVQKILLSGSETVDVLKEAYMLLMKIQ
QLHPANAKTVEWDWKLLTYVMEEEGQTLPGRVLFLRYVVQTLEDDFQQILRRQRQHLQQS
IANTVLSCDKQPHNVRDVIKWLVKAVTENELTPPQDETQTSPRTGVLKTSSDHLSPRPNQ
NKNTNQLIVCQLQRMLSIAVEVDRTPTCSSNKIAEMMFGFVLDIPERSQREMFFTTMESH
LLRCKVLEIIFLHSCETPTRLPLSLAQTLYFLNNSTSLLKCQSDKTQWQTWDELVEHLQF
LLSSYQHVLREHLRSSVIDRKDLIIKRIKPKPQQGDDITVLDVEKQIEAFRSRLVHILGE
PLVPQLQDKVHLLKLLLFYAADLNPDTEPASEH*
|
MSMv4 transcript
|
MEDFIVISDDSGSESSAGTRSGRARRLRRALSRTPGALPRRTVSKGQKLEPIPHRRLRMV
TNTIEENFPLGTVQFLMDFVSPQHYPPREIVAHIVQKILLSGSETVDVLKEAYMLLMKIQ
QLHPANAKTVEWDWKLLTYVMEEEGQTLPGRVLFLRYVVQTLEDDFQQILRRQRQHLQQS
IANTVLSCDKQPHNVRDVIKWLVKAVTENELTPPQDETQTSPRTGVLKTSSDHLSPRPNQ
NKNTNQLIVCQLQRMLSIAVEVDRTPTCSSNKIAEMMFGFVLDIPERSQREMFFTTMESH
LLRCKVLEIIFLHSCETPTRLPLSLAQTLYFLNNSTSLLKCQSDKTQWQTWDELVEHLQF
LLSSYQHVLREHLRSSVIDRKDLIIKRIKPKPQQGDDITVLDVEKQIEAFRSRLVHILGE
PLVPQLQDKVHLLKLLLFYAADLNPDTEPASEH*
|
homology | 100.00 (454 / 454) |
|