| Reports |
| substitution |
| cSNPs | 3 |
| Insertion | 26 |
| Deletion | 25 |
| SNPs |
-1kb
36063401(c.-5257T>A),
36063426(c.-5232A>C),
36063481(c.-5177T>C),
36063705(c.-4953G>T),
36063979(c.-4679A>G),
36064400(c.-4258T>C),
36064582(c.-4076G>A),
36064819(c.-3839G>T),
36065059(c.-3599G>C),
36065200(c.-3458A>T),
36065368(c.-3290G>A),
36065410(c.-3248G>T),
36065453(c.-3205G>A),
36065486(c.-3172C>T),
36065511(c.-3147C>T),
36065513(c.-3145T>C),
36065631(c.-3027C>T),
36065696(c.-2962A>G),
36065753(c.-2905G>A),
36065783(c.-2875G>A),
36065840(c.-2818C>T),
36066002(c.-2656C>T),
36066030(c.-2628A>G),
36066060(c.-2598A>G),
36066092(c.-2566C>A),
36066108(c.-2550G>A),
36066304(c.-2354T>G),
36066309(c.-2349T>C),
36066314(c.-2344C>T),
36066677(c.-1981A>G),
36066763(c.-1895T>C),
36066922(c.-1736A>G),
36066955(c.-1703G>C),
36067212(c.-1446A>C),
36067250(c.-1408C>T),
36067282(c.-1376C>A),
36067442(c.-1216C>A),
36067462(c.-1196G>A),
36067470(c.-1188C>T),
36067501(c.-1157C>G),
36067845(c.-813G>A),
36067854(c.-804G>A),
36067894(c.-764A>T),
36067955(c.-703T>G),
36068196(c.-462C>G),
36068347(c.-311A>G),
5'UTR
CDS
3'UTR
36104301(c.*80C>T),
36104384(c.*163A>C),
36104593(c.*372G>A),
36104594(c.*373A>T),
36104946(c.*725A>C),
36105011(c.*790A>G),
36105095(c.*874T>C),
36105157(c.*936T>C),
36105264(c.*1043G>A),
36105389(c.*1168G>A),
36105442(c.*1221C>T),
36105446(c.*1225T>C),
36105447(c.*1226G>A),
36105590(c.*1369G>A),
36105675(c.*1454G>A),
36105796(c.*1575C>T),
36105883(c.*1662A>G),
36106073(c.*1852G>C),
INTRON
36069473(c.527+289C>T),
36069548(c.527+364C>T),
36069594(c.527+410A>T),
36069905(c.527+721T>A),
36069926(c.527+742A>G),
36070087(c.527+903G>A),
36070166(c.527+982A>T),
36070250(c.527+1066G>T),
36070251(c.527+1067C>A),
36070469(c.527+1285G>A),
36070550(c.527+1366T>C),
36070568(c.527+1384C>T),
36070660(c.527+1476C>T),
36070891(c.527+1707G>A),
36071168(c.527+1984G>A),
36071705(c.527+2521T>C),
36071834(c.527+2650G>A),
36071872(c.527+2688T>C),
36071958(c.527+2774T>C),
36072710(c.527+3526A>G),
36072728(c.527+3544T>C),
36072796(c.527+3612C>T),
36072858(c.527+3674G>C),
36073039(c.527+3855C>T),
36073313(c.527+4129A>T),
36073506(c.527+4322T>C),
36073696(c.527+4512G>A),
36073841(c.527+4657G>A),
36073895(c.527+4711T>C),
36073922(c.527+4738T>C),
36073938(c.527+4754G>A),
36074258(c.527+5074T>C),
36074267(c.527+5083A>G),
36074386(c.527+5202C>G),
36074514(c.527+5330G>A),
36074542(c.527+5358G>T),
36074610(c.527+5426T>C),
36074660(c.527+5476A>G),
36074822(c.527+5638A>C),
36074866(c.527+5682G>A),
36075003(c.527+5819C>T),
36075005(c.527+5821G>T),
36075017(c.527+5833T>C),
36075041(c.527+5857C>T),
36075138(c.527+5954T>C),
36075141(c.527+5957T>C),
36075151(c.527+5967T>A),
36075469(c.527+6285T>C),
36075470(c.527+6286A>C),
36075529(c.527+6345C>T),
36075646(c.527+6462G>A),
36075732(c.527+6548T>A),
36075826(c.527+6642T>C),
36075964(c.527+6780T>C),
36076010(c.527+6826T>C),
36076091(c.527+6907C>T),
36076336(c.527+7152C>T),
36076383(c.527+7199C>A),
36076553(c.527+7369G>A),
36076576(c.527+7392T>G),
36076645(c.527+7461C>T),
36076961(c.527+7777A>G),
36077185(c.527+8001T>G),
36077786(c.527+8602G>A),
36078314(c.527+9130C>A),
36078737(c.527+9553C>T),
36079062(c.527+9878G>A),
36079464(c.527+10280C>T),
36079593(c.527+10409T>G),
36079907(c.527+10723G>A),
36080101(c.527+10917A>G),
36080110(c.527+10926G>A),
36080154(c.527+10970C>T),
36080215(c.527+11031A>G),
36080297(c.527+11113G>A),
36080352(c.527+11168A>G),
36080353(c.527+11169G>A),
36080367(c.527+11183G>A),
36080538(c.527+11354A>G),
36080585(c.527+11401A>T),
36080587(c.527+11403G>A),
36080656(c.527+11472G>C),
36080790(c.527+11606C>T),
36080860(c.527+11676G>T),
36080868(c.527+11684C>A),
36080896(c.527+11712C>T),
36081123(c.527+11939G>A),
36081284(c.527+12100T>C),
36081311(c.527+12127T>C),
36081346(c.527+12162T>C),
36081365(c.527+12181A>G),
36081368(c.527+12184G>A),
36081440(c.527+12256A>T),
36081448(c.527+12264T>C),
36081467(c.527+12283A>G),
36081721(c.527+12537T>C),
36081725(c.527+12541T>C),
36081731(c.527+12547T>C),
36081880(c.527+12696G>A),
36081915(c.527+12731C>G),
36081923(c.527+12739C>T),
36081945(c.527+12761A>G),
36081946(c.527+12762A>G),
36081953(c.527+12769A>G),
36081959(c.527+12775T>C),
36082395(c.527+13211G>A),
36082692(c.527+13508A>C),
36083445(c.527+14261C>G),
36084399(c.527+15215G>A),
36084471(c.527+15287C>G),
36084699(c.527+15515G>C),
36085695(c.527+16511A>G),
36086372(c.528-17141A>C),
36086465(c.528-17048A>G),
36087174(c.528-16339C>T),
36087194(c.528-16319C>T),
36087259(c.528-16254T>G),
36087280(c.528-16233C>T),
36087316(c.528-16197G>A),
36087383(c.528-16130A>G),
36087405(c.528-16108G>A),
36087481(c.528-16032C>T),
36087514(c.528-15999A>G),
36087613(c.528-15900G>C),
36087715(c.528-15798A>G),
36087719(c.528-15794A>G),
36087776(c.528-15737T>C),
36087804(c.528-15709T>C),
36087847(c.528-15666G>A),
36088414(c.528-15099G>A),
36088548(c.528-14965A>G),
36088606(c.528-14907G>C),
36088735(c.528-14778G>C),
36088880(c.528-14633G>A),
36088935(c.528-14578A>G),
36088952(c.528-14561A>T),
36089037(c.528-14476C>T),
36089097(c.528-14416C>T),
36089268(c.528-14245A>G),
36089271(c.528-14242G>A),
36089395(c.528-14118C>T),
36089471(c.528-14042C>A),
36089493(c.528-14020A>C),
36089606(c.528-13907A>T),
36089611(c.528-13902G>C),
36089716(c.528-13797T>C),
36089786(c.528-13727T>C),
36089804(c.528-13709T>C),
36089859(c.528-13654A>C),
36089974(c.528-13539C>T),
36090221(c.528-13292G>A),
36090240(c.528-13273T>C),
36090251(c.528-13262T>C),
36090372(c.528-13141G>T),
36090414(c.528-13099A>C),
36090477(c.528-13036A>G),
36090605(c.528-12908A>G),
36090628(c.528-12885A>G),
36090683(c.528-12830A>G),
36090860(c.528-12653T>G),
36090950(c.528-12563A>G),
36090965(c.528-12548T>C),
36091070(c.528-12443G>T),
36091173(c.528-12340C>T),
36091312(c.528-12201C>T),
36091411(c.528-12102A>G),
36091618(c.528-11895G>A),
36091810(c.528-11703G>A),
36091875(c.528-11638C>T),
36091895(c.528-11618G>A),
36092254(c.528-11259T>C),
36092272(c.528-11241C>G),
36092523(c.528-10990G>A),
36092627(c.528-10886C>T),
36092780(c.528-10733C>A),
36092831(c.528-10682G>A),
36093127(c.528-10386A>G),
36093524(c.528-9989G>A),
36093741(c.528-9772G>A),
36093785(c.528-9728G>A),
36093815(c.528-9698C>T),
36093863(c.528-9650A>G),
36093931(c.528-9582G>A),
36093953(c.528-9560A>G),
36093972(c.528-9541C>T),
36094122(c.528-9391C>T),
36094395(c.528-9118G>T),
36094428(c.528-9085G>C),
36094589(c.528-8924T>A),
36095205(c.528-8308C>T),
36095753(c.528-7760T>C),
36095929(c.528-7584T>C),
36096351(c.528-7162G>A),
36096637(c.528-6876T>C),
36096641(c.528-6872C>T),
36096719(c.528-6794T>C),
36096754(c.528-6759T>C),
36096787(c.528-6726A>G),
36096793(c.528-6720A>G),
36097258(c.528-6255C>T),
36097264(c.528-6249T>C),
36097272(c.528-6241A>G),
36097937(c.528-5576T>A),
36098030(c.528-5483C>A),
36098097(c.528-5416G>T),
36098098(c.528-5415A>G),
36098110(c.528-5403C>G),
36098193(c.528-5320C>T),
36098248(c.528-5265G>T),
36098350(c.528-5163A>G),
36098735(c.528-4778C>T),
36098818(c.528-4695T>C),
36098940(c.528-4573G>A),
36098970(c.528-4543A>G),
36098976(c.528-4537A>G),
36099036(c.528-4477C>A),
36099063(c.528-4450A>T),
36099160(c.528-4353T>C),
36099164(c.528-4349G>T),
36099212(c.528-4301G>T),
36099258(c.528-4255G>A),
36099292(c.528-4221C>T),
36099293(c.528-4220C>G),
36099314(c.528-4199A>G),
36099393(c.528-4120G>A),
36099445(c.528-4068A>G),
36099533(c.528-3980C>A),
36099696(c.528-3817C>A),
36099812(c.528-3701G>A),
36099836(c.528-3677C>T),
36099976(c.528-3537G>C),
36099984(c.528-3529C>T),
36100000(c.528-3513C>T),
36100042(c.528-3471G>A),
36100064(c.528-3449C>T),
36100190(c.528-3323T>C),
36100283(c.528-3230T>C),
36100432(c.528-3081G>T),
36100602(c.528-2911T>C),
36100603(c.528-2910G>A),
36100645(c.528-2868A>G),
36101141(c.528-2372A>G),
36101161(c.528-2352T>G),
36101216(c.528-2297C>T),
36101462(c.528-2051T>A),
36101713(c.528-1800T>C),
36101920(c.528-1593A>G),
36102223(c.528-1290A>G),
36102275(c.528-1238A>G),
36102361(c.528-1152A>C),
36102451(c.528-1062C>T),
36102462(c.528-1051C>T),
36102605(c.528-908C>T),
36102668(c.528-845C>A),
36102669(c.528-844C>A),
36102711(c.528-802A>T),
36102748(c.528-765C>A),
36102770(c.528-743C>T),
36102993(c.528-520A>G),
36103320(c.528-193A>C),
36103323(c.528-190T>A),
36103442(c.528-71G>A),
+1kb
36106613(c.*2392G>A),
36106985(c.*2764G>A),
36106994(c.*2773A>C),
36107066(c.*2845G>A),
36107288(c.*3067C>A),
36108637(c.*4416A>G),
36108649(c.*4428T>G),
36108651(c.*4430C>T),
36108985(c.*4764A>C),
36109000(c.*4779C>G),
36109001(c.*4780A>C),
36109002(c.*4781G>A),
36109006(c.*4785A>G),
36109034(c.*4813A>C),
36109047(c.*4826T>G),
36109224(c.*5003G>A),
36109299(c.*5078G>A),
36109305(c.*5084C>T),
36109338(c.*5117T>C),
36109558(c.*5337G>A),
36109705(c.*5484G>C),
36109707(c.*5486T>C),
36110519(c.*6298G>A),
36110695(c.*6474T>C),
36111029(c.*6808C>T),
36111039(c.*6818C>T),
36111058(c.*6837C>T),
36111153(c.*6932A>G),
36111165(c.*6944A>G),
|
| Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
36072689 (c.527+3513_527+3514dupTG),
36074439 (c.527+5256dupT),
36074809 (c.527+5625_527+5626insCAG),
36074843 (c.527+5666dupA),
36074853 (c.527+5669_527+5670insA),
36075921 (c.527+6737_527+6738insGGGAGC),
36081596 (c.527+12413_527+12415dupTGA),
36082524 (c.527+13341_527+13342insTA),
36086879 (c.528-16634_528-16633dupAA),
36088081 (c.528-15427_528-15426insATGTGC),
36088347 (c.528-15161dupC),
36089060 (c.528-14453_528-14452insTCA),
36089173 (c.528-14340_528-14339insACAC),
36092086 (c.528-11426_528-11425insGCA),
36092372 (c.528-11141_528-11140insT),
36095240 (c.528-8272_528-8271insGA),
36099161 (c.528-4352_528-4351insCC),
36099179 (c.528-4334_528-4333insT),
36099633 (c.528-3876_528-3873dupGTAA),
36099816 (c.528-3696dupC),
36101689 (c.528-1813dupT),
+1kb
|
| Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
36069215 (c.527+42_527+46delGGGGG),
36071218 (c.527+2044_527+2045delCC),
36072391 (c.527+3210delA),
36073668 (c.527+4489_527+4492delATCT),
36076042 (c.527+6860_527+6862delACA),
36076970 (c.527+7789delA),
36081808 (c.527+12625delG),
36082741 (c.527+13560delC),
36084857 (c.527+15678delT),
36085093 (c.527+15910delG),
36086835 (c.528-16677delA),
36086981 (c.528-16522_528-16521delGG),
36090799 (c.528-12711delG),
36094719 (c.528-8757_528-8754delGTGT),
36096974 (c.528-6538_528-6537delGC),
36100459 (c.528-3053_528-3044delCCTTCACACC),
36101549 (c.528-1960_528-1959delCG),
36103277 (c.528-232_528-227delCCACCC),
+1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 3 |
| non-synonymous num | 0 |
| synonymous substitutions |
36103537 (p.Leu184Leu),
36103807 (p.Ala274Ala),
36104185 (p.Thr400Thr),
|
| non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000088174)
|
MRRRRAGGRTMVERASKFVLVVAGSACFMLILYQYAGPGLSLGAPGGRVPPDDLDLFPTP
DPHYEKKYYFPVRELERSLRFDMKGDDVIVFLHIQKTGGTTFGRHLVQNVRLEVPCDCRP
GQKKCTCYRPNRRETWLFSRFSTGWSCGLHADWTELTNCVPGVLDRRDPAGLRSPRKFYY
ITLLRDPVSRYLSEWRHVQRGATWKTSLHMCDGRTPTPEELPPCYEGTDWSGCTLQEFMD
CPYNLANNRQVRMLADLSLVGCYNLSFIPESKRAQLLLESAKKNLRGMAFFGLTEFQRKT
QYLFERTFNLKFIRPFMQYNSTRAGGVEVDEDTIRHIEELNDLDMQLYDYAKDLFQQRYQ
YKRQLERREQRLRNREERLLHRSKEALPREDPEEPGRVPTEDYMSHIIEKW*
|
|
MSMv4 transcript
|
MRRRRAGGRTMVERASKFVLVVAGSACFMLILYQYAGPGLSLGAPGGRVPPDDLDLFPTP
DPHYEKKYYFPVRELERSLRFDMKGDDVIVFLHIQKTGGTTFGRHLVQNVRLEVPCDCRP
GQKKCTCYRPNRRETWLFSRFSTGWSCGLHADWTELTNCVPGVLDRRDPAGLRSPRKFYY
ITLLRDPVSRYLSEWRHVQRGATWKTSLHMCDGRTPTPEELPPCYEGTDWSGCTLQEFMD
CPYNLANNRQVRMLADLSLVGCYNLSFIPESKRAQLLLESAKKNLRGMAFFGLTEFQRKT
QYLFERTFNLKFIRPFMQYNSTRAGGVEVDEDTIRHIEELNDLDMQLYDYAKDLFQQRYQ
YKRQLERREQRLRNREERLLHRSKEALPREDPEEPGRVPTEDYMSHIIEKW*
|
| homology | 100.00 (412 / 412) |
|