| Reports |
| substitution |
| cSNPs | 8 |
| Insertion | 44 |
| Deletion | 40 |
| SNPs |
+1kb
13660589(c.-139G>C),
13660602(c.-152G>A),
13660868(c.-418A>T),
13661340(c.-890G>A),
13661586(c.-1136A>C),
13661655(c.-1205C>G),
13661660(c.-1210C>T),
13661675(c.-1225G>A),
13661745(c.-1295G>A),
13661764(c.-1314G>C),
13661791(c.-1341C>G),
13661816(c.-1366A>C),
13661967(c.-1517G>T),
13661984(c.-1534T>C),
13661987(c.-1537T>A),
13661998(c.-1548T>C),
13662256(c.-1806G>C),
13662324(c.-1874T>C),
13662430(c.-1980A>G),
13662446(c.-1996C>T),
13662476(c.-2026C>T),
13662555(c.-2105T>C),
13662607(c.-2157T>C),
13662627(c.-2177T>C),
13662679(c.-2229C>T),
13662718(c.-2268A>G),
13662736(c.-2286G>T),
13662775(c.-2325G>C),
13662780(c.-2330T>C),
13662781(c.-2331A>G),
13662832(c.-2382G>A),
13662939(c.-2489G>A),
13662951(c.-2501C>T),
13662963(c.-2513C>A),
13663006(c.-2556A>C),
13663010(c.-2560C>T),
13663109(c.-2659A>G),
13663227(c.-2777C>T),
13663373(c.-2923T>G),
13663403(c.-2953T>C),
13663519(c.-3069C>T),
13663598(c.-3148C>T),
13663622(c.-3172C>A),
13663899(c.-3449G>A),
13663945(c.-3495G>A),
13663986(c.-3536C>G),
13664013(c.-3563G>C),
13664529(c.-4079A>C),
13664801(c.-4351A>G),
13665134(c.-4684G>A),
13665203(c.-4753A>G),
13665212(c.-4762C>T),
13665301(c.-4851G>T),
5'UTR
CDS
3'UTR
13623448(c.*3413A>T),
13623484(c.*3377G>A),
13623546(c.*3315C>T),
13623584(c.*3277A>G),
13623701(c.*3160G>A),
13623851(c.*3010G>A),
13623867(c.*2994A>G),
13623985(c.*2876T>C),
13623998(c.*2863C>T),
13624026(c.*2835A>T),
13624073(c.*2788T>C),
13624146(c.*2715C>A),
13624193(c.*2668T>G),
13624204(c.*2657T>G),
13624252(c.*2609A>G),
13624334(c.*2527G>A),
13624386(c.*2475T>G),
13624416(c.*2445G>A),
13624499(c.*2362A>T),
13624535(c.*2326G>C),
13624575(c.*2286A>G),
13624644(c.*2217A>G),
13624942(c.*1919A>G),
13624974(c.*1887C>T),
13625022(c.*1839G>A),
13625207(c.*1654A>T),
13625706(c.*1155C>T),
13625889(c.*972T>G),
13625915(c.*946A>G),
13626367(c.*494A>T),
13626732(c.*129G>T),
INTRON
13627121(c.824-217G>A),
13627234(c.823+122A>T),
13627245(c.823+111C>T),
13627473(c.742-36A>C),
13627491(c.742-54A>G),
13627559(c.742-122A>G),
13627574(c.742-137C>T),
13627596(c.742-159C>T),
13627603(c.742-166G>A),
13627618(c.742-181T>C),
13627741(c.742-304G>A),
13627769(c.742-332C>A),
13627864(c.742-427A>G),
13627942(c.742-505C>T),
13627973(c.742-536A>G),
13627993(c.742-556G>C),
13628007(c.742-570T>C),
13628076(c.742-639C>T),
13628190(c.742-753G>A),
13628286(c.742-849A>G),
13628292(c.742-855A>G),
13628301(c.742-864G>C),
13628349(c.742-912T>C),
13628362(c.742-925A>T),
13628387(c.742-950C>G),
13628439(c.742-1002G>A),
13628440(c.742-1003T>C),
13628454(c.742-1017C>T),
13628499(c.742-1062C>T),
13628695(c.742-1258A>G),
13628782(c.741+1283G>A),
13628805(c.741+1260G>A),
13628852(c.741+1213A>G),
13629105(c.741+960C>G),
13629113(c.741+952T>C),
13629423(c.741+642A>G),
13629551(c.741+514G>T),
13629556(c.741+509G>T),
13629598(c.741+467A>G),
13629609(c.741+456A>C),
13629614(c.741+451C>T),
13629636(c.741+429C>T),
13629743(c.741+322A>C),
13629788(c.741+277T>A),
13629854(c.741+211A>G),
13629872(c.741+193A>G),
13630228(c.593-15T>A),
13630373(c.593-160G>A),
13630420(c.593-207T>C),
13630472(c.593-259C>A),
13630479(c.593-266A>G),
13630529(c.593-316G>A),
13630602(c.593-389A>G),
13630644(c.593-431A>G),
13630646(c.593-433A>G),
13630990(c.593-777G>T),
13631133(c.593-920T>C),
13631168(c.593-955G>A),
13631207(c.593-994A>C),
13631213(c.593-1000C>T),
13631349(c.593-1136T>C),
13631352(c.593-1139A>G),
13631368(c.593-1155C>A),
13631369(c.593-1156T>G),
13631372(c.593-1159A>T),
13631576(c.593-1363T>G),
13631735(c.593-1522T>C),
13631965(c.593-1752C>G),
13632273(c.593-2060G>A),
13632395(c.593-2182C>A),
13632474(c.593-2261A>G),
13632582(c.593-2369A>C),
13632623(c.593-2410C>T),
13632754(c.593-2541A>G),
13633721(c.593-3508G>A),
13633776(c.593-3563A>G),
13633927(c.593-3714T>G),
13633932(c.593-3719G>T),
13634050(c.593-3837A>G),
13634119(c.593-3906G>A),
13634157(c.593-3944A>G),
13634159(c.593-3946T>A),
13634181(c.593-3968T>C),
13634233(c.592+3998T>C),
13634421(c.592+3810T>G),
13634424(c.592+3807T>G),
13634444(c.592+3787G>C),
13634445(c.592+3786T>G),
13634654(c.592+3577G>A),
13634745(c.592+3486T>G),
13634795(c.592+3436T>C),
13634807(c.592+3424G>A),
13634811(c.592+3420A>G),
13634866(c.592+3365A>T),
13635269(c.592+2962T>C),
13635360(c.592+2871C>G),
13635456(c.592+2775A>G),
13635495(c.592+2736T>C),
13635497(c.592+2734A>C),
13635718(c.592+2513T>G),
13635735(c.592+2496T>G),
13635766(c.592+2465G>A),
13635835(c.592+2396T>G),
13635935(c.592+2296T>C),
13635946(c.592+2285T>C),
13635948(c.592+2283T>G),
13636025(c.592+2206A>C),
13636069(c.592+2162G>C),
13636108(c.592+2123C>T),
13636278(c.592+1953C>G),
13636456(c.592+1775G>T),
13636526(c.592+1705T>C),
13636583(c.592+1648C>A),
13636952(c.592+1279C>T),
13637024(c.592+1207T>C),
13637255(c.592+976G>C),
13638140(c.592+91C>G),
13638452(c.414-43G>A),
13638635(c.414-226G>A),
13639242(c.414-833T>G),
13639615(c.414-1206G>A),
13639641(c.414-1232T>A),
13640013(c.414-1604A>G),
13640569(c.414-2160G>T),
13640664(c.414-2255A>G),
13641172(c.414-2763G>A),
13641208(c.414-2799G>A),
13641260(c.414-2851A>G),
13641290(c.414-2881G>A),
13641889(c.414-3480G>A),
13641933(c.414-3524C>T),
13641939(c.414-3530T>C),
13642082(c.414-3673G>A),
13642154(c.414-3745A>T),
13643153(c.413+4232A>G),
13643155(c.413+4230A>G),
13643160(c.413+4225C>A),
13643165(c.413+4220C>T),
13643184(c.413+4201G>T),
13643310(c.413+4075G>T),
13643311(c.413+4074C>A),
13643324(c.413+4061A>G),
13643335(c.413+4050C>G),
13643381(c.413+4004T>C),
13643479(c.413+3906G>T),
13643599(c.413+3786T>C),
13643852(c.413+3533A>T),
13644057(c.413+3328C>T),
13644127(c.413+3258T>C),
13644237(c.413+3148T>G),
13644363(c.413+3022G>A),
13644727(c.413+2658G>A),
13644729(c.413+2656G>T),
13644736(c.413+2649G>A),
13644802(c.413+2583A>G),
13644814(c.413+2571C>T),
13644831(c.413+2554G>A),
13644895(c.413+2490T>C),
13645171(c.413+2214C>G),
13645408(c.413+1977G>T),
13645557(c.413+1828G>A),
13645641(c.413+1744A>G),
13645926(c.413+1459T>C),
13645927(c.413+1458G>A),
13645979(c.413+1406T>C),
13646226(c.413+1159T>G),
13646399(c.413+986C>T),
13646407(c.413+978C>T),
13646522(c.413+863A>T),
13646526(c.413+859T>C),
13646639(c.413+746T>G),
13646654(c.413+731G>A),
13646680(c.413+705C>T),
13646768(c.413+617G>A),
13646806(c.413+579C>T),
13646822(c.413+563C>T),
13646826(c.413+559G>C),
13646856(c.413+529G>T),
13647049(c.413+336T>C),
13647058(c.413+327T>C),
13647237(c.413+148C>T),
13647251(c.413+134C>A),
13647270(c.413+115A>G),
13647302(c.413+83G>A),
13647379(c.413+6T>G),
13647601(c.287-90A>G),
13647738(c.287-227T>G),
13647777(c.287-266G>A),
13647817(c.287-306C>A),
13647863(c.287-352A>T),
13647889(c.287-378T>C),
13648010(c.287-499C>G),
13649278(c.286+1443T>C),
13649443(c.286+1278C>T),
13649555(c.286+1166G>A),
13649593(c.286+1128C>T),
13649632(c.286+1089G>C),
13649678(c.286+1043C>A),
13649688(c.286+1033G>T),
13649699(c.286+1022A>G),
13649727(c.286+994A>G),
13649939(c.286+782A>G),
13649992(c.286+729G>A),
13650052(c.286+669T>G),
13650175(c.286+546A>G),
13650193(c.286+528A>T),
13650233(c.286+488C>A),
13650447(c.286+274A>G),
13650510(c.286+211G>A),
13651107(c.123-223C>T),
13651113(c.123-229G>C),
13651152(c.123-268A>T),
13651185(c.123-301A>T),
13651188(c.123-304G>A),
13651222(c.123-338T>C),
13651365(c.123-481A>G),
13651505(c.123-621G>A),
13651610(c.123-726G>A),
13651613(c.123-729C>T),
13651647(c.123-763C>T),
13651719(c.123-835C>T),
13651795(c.123-911T>C),
13651825(c.123-941C>T),
13651879(c.123-995G>A),
13651966(c.123-1082G>T),
13651990(c.123-1106T>C),
13651991(c.123-1107A>G),
13652641(c.123-1757G>A),
13653440(c.123-2556G>T),
13653521(c.123-2637T>G),
13653590(c.123-2706C>T),
13653698(c.123-2814T>G),
13653699(c.123-2815C>G),
13653862(c.123-2978C>G),
13654190(c.123-3306G>A),
13654192(c.123-3308A>G),
13654537(c.123-3653G>A),
13654571(c.123-3687A>G),
13654578(c.123-3694G>C),
13654579(c.123-3695A>C),
13654584(c.123-3700C>T),
13654608(c.123-3724T>G),
13655533(c.123-4649G>A),
13655568(c.123-4684G>A),
13655662(c.122+4667G>A),
13655664(c.122+4665A>G),
13655822(c.122+4507C>G),
13655823(c.122+4506C>T),
13655834(c.122+4495C>G),
13655894(c.122+4435G>A),
13655895(c.122+4434T>C),
13655988(c.122+4341A>C),
13656229(c.122+4100G>A),
13656247(c.122+4082G>A),
13656276(c.122+4053A>G),
13656356(c.122+3973C>G),
13656529(c.122+3800T>C),
13656900(c.122+3429T>C),
13656913(c.122+3416T>G),
13656918(c.122+3411C>T),
13656925(c.122+3404G>A),
13656935(c.122+3394C>T),
13657038(c.122+3291T>C),
13657043(c.122+3286T>G),
13657051(c.122+3278A>G),
13657109(c.122+3220A>T),
13657185(c.122+3144G>A),
13657233(c.122+3096C>A),
13657270(c.122+3059G>A),
13657952(c.122+2377T>C),
13658016(c.122+2313T>G),
13658468(c.122+1861T>C),
13658596(c.122+1733C>T),
13658741(c.122+1588C>T),
13658745(c.122+1584A>G),
13658753(c.122+1576C>T),
13658794(c.122+1535G>C),
13658932(c.122+1397C>T),
13658960(c.122+1369C>T),
13659273(c.122+1056G>T),
13659333(c.122+996G>A),
13659379(c.122+950A>C),
13659413(c.122+916C>A),
13659588(c.122+741G>A),
13659614(c.122+715C>T),
13659691(c.122+638T>C),
13659695(c.122+634G>A),
13659712(c.122+617G>T),
13660084(c.122+245G>A),
-1kb
13618337(c.*8524T>C),
13618502(c.*8359G>A),
13618533(c.*8328A>G),
13618542(c.*8319T>C),
13618640(c.*8221G>A),
13618691(c.*8170C>T),
13618753(c.*8108G>A),
13618759(c.*8102G>T),
13618789(c.*8072A>G),
13618852(c.*8009G>A),
13618863(c.*7998C>T),
13618878(c.*7983G>A),
13619081(c.*7780A>C),
13619207(c.*7654T>C),
13619209(c.*7652T>G),
13619320(c.*7541A>G),
13619335(c.*7526A>G),
13619403(c.*7458G>A),
13619407(c.*7454A>G),
13619408(c.*7453C>T),
13619424(c.*7437T>C),
13619490(c.*7371A>G),
13619491(c.*7370C>T),
13619527(c.*7334T>C),
13619528(c.*7333A>G),
13619550(c.*7311T>C),
13619634(c.*7227C>G),
13619787(c.*7074C>T),
13619791(c.*7070C>T),
13619814(c.*7047A>G),
13619832(c.*7029T>C),
13619897(c.*6964T>C),
13620167(c.*6694T>C),
13620256(c.*6605T>G),
13620340(c.*6521G>A),
13620442(c.*6419C>T),
13620455(c.*6406A>G),
13620466(c.*6395C>T),
13620512(c.*6349A>G),
13620553(c.*6308C>T),
13620723(c.*6138G>A),
13620728(c.*6133C>A),
13621743(c.*5118G>A),
13621818(c.*5043G>A),
13622109(c.*4752G>A),
13622338(c.*4523C>G),
13622775(c.*4086C>T),
13622801(c.*4060T>C),
13622824(c.*4037A>C),
13622825(c.*4036C>T),
13623055(c.*3806G>A),
13623067(c.*3794A>G),
13623267(c.*3594C>G),
|
| Insertions |
+1kb
5'UTR
CDS
3'UTR
INTRON
13627213 (c.823+141_823+142dupGG),
13628896 (c.741+1168_741+1169insTTA),
13629009 (c.741+1055dupA),
13631766 (c.593-1557_593-1554dupATTA),
13632671 (c.593-2459_593-2458insCG),
13633512 (c.593-3300dupT),
13633957 (c.593-3745_593-3744insTGA),
13634316 (c.592+3913_592+3914dupAA),
13636046 (c.592+2184_592+2185insATA),
13636164 (c.592+2066dupT),
13640241 (c.414-1833dupA),
13640801 (c.414-2393dupT),
13643742 (c.413+3642_413+3643insAAAG),
13646621 (c.413+763_413+764insGCC),
13647234 (c.413+150_413+151insA),
13647276 (c.413+108_413+109insCATA),
13647777 (c.287-267dupC),
13647947 (c.287-437_287-436insTT),
13648165 (c.287-655_287-654insGG),
13649406 (c.286+1314dupT),
13651077 (c.123-194dupA),
13651223 (c.123-340dupT),
13655232 (c.123-4349dupT),
13655824 (c.122+4504_122+4505insT),
13656532 (c.122+3796dupT),
13658607 (c.122+1721_122+1722insGATTT),
13659005 (c.122+1322_122+1323dupTG),
13659341 (c.122+987dupA),
-1kb
|
| Deletions |
+1kb
5'UTR
CDS
3'UTR
INTRON
13629734 (c.741+330delG),
13629945 (c.741+119delC),
13629967 (c.741+96_741+97delTT),
13630808 (c.593-597_593-596delGT),
13630936 (c.593-724delT),
13631283 (c.593-1072_593-1071delTT),
13632162 (c.593-1950delT),
13632785 (c.593-2576_593-2573delTGTA),
13634021 (c.593-3809delT),
13634665 (c.592+3565delT),
13634913 (c.592+3316_592+3317delGA),
13637331 (c.592+896_592+899delTATA),
13637794 (c.592+436delA),
13640066 (c.414-1658delA),
13643530 (c.413+3853_413+3854delAA),
13643649 (c.413+3735delC),
13643666 (c.413+3715_413+3718delGCAT),
13646326 (c.413+1054_413+1058delTAGTT),
13648134 (c.287-627_287-624delCCAG),
13648141 (c.287-634_287-631delCAGC),
13648366 (c.287-856delA),
13650432 (c.286+287_286+288delCT),
13652005 (c.123-1127_123-1122delCTCCTC),
13652015 (c.123-1134_123-1132delGCT),
13652027 (c.123-1146_123-1144delGCT),
13652800 (c.123-1917delC),
-1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 7 |
| non-synonymous num | 1 |
| synonymous substitutions |
13626870 (p.Ala286Ala),
13627422 (p.Leu253Leu),
13630101 (p.Ser235Ser),
13638379 (p.Asp148Asp),
13647474 (p.Pro108Pro),
13650749 (p.Ile86Ile),
13650863 (p.Gly48Gly),
|
| non-synonymous substitutions |
13627415 (p.Lys255Arg),
|
B6 transcript
(ENSMUST00000027071)
|
MAAALQRIEQLSSRVVRVLGCNPGPMTLQGTNTYLVGTGSRRILIDTGEPSVPEYISCLK
QALVEFDTAIQEILVTHWHSDHSGGIVDICKNINNDTTYCIKKLRRNPQREEIIGNGEQQ
FIYIENGDVVKTEGATLRVLYTPGHTDDHMALLLEEENAIFSGDCILGEGTTIFEDLYDY
MNSLNNLLKIKANIIYPGHGPVIHNAEAKILEYISHRNNREEQIISLFRDNFEKSFTVTE
LRTMIYKDVPENLHKMAEHNLLLHLRKLEKDGKIFYTTTPVKKWKAVL*
|
|
MSMv4 transcript
|
MAAALQRIEQLSSRVVRVLGCNPGPMTLQGTNTYLVGTGSRRILIDTGEPSVPEYISCLK
QALVEFDTAIQEILVTHWHSDHSGGIVDICKNINNDTTYCIKKLRRNPQREEIIGNGEQQ
FIYIENGDVVKTEGATLRVLYTPGHTDDHMALLLEEENAIFSGDCILGEGTTIFEDLYDY
MNSLNNLLKIKANIIYPGHGPVIHNAEAKILEYISHRNNREEQIISLFRDNFEKSFTVTE
LRTMIYKDVPENLHRMAEHNLLLHLRKLEKDGKIFYTTTPVKKWKAVL*
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| homology | 99.65 (289 / 289) |
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