| Reports |
| substitution |
| cSNPs | 17 |
| Insertion | 20 |
| Deletion | 34 |
| SNPs |
+1kb
97768020(c.-422A>G),
97768109(c.-511A>C),
97768158(c.-560C>T),
97768190(c.-592C>G),
97768428(c.-830G>A),
97768519(c.-921A>G),
97768758(c.-1160A>G),
97768910(c.-1312C>T),
97769042(c.-1444C>T),
97769074(c.-1476C>T),
97769276(c.-1678C>T),
97769388(c.-1790T>G),
97769660(c.-2062T>C),
97769782(c.-2184A>T),
97769902(c.-2304C>G),
97770262(c.-2664G>A),
97770384(c.-2786C>T),
97770385(c.-2787T>A),
97770395(c.-2797T>C),
97770464(c.-2866T>C),
97770477(c.-2879A>G),
97770831(c.-3233A>G),
97770834(c.-3236T>C),
97770837(c.-3239C>T),
97770871(c.-3273C>T),
97770928(c.-3330A>G),
97770963(c.-3365T>C),
97771232(c.-3634A>G),
97771233(c.-3635G>T),
97771237(c.-3639C>T),
97771283(c.-3685C>T),
97771316(c.-3718A>G),
97771319(c.-3721A>G),
97771387(c.-3789A>G),
97771514(c.-3916G>C),
97771668(c.-4070C>T),
97771695(c.-4097C>T),
97771697(c.-4099C>T),
97771832(c.-4234G>T),
97771869(c.-4271C>T),
97771872(c.-4274G>A),
97771895(c.-4297T>A),
97771918(c.-4320T>C),
97772004(c.-4406C>T),
97772190(c.-4592C>T),
97772289(c.-4691C>T),
97772425(c.-4827C>T),
97772457(c.-4859A>T),
97772476(c.-4878T>C),
97772538(c.-4940T>C),
97772705(c.-5107A>G),
5'UTR
CDS
97741352(c.3276T>C),
97741432(c.3196G>C),
97742497(c.3174G>A),
97743552(c.2865G>A),
97743567(c.2850G>A),
97743569(c.2848A>G),
97743600(c.2817G>T),
97747771(c.2634C>T),
97747801(c.2604G>T),
97747833(c.2572A>G),
97753040(c.2250A>G),
97753106(c.2184G>A),
97755514(c.1767C>T),
97756968(c.1599G>T),
97757550(c.1359T>A),
97766941(c.658G>T),
97767188(c.411A>G),
3'UTR
97738960(c.*2311T>G),
97739132(c.*2139C>T),
97739389(c.*1882G>A),
97739400(c.*1871A>G),
97739918(c.*1353A>G),
97740121(c.*1150T>C),
97740475(c.*796T>A),
97740757(c.*514C>T),
97740822(c.*449A>G),
97740869(c.*402C>T),
97741088(c.*183T>C),
97741102(c.*169A>G),
97741108(c.*163G>A),
97741122(c.*149C>T),
INTRON
97741486(c.3183-41G>A),
97741813(c.3183-368C>T),
97741823(c.3183-378A>G),
97741845(c.3183-400T>G),
97742017(c.3182+472C>T),
97742042(c.3182+447C>A),
97742142(c.3182+347G>A),
97742163(c.3182+326A>G),
97742172(c.3182+317T>C),
97742175(c.3182+314T>C),
97742235(c.3182+254A>G),
97742257(c.3182+232A>G),
97742311(c.3182+178T>C),
97742373(c.3182+116T>C),
97742396(c.3182+93G>A),
97742412(c.3182+77T>C),
97742646(c.3070-45T>C),
97742680(c.3070-79C>T),
97742733(c.3070-132G>A),
97742740(c.3070-139G>T),
97742837(c.3070-236T>G),
97742910(c.3069+255A>G),
97742948(c.3069+217G>A),
97742962(c.3069+203G>A),
97742964(c.3069+201G>A),
97742984(c.3069+181A>T),
97743067(c.3069+98G>T),
97743307(c.2932-5T>C),
97743349(c.2932-47C>T),
97743430(c.2931+56G>A),
97743454(c.2931+32C>T),
97743482(c.2931+4C>T),
97743622(c.2815-20A>G),
97744082(c.2815-480T>C),
97744098(c.2815-496A>G),
97744130(c.2815-528A>G),
97744174(c.2815-572C>T),
97744217(c.2815-615A>G),
97744249(c.2815-647A>G),
97744256(c.2815-654G>A),
97744270(c.2815-668T>C),
97744288(c.2815-686G>A),
97744300(c.2815-698C>T),
97744302(c.2815-700T>C),
97744320(c.2815-718G>A),
97744345(c.2815-743A>G),
97744352(c.2815-750G>A),
97744383(c.2815-781A>C),
97744384(c.2815-782A>G),
97744398(c.2815-796C>T),
97744416(c.2815-814G>A),
97744430(c.2815-828C>T),
97744546(c.2815-944C>T),
97744618(c.2815-1016A>C),
97744619(c.2815-1017A>G),
97744678(c.2815-1076G>A),
97744680(c.2815-1078T>C),
97744690(c.2815-1088C>G),
97744830(c.2815-1228G>A),
97744903(c.2815-1301C>A),
97744925(c.2815-1323C>T),
97744927(c.2815-1325G>A),
97745385(c.2814+1287A>G),
97745430(c.2814+1242A>T),
97745461(c.2814+1211A>C),
97745558(c.2814+1114A>G),
97745613(c.2814+1059T>C),
97745788(c.2814+884T>C),
97745793(c.2814+879A>G),
97745794(c.2814+878T>C),
97745806(c.2814+866A>T),
97745960(c.2814+712G>A),
97746138(c.2814+534C>T),
97746183(c.2814+489C>T),
97746246(c.2814+426T>C),
97746345(c.2814+327G>A),
97746521(c.2814+151G>T),
97746559(c.2814+113G>T),
97746580(c.2814+92C>T),
97746794(c.2723-31G>A),
97746928(c.2723-165G>A),
97746944(c.2723-181T>C),
97746949(c.2723-186G>C),
97747217(c.2722+300C>A),
97747379(c.2722+138T>C),
97747404(c.2722+113C>T),
97747735(c.2640+30G>A),
97747744(c.2640+21C>G),
97747980(c.2470-45G>A),
97748156(c.2470-221G>C),
97748212(c.2470-277C>T),
97748269(c.2470-334C>T),
97748309(c.2470-374T>G),
97748314(c.2470-379C>T),
97748409(c.2470-474T>C),
97748519(c.2470-584T>C),
97748524(c.2470-589A>G),
97748578(c.2470-643C>G),
97748604(c.2470-669T>C),
97748661(c.2470-726C>T),
97748729(c.2470-794A>G),
97748787(c.2470-852G>A),
97748791(c.2470-856G>A),
97748936(c.2470-1001C>A),
97748986(c.2470-1051G>A),
97749000(c.2470-1065G>C),
97749042(c.2470-1107G>A),
97749083(c.2470-1148C>A),
97749152(c.2470-1217C>T),
97749361(c.2470-1426G>A),
97749378(c.2470-1443G>A),
97749383(c.2470-1448G>A),
97749390(c.2470-1455G>A),
97749402(c.2470-1467A>G),
97749547(c.2470-1612G>A),
97749829(c.2470-1894G>A),
97749835(c.2470-1900G>A),
97749861(c.2470-1926G>C),
97749922(c.2469+1887C>T),
97749933(c.2469+1876G>C),
97750162(c.2469+1647T>C),
97750246(c.2469+1563C>A),
97750249(c.2469+1560G>A),
97750268(c.2469+1541G>A),
97750274(c.2469+1535T>C),
97750278(c.2469+1531G>T),
97750283(c.2469+1526G>C),
97750318(c.2469+1491T>C),
97750332(c.2469+1477A>G),
97750393(c.2469+1416T>A),
97750499(c.2469+1310A>G),
97750605(c.2469+1204T>C),
97750720(c.2469+1089T>C),
97750763(c.2469+1046C>G),
97750785(c.2469+1024C>T),
97750819(c.2469+990T>G),
97750913(c.2469+896T>C),
97750948(c.2469+861A>T),
97750984(c.2469+825A>G),
97750996(c.2469+813A>T),
97751000(c.2469+809C>A),
97751065(c.2469+744T>C),
97751126(c.2469+683G>T),
97751246(c.2469+563A>G),
97751334(c.2469+475A>G),
97751345(c.2469+464A>G),
97751388(c.2469+421A>G),
97751424(c.2469+385C>T),
97751435(c.2469+374C>G),
97751446(c.2469+363A>C),
97751464(c.2469+345A>G),
97751659(c.2469+150T>A),
97751691(c.2469+118C>T),
97751693(c.2469+116T>A),
97752102(c.2275-99T>A),
97752122(c.2275-119G>A),
97752185(c.2275-182A>G),
97752250(c.2275-247A>G),
97752344(c.2275-341G>A),
97752541(c.2274+475T>A),
97752574(c.2274+442G>T),
97752584(c.2274+432T>C),
97752604(c.2274+412C>G),
97752619(c.2274+397T>C),
97752665(c.2274+351T>C),
97752688(c.2274+328C>G),
97752881(c.2274+135C>T),
97753212(c.2095-17T>C),
97753305(c.2095-110C>T),
97753333(c.2095-138A>G),
97753341(c.2095-146G>C),
97753478(c.2095-283C>T),
97753560(c.2095-365G>A),
97753748(c.2094+378A>G),
97753787(c.2094+339T>C),
97753812(c.2094+314G>A),
97753979(c.2094+147C>T),
97754044(c.2094+82G>A),
97754081(c.2094+45A>G),
97754403(c.1956+29G>A),
97754421(c.1956+11C>A),
97754701(c.1843-156G>A),
97754821(c.1843-276C>T),
97754862(c.1843-317T>A),
97754890(c.1843-345T>C),
97754898(c.1843-353T>C),
97754903(c.1843-358G>A),
97755029(c.1842+410T>C),
97755104(c.1842+335A>G),
97755155(c.1842+284A>C),
97755161(c.1842+278T>A),
97755186(c.1842+253A>C),
97755249(c.1842+190A>C),
97755290(c.1842+149G>A),
97755375(c.1842+64C>T),
97755382(c.1842+57C>A),
97755614(c.1684-17C>T),
97755680(c.1684-83A>C),
97755749(c.1684-152C>T),
97755794(c.1684-197C>T),
97755824(c.1684-227C>T),
97755828(c.1684-231G>A),
97755894(c.1684-297C>G),
97755983(c.1684-386C>T),
97755998(c.1684-401G>T),
97756004(c.1684-407G>A),
97756056(c.1684-459G>C),
97756088(c.1684-491A>C),
97756173(c.1684-576T>A),
97756233(c.1684-636A>C),
97756243(c.1683+641C>T),
97756262(c.1683+622A>C),
97756298(c.1683+586G>C),
97756387(c.1683+497G>A),
97756393(c.1683+491G>T),
97756452(c.1683+432C>T),
97756570(c.1683+314A>C),
97756614(c.1683+270T>C),
97756703(c.1683+181A>G),
97756775(c.1683+109G>C),
97757107(c.1471-11C>G),
97757121(c.1471-25G>C),
97757169(c.1470+35C>A),
97757192(c.1470+12C>T),
97757446(c.1377+86A>G),
97757488(c.1377+44G>T),
97757731(c.1258-80C>T),
97757781(c.1258-130A>G),
97757859(c.1258-208G>A),
97757867(c.1258-216C>T),
97758036(c.1258-385C>T),
97758280(c.1257+519A>G),
97758528(c.1257+271C>T),
97758537(c.1257+262C>T),
97758586(c.1257+213G>A),
97758668(c.1257+131G>T),
97758773(c.1257+26G>A),
97759147(c.1126-217T>C),
97759179(c.1126-249G>C),
97759197(c.1126-267T>C),
97759273(c.1126-343C>A),
97759371(c.1126-441A>T),
97759453(c.1126-523T>A),
97759489(c.1126-559T>C),
97759549(c.1126-619A>G),
97759551(c.1126-621A>T),
97759554(c.1126-624A>T),
97759597(c.1126-667T>C),
97759646(c.1126-716C>T),
97759681(c.1126-751G>A),
97759705(c.1126-775T>C),
97759737(c.1126-807C>A),
97759744(c.1126-814A>T),
97759835(c.1126-905C>T),
97760097(c.1126-1167C>T),
97760100(c.1126-1170C>T),
97760462(c.1126-1532C>T),
97760615(c.1126-1685A>G),
97760673(c.1126-1743T>C),
97760740(c.1126-1810A>G),
97760821(c.1126-1891A>T),
97760881(c.1126-1951T>C),
97760919(c.1126-1989A>T),
97761171(c.1126-2241G>A),
97761325(c.1126-2395A>C),
97761343(c.1126-2413C>T),
97761418(c.1126-2488G>A),
97761494(c.1126-2564C>T),
97761533(c.1126-2603A>G),
97761606(c.1126-2676G>A),
97761653(c.1126-2723T>G),
97761779(c.1126-2849T>C),
97761783(c.1126-2853C>T),
97761813(c.1126-2883C>T),
97761888(c.1126-2958A>G),
97761924(c.1126-2994G>A),
97761972(c.1126-3042A>C),
97761989(c.1126-3059C>T),
97762237(c.1126-3307A>G),
97762327(c.1126-3397T>A),
97762526(c.1126-3596A>G),
97762557(c.1126-3627T>C),
97762606(c.1126-3676C>T),
97762621(c.1126-3691A>G),
97762681(c.1126-3751A>G),
97762855(c.1125+3619A>G),
97763058(c.1125+3416C>T),
97763184(c.1125+3290C>T),
97763341(c.1125+3133C>T),
97763466(c.1125+3008T>C),
97763698(c.1125+2776G>A),
97763699(c.1125+2775T>C),
97763966(c.1125+2508G>C),
97764156(c.1125+2318G>T),
97764246(c.1125+2228G>A),
97764395(c.1125+2079A>G),
97764741(c.1125+1733A>G),
97764757(c.1125+1717G>A),
97764807(c.1125+1667A>T),
97764810(c.1125+1664T>C),
97765035(c.1125+1439T>A),
97765105(c.1125+1369T>C),
97765138(c.1125+1336G>A),
97765149(c.1125+1325A>G),
97765184(c.1125+1290T>C),
97765359(c.1125+1115C>A),
97765670(c.1125+804A>T),
97766001(c.1125+473A>C),
97766182(c.1125+292G>T),
-1kb
97734059(c.*7212C>T),
97734064(c.*7207G>A),
97734723(c.*6548T>C),
97734864(c.*6407T>C),
97734868(c.*6403T>C),
97734910(c.*6361T>C),
97734990(c.*6281G>A),
97735186(c.*6085G>A),
97735462(c.*5809A>G),
97735547(c.*5724T>A),
97735784(c.*5487G>A),
97735790(c.*5481C>A),
97735840(c.*5431C>T),
97735922(c.*5349G>T),
97735970(c.*5301G>A),
97736007(c.*5264C>T),
97736027(c.*5244C>A),
97736039(c.*5232C>A),
97736055(c.*5216A>G),
97736237(c.*5034C>A),
97736300(c.*4971A>T),
97736323(c.*4948G>T),
97736326(c.*4945G>T),
97736443(c.*4828T>C),
97736655(c.*4616T>G),
97736795(c.*4476T>C),
97736911(c.*4360G>A),
97736958(c.*4313G>A),
97736984(c.*4287G>A),
97737042(c.*4229T>C),
97737053(c.*4218G>T),
97737071(c.*4200G>T),
97737212(c.*4059A>G),
97737228(c.*4043A>C),
97737557(c.*3714G>C),
97737611(c.*3660G>C),
97737703(c.*3568C>A),
97737744(c.*3527T>C),
97737767(c.*3504C>A),
97737912(c.*3359G>C),
97737913(c.*3358A>C),
97737974(c.*3297A>T),
97738025(c.*3246G>C),
97738051(c.*3220G>A),
97738317(c.*2954G>A),
97738587(c.*2684T>C),
97738812(c.*2459A>G),
|
| Insertions |
+1kb
5'UTR
CDS
3'UTR
INTRON
97744141 (c.2815-540_2815-539insCTT),
97745302 (c.2814+1369_2814+1370insATTCATTT),
97748578 (c.2470-644_2470-643insT),
97749870 (c.2470-1936_2470-1935insCTA),
97750731 (c.2469+1077_2469+1078insCAC),
97752959 (c.2274+56_2274+57insC),
97754009 (c.2094+116dupT),
97755128 (c.1842+310_1842+311insA),
97755414 (c.1842+24dupT),
97755805 (c.1684-209dupT),
97758197 (c.1258-551_1258-547dupGTTTT),
97761240 (c.1126-2311dupC),
97763625 (c.1125+2848_1125+2849insTCA),
97764285 (c.1125+2188dupA),
97765035 (c.1125+1438_1125+1439insAAA),
97765247 (c.1125+1226dupC),
-1kb
|
| Deletions |
+1kb
5'UTR
CDS
3'UTR
INTRON
97743354 (c.2932-56_2932-53delACTC),
97745552 (c.2814+1119delT),
97746785 (c.2723-23delC),
97748204 (c.2470-270delC),
97749857 (c.2470-1923delT),
97753234 (c.2095-40delG),
97753464 (c.2095-271_2095-270delCT),
97753753 (c.2094+365_2094+372delCGAGTACC),
97757352 (c.1378-59_1378-57delAAG),
97758622 (c.1257+171_1257+176delATGTGT),
97759531 (c.1126-607_1126-602delAGCTAT),
97760796 (c.1126-1870_1126-1867delTATT),
97761628 (c.1126-2707_1126-2699delAATGTTTTA),
97763044 (c.1125+3426_1125+3429delTATG),
97764279 (c.1125+2193_1125+2194delAA),
-1kb
97735234 (c.*6033_*6036delAGAG),
97735248 (c.*6019_*6022delAAGG),
97736022 (c.*5248delA),
97736158 (c.*5110_*5112delTTT),
97736342 (c.*4923_*4928delGTGCTA),
97736705 (c.*4565delA),
97736924 (c.*4341_*4346delAAAAAA),
97737358 (c.*3912delC),
97737858 (c.*3412delG),
97737936 (c.*3334delT),
97738778 (c.*2492delT),
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 11 |
| non-synonymous num | 6 |
| synonymous substitutions |
97741352 (p.Arg1092Arg),
97742497 (p.Gln1058Gln),
97743552 (p.Leu955Leu),
97747771 (p.Thr878Thr),
97747801 (p.Thr868Thr),
97753040 (p.Leu750Leu),
97753106 (p.Leu728Leu),
97755514 (p.Tyr589Tyr),
97756968 (p.Ala533Ala),
97757550 (p.Leu453Leu),
97767188 (p.Gly137Gly),
|
| non-synonymous substitutions |
97741432 (p.Gly1066Arg),
97743567 (p.Met950Ile),
97743569 (p.Met950Val),
97743600 (p.Met939Ile),
97747833 (p.Thr858Ala),
97766941 (p.Asp220Tyr),
|
B6 transcript
(ENSMUST00000045243)
|
MKEICRICARELCGNQRRWIFHTASKLNLQVLLSHVLGKDVSRDGKAEFACSKCAFMLDR
IYRFDTVIARIEALSLERLQKLLLEKDRLKFCIASMYRKNNDDSGEENKAGSGTVDISGL
PDMRYAALLQEDFAYSGFECWVENEDQINDSHSCHASEGPGNRPRRCRGCAALRVADSDY
EAICKVPRKVARSISYAPSSRWSTSICTEEPALSEVGPPDLASTKVPPDGESMEEGTPGS
SVESLDASVQASPPQQKDEETERSAKELVKCDYCSDEQAPQHLCNHKLELALSMIKGLDY
KPIQSPRGSKLPIPVKSILPGAKPGHILTNGVSSSFLNRPLKPLYRTPVSYPWEISDGQE
LWDDLCDEYLPIGFQPVPKGLPTQQKPDLHETPTTQPPVSESHLAELQDKIQQTEATNKI
LQEKLNDLSCELKSAQESSQKQDTTIQSLKEMLKSRESETEELYQVIEGQNDTMAKLREM
LHQSQLGQLHSSEGIAPAQQQVALLDLQSALFCSQLEIQRLQRLVRQKERQLADGKRCVQ
LVEAAAQEREHQKEAAWKHNQELRKALQHLQGELHSKSQQLHVLEAEKYNEIRTQGQNIQ
HLSHSLSHKEQLIQELQELLQYRDNADKTLDTNEVFLEKLRQRIQDRAVALERVIDEKFS
ALEEKDKELRQLRLAVRDRDHDLERLRCVLSANEATMQSMESLLRARGLEVEQLTATCQN
LQWLKEELETKFGHWQKEQESIIQQLQTSLHDRNKEVEDLSATLLCKLGPGQSEVAEELC
QRLQRKERMLQDLLSDRNKQAVEHEMEIQGLLQSMGTREQERQAAAEKMVQAFMERNSEL
QALRQYLGGKELMTSSQTFISNQPAGVTSIGPHHGEQTDQGSMQMPSRDDSTSLTAREEA
SIPRSTLGDSDTVAGLEKELSNAKEELELMAKKERESQMELSALQSMMAMQEEELQVQAA
DLESLTRNVQIKEDLIKDLQMQLVDPEDIPAMERLTQEVLLLREKVASVEPQGQEVSGNK
RQQLLLMLEGLVDERSRLNEALQAERQLYSSLVKFHAQPENSERDGTLQVELEGAQVLRT
RLEEVLGRSLERLSRLESLAAIGGGELESVQARHKHAF*
|
|
MSMv4 transcript
|
MKEICRICARELCGNQRRWIFHTASKLNLQVLLSHVLGKDVSRDGKAEFACSKCAFMLDR
IYRFDTVIARIEALSLERLQKLLLEKDRLKFCIASMYRKNNDDSGEENKAGSGTVDISGL
PDMRYAALLQEDFAYSGFECWVENEDQINDSHSCHASEGPGNRPRRCRGCAALRVADSDY
EAICKVPRKVARSISYAPSSRWSTSICTEEPALSEVGPPYLASTKVPPDGESMEEGTPGS
SVESLDASVQASPPQQKDEETERSAKELVKCDYCSDEQAPQHLCNHKLELALSMIKGLDY
KPIQSPRGSKLPIPVKSILPGAKPGHILTNGVSSSFLNRPLKPLYRTPVSYPWEISDGQE
LWDDLCDEYLPIGFQPVPKGLPTQQKPDLHETPTTQPPVSESHLAELQDKIQQTEATNKI
LQEKLNDLSCELKSAQESSQKQDTTIQSLKEMLKSRESETEELYQVIEGQNDTMAKLREM
LHQSQLGQLHSSEGIAPAQQQVALLDLQSALFCSQLEIQRLQRLVRQKERQLADGKRCVQ
LVEAAAQEREHQKEAAWKHNQELRKALQHLQGELHSKSQQLHVLEAEKYNEIRTQGQNIQ
HLSHSLSHKEQLIQELQELLQYRDNADKTLDTNEVFLEKLRQRIQDRAVALERVIDEKFS
ALEEKDKELRQLRLAVRDRDHDLERLRCVLSANEATMQSMESLLRARGLEVEQLTATCQN
LQWLKEELETKFGHWQKEQESIIQQLQTSLHDRNKEVEDLSATLLCKLGPGQSEVAEELC
QRLQRKERMLQDLLSDRNKQAVEHEMEIQGLLQSMGTREQERQAAAEKMVQAFMERNSEL
QALRQYLGGKELMTSSQAFISNQPAGVTSIGPHHGEQTDQGSMQMPSRDDSTSLTAREEA
SIPRSTLGDSDTVAGLEKELSNAKEELELMAKKERESQIELSALQSMMAVQEEELQVQAA
DLESLTRNVQIKEDLIKDLQMQLVDPEDIPAMERLTQEVLLLREKVASVEPQGQEVSGNK
RQQLLLMLEGLVDERSRLNEALQAERQLYSSLVKFHAQPENSERDRTLQVELEGAQVLRT
RLEEVLGRSLERLSRLESLAAIGGGELESVQARHKHAF*
|
| homology | 99.55 (1119 / 1119) |
|