| Reports |
| substitution |
| cSNPs | 1 |
| Insertion | 37 |
| Deletion | 34 |
| SNPs |
-1kb
4803794(c.-4120A>T),
4804291(c.-3623A>C),
4804863(c.-3051C>T),
4804925(c.-2989C>A),
4804942(c.-2972C>T),
4805009(c.-2905C>T),
4805044(c.-2870A>C),
4805052(c.-2862C>A),
4805149(c.-2765C>T),
4805181(c.-2733T>A),
4805256(c.-2658G>A),
4805261(c.-2653A>G),
4805377(c.-2537T>C),
4805426(c.-2488G>T),
4805647(c.-2267G>A),
4805675(c.-2239A>G),
4805802(c.-2112C>A),
4805933(c.-1981T>A),
4806104(c.-1810G>A),
4806114(c.-1800T>C),
4806188(c.-1726G>C),
4806633(c.-1281A>T),
4806808(c.-1106T>C),
4807361(c.-553A>G),
4807532(c.-382A>G),
4807617(c.-297G>T),
4807660(c.-254A>C),
4807714(c.-200G>T),
5'UTR
CDS
3'UTR
INTRON
4808277(c.70-178C>G),
4808870(c.101+384T>C),
4808987(c.101+501C>T),
4809276(c.101+790T>C),
4810043(c.101+1557G>A),
4810066(c.101+1580T>G),
4810067(c.101+1581A>C),
4810068(c.101+1582T>A),
4810092(c.101+1606A>G),
4810541(c.101+2055G>A),
4810832(c.101+2346G>A),
4811166(c.101+2680T>C),
4812412(c.101+3926G>C),
4813640(c.101+5154C>A),
4813692(c.101+5206C>A),
4813774(c.101+5288C>T),
4813776(c.101+5290G>A),
4813842(c.101+5356G>A),
4813852(c.101+5366G>A),
4813854(c.101+5368G>A),
4813855(c.101+5369C>T),
4813972(c.101+5486C>T),
4814041(c.101+5555C>T),
4814075(c.101+5589C>T),
4814077(c.101+5591G>T),
4814127(c.101+5641C>T),
4814377(c.101+5891G>C),
4814478(c.101+5992T>C),
4815327(c.101+6841T>A),
4815512(c.101+7026C>T),
4815576(c.101+7090G>A),
4815577(c.101+7091T>C),
4815620(c.101+7134A>G),
4815634(c.101+7148T>A),
4815806(c.101+7320C>T),
4815844(c.101+7358G>A),
4819890(c.102-8694T>C),
4820123(c.102-8461T>C),
4820269(c.102-8315T>G),
4820281(c.102-8303C>T),
4820486(c.102-8098T>C),
4820521(c.102-8063A>G),
4820690(c.102-7894G>T),
4820740(c.102-7844G>A),
4820868(c.102-7716A>C),
4820932(c.102-7652T>C),
4820983(c.102-7601A>G),
4821199(c.102-7385C>T),
4821207(c.102-7377T>A),
4821582(c.102-7002A>G),
4821759(c.102-6825C>G),
4821773(c.102-6811G>C),
4822330(c.102-6254G>A),
4822399(c.102-6185C>G),
4822423(c.102-6161C>G),
4822569(c.102-6015A>G),
4822839(c.102-5745A>G),
4822843(c.102-5741G>A),
4822986(c.102-5598T>G),
4823414(c.102-5170C>A),
4823479(c.102-5105T>C),
4823950(c.102-4634C>A),
4824263(c.102-4321C>T),
4824264(c.102-4320A>G),
4824270(c.102-4314C>T),
4824297(c.102-4287T>A),
4824302(c.102-4282A>T),
4824303(c.102-4281A>T),
4824695(c.102-3889C>G),
4824734(c.102-3850G>A),
4824760(c.102-3824C>A),
4824822(c.102-3762T>C),
4825030(c.102-3554T>C),
4825085(c.102-3499A>T),
4825166(c.102-3418T>C),
4825389(c.102-3195A>C),
4825404(c.102-3180C>T),
4825419(c.102-3165A>G),
4825535(c.102-3049G>T),
4825683(c.102-2901G>T),
4825734(c.102-2850C>T),
4825745(c.102-2839A>G),
4825759(c.102-2825C>T),
4825760(c.102-2824T>G),
4825778(c.102-2806T>C),
4825798(c.102-2786G>A),
4825838(c.102-2746G>A),
4825898(c.102-2686T>G),
4825900(c.102-2684G>T),
4825959(c.102-2625T>C),
4826053(c.102-2531C>T),
4826054(c.102-2530A>G),
4826061(c.102-2523A>C),
4826161(c.102-2423A>C),
4826264(c.102-2320A>C),
4826286(c.102-2298C>T),
4826290(c.102-2294C>T),
4826423(c.102-2161G>A),
4826453(c.102-2131A>G),
4826704(c.102-1880A>C),
4826780(c.102-1804A>G),
4826805(c.102-1779A>G),
4826859(c.102-1725T>C),
4827115(c.102-1469T>A),
4827962(c.102-622A>G),
4827972(c.102-612C>G),
4828006(c.102-578G>T),
4828015(c.102-569A>G),
4828049(c.102-535T>C),
4828061(c.102-523T>C),
4828237(c.102-347G>A),
4828294(c.102-290C>G),
4828358(c.102-226A>C),
4828394(c.102-190C>G),
4828403(c.102-181G>A),
4828469(c.102-115G>A),
4828496(c.102-88C>A),
4828498(c.102-86T>C),
4829516(c.168-752A>G),
4829538(c.168-730A>G),
4829559(c.168-709T>C),
4829575(c.168-693G>C),
4829692(c.168-576A>G),
4829746(c.168-522T>C),
4829812(c.168-456T>G),
4829979(c.168-289A>T),
4830103(c.168-165A>C),
4830123(c.168-145C>A),
4830223(c.168-45A>C),
4830247(c.168-21C>G),
4830392(c.215+77T>G),
4830428(c.215+113G>A),
4830438(c.215+123T>C),
4830444(c.215+129A>G),
4830550(c.215+235A>G),
4830579(c.215+264A>G),
4830658(c.215+343C>T),
4830816(c.215+501A>G),
4830893(c.215+578G>A),
4830910(c.215+595G>A),
4830920(c.215+605G>A),
4831078(c.215+763C>T),
4831080(c.215+765G>A),
4831332(c.216-979G>A),
4831359(c.216-952C>T),
4831372(c.216-939C>T),
4831402(c.216-909C>A),
4831483(c.216-828G>A),
4831583(c.216-728A>T),
4831668(c.216-643A>C),
4831941(c.216-370T>G),
4832032(c.216-279G>A),
4832117(c.216-194C>T),
4832133(c.216-178G>A),
4832246(c.216-65A>G),
4832266(c.216-45A>T),
4832272(c.216-39A>G),
4832391(c.286+10A>G),
4832621(c.286+240G>T),
4832805(c.286+424A>C),
4832823(c.286+442A>G),
4832880(c.286+499T>A),
4833282(c.286+901T>C),
4833305(c.286+924A>G),
4833322(c.286+941C>T),
4833326(c.286+945T>C),
4833364(c.286+983G>A),
4833974(c.286+1593G>A),
4833976(c.286+1595C>G),
4833997(c.286+1616A>C),
4834001(c.286+1620T>C),
4834016(c.286+1635C>G),
4834024(c.286+1643G>A),
4834026(c.286+1645C>G),
4834051(c.286+1670C>T),
4834065(c.286+1684T>C),
4834074(c.286+1693G>A),
4834076(c.286+1695C>G),
4834180(c.286+1799T>C),
4834279(c.286+1898C>T),
4834281(c.286+1900A>G),
4834295(c.286+1914G>T),
4834304(c.286+1923G>C),
4836216(c.287-785C>G),
4836245(c.287-756T>C),
4836525(c.287-476C>T),
4836536(c.287-465C>T),
4836837(c.287-164C>A),
4836854(c.287-147A>C),
4836945(c.287-56C>T),
4837104(c.360+30A>G),
4837454(c.360+380C>A),
4837821(c.360+747G>A),
4837917(c.360+843G>T),
4837955(c.360+881A>G),
4837960(c.360+886G>A),
4838306(c.361-1081A>T),
4838432(c.361-955G>T),
4838630(c.361-757G>A),
4838789(c.361-598C>T),
4839114(c.361-273G>A),
4839208(c.361-179C>T),
4839232(c.361-155A>G),
4839331(c.361-56C>A),
4839354(c.361-33A>G),
4839833(c.462+345C>G),
4839875(c.462+387C>T),
4839876(c.462+388G>A),
4839969(c.462+481T>C),
4839993(c.462+505C>T),
4840020(c.462+532T>A),
4840216(c.462+728C>T),
4840233(c.463-723T>C),
4840277(c.463-679C>A),
4840348(c.463-608T>C),
4840350(c.463-606C>T),
4840363(c.463-593G>A),
4840559(c.463-397G>A),
4840581(c.463-375C>T),
4840696(c.463-260C>T),
4840776(c.463-180C>T),
+1kb
4841304(c.*145G>A),
4841381(c.*222C>T),
4841690(c.*531G>A),
4841743(c.*584A>T),
4841804(c.*645C>T),
4841806(c.*647T>C),
4841856(c.*697A>T),
4841956(c.*797A>G),
4841967(c.*808A>G),
4842115(c.*956C>T),
4842203(c.*1044G>T),
4842289(c.*1130T>C),
4842307(c.*1148G>C),
4842309(c.*1150A>C),
4842372(c.*1213A>T),
4842519(c.*1360T>G),
4842700(c.*1541A>C),
4843022(c.*1863A>G),
4843031(c.*1872C>T),
4843224(c.*2065T>C),
4843261(c.*2102A>G),
4843268(c.*2109G>C),
4843425(c.*2266G>A),
4843695(c.*2536C>A),
4844006(c.*2847C>G),
4844075(c.*2916G>C),
4844116(c.*2957G>C),
4844205(c.*3046C>T),
4844307(c.*3148T>C),
4844308(c.*3149T>C),
4844321(c.*3162C>T),
4844396(c.*3237C>T),
4844440(c.*3281T>A),
4844565(c.*3406C>T),
4844632(c.*3473C>T),
4844633(c.*3474A>G),
4844797(c.*3638G>A),
4844798(c.*3639A>T),
4844939(c.*3780T>C),
4845516(c.*4357G>A),
4845650(c.*4491G>A),
4845862(c.*4703C>A),
4845863(c.*4704C>G),
|
| Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
4809702 (c.101+1232_101+1235dupAATG),
4812632 (c.101+4150dupA),
4813145 (c.101+4665_101+4670dupTTTTTT),
4813751 (c.101+5265dupG),
4813814 (c.101+5329_101+5330insTC),
4813885 (c.101+5404_101+5405dupTT),
4821398 (c.102-7178_102-7177dupTT),
4822996 (c.102-5588_102-5587insA),
4823262 (c.102-5317dupT),
4823493 (c.102-5091_102-5090insT),
4823988 (c.102-4572_102-4569dupCTGT),
4825117 (c.102-3465dupC),
4825499 (c.102-3085_102-3084insTT),
4826406 (c.102-2177dupG),
4827132 (c.102-1445dupT),
4827837 (c.102-744_102-743insATTA),
4828136 (c.102-447_102-446insGTGTAT),
4829465 (c.168-803_168-802insAAAGGC),
4830387 (c.215+73dupT),
4832239 (c.216-73_216-72dupTT),
4832464 (c.286+83_286+84insGATT),
4832998 (c.286+618_286+622dupTATAA),
4833881 (c.286+1503_286+1504insAGAAA),
4837254 (c.360+180_360+181insGTT),
4838045 (c.360+977dupA),
4838790 (c.361-597_361-596insC),
4839315 (c.361-59_361-58dupAA),
4839974 (c.462+486_462+487insA),
+1kb
|
| Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
4809863 (c.101+1410_101+1417delTGTGTGTG),
4811119 (c.101+2684_101+2686delCCT),
4814343 (c.101+5864delT),
4819646 (c.102-8936delT),
4820170 (c.102-8413_102-8412delTT),
4820238 (c.102-8345_102-8342delTCTC),
4820565 (c.102-8018_102-8011delTGTGTGTG),
4821300 (c.102-7283_102-7280delGCAG),
4822271 (c.102-6306delT),
4822510 (c.102-6069delT),
4823128 (c.102-5455delA),
4825339 (c.102-3243delA),
4825971 (c.102-2612_102-2611delTC),
4827015 (c.102-1568delC),
4829348 (c.167+704delA),
4830645 (c.215+331_215+333delAAT),
4830678 (c.215+373delT),
4830687 (c.215+373delT),
4832269 (c.216-41delT),
4832509 (c.286+129_286+137delCTTTCCTTT),
4832687 (c.286+307_286+309delCCT),
4832701 (c.286+321_286+322delTC),
4834494 (c.286+2122_286+2123delAA),
4837280 (c.360+208_360+213delTCCTTT),
4840727 (c.463-218delA),
+1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 1 |
| non-synonymous num | 0 |
| synonymous substitutions |
4832380 (p.Thr95Thr),
|
| non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000150971)
|
MCGNNMSAPMPAVVPAARKATAAVIFLHGLGDTGHGWAEAFAGIKSPHIKYICPHAPVMP
VTLNMNMAMPSWFDIVGLSPDSQEDESGIKQAAETVKALIDQEVKNGIPSNRIILGGFSQ
GGALSLYTALTTQQKLAGVTALSCWLPLRASFSQGPINSANRDISVLQCHGDCDPLVPLM
FGSLTVERLKALINPANVTFKIYEGMMHSSCQQVGVSGSSE*
|
|
MSMv4 transcript
|
MCGNNMSAPMPAVVPAARKATAAVIFLHGLGDTGHGWAEAFAGIKSPHIKYICPHAPVMP
VTLNMNMAMPSWFDIVGLSPDSQEDESGIKQAAETVKALIDQEVKNGIPSNRIILGGFSQ
GGALSLYTALTTQQKLAGVTALSCWLPLRASFSQGPINSANRDISVLQCHGDCDPLVPLM
FGSLTVERLKALINPANVTFKIYEGMMHSSCQQVGVSGSSE*
|
| homology | 100.00 (222 / 222) |
|