| Reports |
|---|
| substitution |
|---|
| cSNPs | 1 |
|---|
| Insertion | 37 |
|---|
| Deletion | 34 |
|---|
| SNPs |
-1kb
4803794(c.-26481A>T),
4804291(c.-25984A>C),
4804863(c.-25412C>T),
4804925(c.-25350C>A),
4804942(c.-25333C>T),
4805009(c.-25266C>T),
4805044(c.-25231A>C),
4805052(c.-25223C>A),
4805149(c.-25126C>T),
4805181(c.-25094T>A),
4805256(c.-25019G>A),
4805261(c.-25014A>G),
4805377(c.-24898T>C),
4805426(c.-24849G>T),
4805647(c.-24628G>A),
4805675(c.-24600A>G),
4805802(c.-24473C>A),
4805933(c.-24342T>A),
4806104(c.-24171G>A),
4806114(c.-24161T>C),
4806188(c.-24087G>C),
4806633(c.-23642A>T),
4806808(c.-23467T>C),
4807361(c.-22914A>G),
4807532(c.-22743A>G),
4807617(c.-22658G>T),
4807660(c.-22615A>C),
4807714(c.-22561G>T),
- 5'UTR
- CDS
- 3'UTR
- INTRON
4808870(c.-74+384T>C),
4808987(c.-74+501C>T),
4809276(c.-74+790T>C),
4810043(c.-74+1557G>A),
4810066(c.-74+1580T>G),
4810067(c.-74+1581A>C),
4810068(c.-74+1582T>A),
4810092(c.-74+1606A>G),
4810541(c.-74+2055G>A),
4810832(c.-74+2346G>A),
4811166(c.-74+2680T>C),
4812412(c.-74+3926G>C),
4813640(c.-74+5154C>A),
4813692(c.-74+5206C>A),
4813774(c.-74+5288C>T),
4813776(c.-74+5290G>A),
4813842(c.-74+5356G>A),
4813852(c.-74+5366G>A),
4813854(c.-74+5368G>A),
4813855(c.-74+5369C>T),
4813972(c.-74+5486C>T),
4814041(c.-74+5555C>T),
4814075(c.-74+5589C>T),
4814077(c.-74+5591G>T),
4814127(c.-74+5641C>T),
4814377(c.-74+5891G>C),
4814478(c.-74+5992T>C),
4815327(c.-74+6841T>A),
4815512(c.-74+7026C>T),
4815576(c.-74+7090G>A),
4815577(c.-74+7091T>C),
4815620(c.-74+7134A>G),
4815634(c.-74+7148T>A),
4815806(c.-74+7320C>T),
4815844(c.-74+7358G>A),
4819890(c.-73-8694T>C),
4820123(c.-73-8461T>C),
4820269(c.-73-8315T>G),
4820281(c.-73-8303C>T),
4820486(c.-73-8098T>C),
4820521(c.-73-8063A>G),
4820690(c.-73-7894G>T),
4820740(c.-73-7844G>A),
4820868(c.-73-7716A>C),
4820932(c.-73-7652T>C),
4820983(c.-73-7601A>G),
4821199(c.-73-7385C>T),
4821207(c.-73-7377T>A),
4821582(c.-73-7002A>G),
4821759(c.-73-6825C>G),
4821773(c.-73-6811G>C),
4822330(c.-73-6254G>A),
4822399(c.-73-6185C>G),
4822423(c.-73-6161C>G),
4822569(c.-73-6015A>G),
4822839(c.-73-5745A>G),
4822843(c.-73-5741G>A),
4822986(c.-73-5598T>G),
4823414(c.-73-5170C>A),
4823479(c.-73-5105T>C),
4823950(c.-73-4634C>A),
4824263(c.-73-4321C>T),
4824264(c.-73-4320A>G),
4824270(c.-73-4314C>T),
4824297(c.-73-4287T>A),
4824302(c.-73-4282A>T),
4824303(c.-73-4281A>T),
4824695(c.-73-3889C>G),
4824734(c.-73-3850G>A),
4824760(c.-73-3824C>A),
4824822(c.-73-3762T>C),
4825030(c.-73-3554T>C),
4825085(c.-73-3499A>T),
4825166(c.-73-3418T>C),
4825389(c.-73-3195A>C),
4825404(c.-73-3180C>T),
4825419(c.-73-3165A>G),
4825535(c.-73-3049G>T),
4825683(c.-73-2901G>T),
4825734(c.-73-2850C>T),
4825745(c.-73-2839A>G),
4825759(c.-73-2825C>T),
4825760(c.-73-2824T>G),
4825778(c.-73-2806T>C),
4825798(c.-73-2786G>A),
4825838(c.-73-2746G>A),
4825898(c.-73-2686T>G),
4825900(c.-73-2684G>T),
4825959(c.-73-2625T>C),
4826053(c.-73-2531C>T),
4826054(c.-73-2530A>G),
4826061(c.-73-2523A>C),
4826161(c.-73-2423A>C),
4826264(c.-73-2320A>C),
4826286(c.-73-2298C>T),
4826290(c.-73-2294C>T),
4826423(c.-73-2161G>A),
4826453(c.-73-2131A>G),
4826704(c.-73-1880A>C),
4826780(c.-73-1804A>G),
4826805(c.-73-1779A>G),
4826859(c.-73-1725T>C),
4827115(c.-73-1469T>A),
4827962(c.-73-622A>G),
4827972(c.-73-612C>G),
4828006(c.-73-578G>T),
4828015(c.-73-569A>G),
4828049(c.-73-535T>C),
4828061(c.-73-523T>C),
4828237(c.-73-347G>A),
4828294(c.-73-290C>G),
4828358(c.-73-226A>C),
4828394(c.-73-190C>G),
4828403(c.-73-181G>A),
4828469(c.-73-115G>A),
4828496(c.-73-88C>A),
4828498(c.-73-86T>C),
4829516(c.-7-752A>G),
4829538(c.-7-730A>G),
4829559(c.-7-709T>C),
4829575(c.-7-693G>C),
4829692(c.-7-576A>G),
4829746(c.-7-522T>C),
4829812(c.-7-456T>G),
4829979(c.-7-289A>T),
4830103(c.-7-165A>C),
4830123(c.-7-145C>A),
4830223(c.-7-45A>C),
4830247(c.-7-21C>G),
4830392(c.41+77T>G),
4830428(c.41+113G>A),
4830438(c.41+123T>C),
4830444(c.41+129A>G),
4830550(c.41+235A>G),
4830579(c.41+264A>G),
4830658(c.41+343C>T),
4830816(c.41+501A>G),
4830893(c.41+578G>A),
4830910(c.41+595G>A),
4830920(c.41+605G>A),
4831078(c.41+763C>T),
4831080(c.41+765G>A),
4831332(c.42-979G>A),
4831359(c.42-952C>T),
4831372(c.42-939C>T),
4831402(c.42-909C>A),
4831483(c.42-828G>A),
4831583(c.42-728A>T),
4831668(c.42-643A>C),
4831941(c.42-370T>G),
4832032(c.42-279G>A),
4832117(c.42-194C>T),
4832133(c.42-178G>A),
4832246(c.42-65A>G),
4832266(c.42-45A>T),
4832272(c.42-39A>G),
4832391(c.112+10A>G),
4832621(c.112+240G>T),
4832805(c.112+424A>C),
4832823(c.112+442A>G),
4832880(c.112+499T>A),
4833282(c.112+901T>C),
4833305(c.112+924A>G),
4833322(c.112+941C>T),
4833326(c.112+945T>C),
4833364(c.112+983G>A),
4833974(c.112+1593G>A),
4833976(c.112+1595C>G),
4833997(c.112+1616A>C),
4834001(c.112+1620T>C),
4834016(c.112+1635C>G),
4834024(c.112+1643G>A),
4834026(c.112+1645C>G),
4834051(c.112+1670C>T),
4834065(c.112+1684T>C),
4834074(c.112+1693G>A),
4834076(c.112+1695C>G),
4834180(c.112+1799T>C),
4834279(c.112+1898C>T),
4834281(c.112+1900A>G),
4834295(c.112+1914G>T),
4834304(c.112+1923G>C),
4836216(c.113-785C>G),
4836245(c.113-756T>C),
4836525(c.113-476C>T),
4836536(c.113-465C>T),
4836837(c.113-164C>A),
4836854(c.113-147A>C),
4836945(c.113-56C>T),
4837104(c.186+30A>G),
4837454(c.186+380C>A),
4837821(c.186+747G>A),
4837917(c.186+843G>T),
4837955(c.186+881A>G),
4837960(c.186+886G>A),
4838306(c.187-1081A>T),
4838432(c.187-955G>T),
4838630(c.187-757G>A),
4838789(c.187-598C>T),
4839114(c.187-273G>A),
4839208(c.187-179C>T),
4839232(c.187-155A>G),
4839331(c.187-56C>A),
4839354(c.187-33A>G),
4839833(c.288+345C>G),
4839875(c.288+387C>T),
4839876(c.288+388G>A),
4839969(c.288+481T>C),
4839993(c.288+505C>T),
4840020(c.288+532T>A),
4840216(c.288+728C>T),
4840233(c.289-723T>C),
4840277(c.289-679C>A),
4840348(c.289-608T>C),
4840350(c.289-606C>T),
4840363(c.289-593G>A),
4840559(c.289-397G>A),
4840581(c.289-375C>T),
4840696(c.289-260C>T),
4840776(c.289-180C>T),
-
+1kb
4841233(c.*140A>G),
4841237(c.*144A>G),
4841260(c.*167C>A),
4841304(c.*211G>A),
4841381(c.*288C>T),
4841690(c.*597G>A),
4841743(c.*650A>T),
4841804(c.*711C>T),
4841806(c.*713T>C),
4841856(c.*763A>T),
4841956(c.*863A>G),
4841967(c.*874A>G),
4842115(c.*1022C>T),
4842203(c.*1110G>T),
4842289(c.*1196T>C),
4842307(c.*1214G>C),
4842309(c.*1216A>C),
4842372(c.*1279A>T),
4842519(c.*1426T>G),
4842700(c.*1607A>C),
4843022(c.*1929A>G),
4843031(c.*1938C>T),
4843224(c.*2131T>C),
4843261(c.*2168A>G),
4843268(c.*2175G>C),
4843425(c.*2332G>A),
4843695(c.*2602C>A),
4844006(c.*2913C>G),
4844075(c.*2982G>C),
4844116(c.*3023G>C),
4844205(c.*3112C>T),
4844307(c.*3214T>C),
4844308(c.*3215T>C),
4844321(c.*3228C>T),
4844396(c.*3303C>T),
4844440(c.*3347T>A),
4844565(c.*3472C>T),
4844632(c.*3539C>T),
4844633(c.*3540A>G),
4844797(c.*3704G>A),
4844798(c.*3705A>T),
4844939(c.*3846T>C),
4845516(c.*4423G>A),
4845650(c.*4557G>A),
4845862(c.*4769C>A),
4845863(c.*4770C>G),
|
|---|
| Insertions |
-
-1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
4809702 (c.-74+1232_-74+1235dupAATG),
4812632 (c.-74+4150dupA),
4813145 (c.-74+4665_-74+4670dupTTTTTT),
4813751 (c.-74+5265dupG),
4813814 (c.-74+5329_-74+5330insTC),
4813885 (c.-74+5404_-74+5405dupTT),
4821398 (c.-73-7178_-73-7177dupTT),
4822996 (c.-73-5588_-73-5587insA),
4823262 (c.-73-5317dupT),
4823493 (c.-73-5091_-73-5090insT),
4823988 (c.-73-4572_-73-4569dupCTGT),
4825117 (c.-73-3465dupC),
4825499 (c.-73-3085_-73-3084insTT),
4826406 (c.-73-2177dupG),
4827132 (c.-73-1445dupT),
4827837 (c.-73-744_-73-743insATTA),
4828136 (c.-73-447_-73-446insGTGTAT),
4829465 (c.-7-803_-7-802insAAAGGC),
4830387 (c.41+73dupT),
4832239 (c.42-73_42-72dupTT),
4832464 (c.112+83_112+84insGATT),
4832998 (c.112+618_112+622dupTATAA),
4833881 (c.112+1503_112+1504insAGAAA),
4837254 (c.186+180_186+181insGTT),
4838045 (c.186+977dupA),
4838790 (c.187-597_187-596insC),
4839315 (c.187-59_187-58dupAA),
4839974 (c.288+486_288+487insA),
-
+1kb
|
|---|
| Deletions |
-
-1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
4809863 (c.-74+1410_-74+1417delTGTGTGTG),
4811119 (c.-74+2684_-74+2686delCCT),
4814343 (c.-74+5864delT),
4819646 (c.-73-8936delT),
4820170 (c.-73-8413_-73-8412delTT),
4820238 (c.-73-8345_-73-8342delTCTC),
4820565 (c.-73-8018_-73-8011delTGTGTGTG),
4821300 (c.-73-7283_-73-7280delGCAG),
4822271 (c.-73-6306delT),
4822510 (c.-73-6069delT),
4823128 (c.-73-5455delA),
4825339 (c.-73-3243delA),
4825971 (c.-73-2612_-73-2611delTC),
4827015 (c.-73-1568delC),
4829348 (c.-8+704delA),
4830645 (c.41+331_41+333delAAT),
4830678 (c.41+373delT),
4830687 (c.41+373delT),
4832269 (c.42-41delT),
4832509 (c.112+129_112+137delCTTTCCTTT),
4832687 (c.112+307_112+309delCCT),
4832701 (c.112+321_112+322delTC),
4834494 (c.112+2122_112+2123delAA),
4837280 (c.186+208_186+213delTCCTTT),
4840727 (c.289-218delA),
-
+1kb
|
|---|
| coding sequence substitutions |
|---|
| premature termination by the nucleotide substitution | 0 |
|---|
| synonymous num | 1 |
|---|
| non-synonymous num | 0 |
|---|
| synonymous substitutions |
4832380 (p.Thr37Thr),
|
|---|
| non-synonymous substitutions |
|
|---|
B6 transcript
(ENSMUST00000131119)
|
MPVTLNMNMAMPSWFDIVGLSPDSQEDESGIKQAAETVKALIDQEVKNGIPSNRIILGGF
SQGGALSLYTALTTQQKLAGVTALSCWLPLRASFSQGPINSANRDISVLQCHGDCDPLVP
LMFGSLTVERLKALINPANVTF
|
|
MSMv4 transcript
|
MPVTLNMNMAMPSWFDIVGLSPDSQEDESGIKQAAETVKALIDQEVKNGIPSNRIILGGF
SQGGALSLYTALTTQQKLAGVTALSCWLPLRASFSQGPINSANRDISVLQCHGDCDPLVP
LMFGSLTVERLKALINPANVTF
|
| homology | 100.00 (142 / 142) |
|---|
|
