Reports |
substitution |
cSNPs | 3 |
Insertion | 30 |
Deletion | 52 |
SNPs |
-1kb
4853039(c.-4875T>A),
4853868(c.-4046T>C),
4853882(c.-4032A>G),
4853940(c.-3974T>C),
4853943(c.-3971A>G),
4854092(c.-3822T>C),
4854408(c.-3506T>C),
4854553(c.-3361C>G),
4854681(c.-3233A>C),
4854687(c.-3227G>A),
4854688(c.-3226T>C),
4854817(c.-3097A>G),
4854928(c.-2986C>A),
4855028(c.-2886G>T),
4855169(c.-2745T>A),
4855172(c.-2742C>A),
4855173(c.-2741A>C),
4855176(c.-2738A>G),
4855189(c.-2725C>T),
4855190(c.-2724T>C),
4855211(c.-2703C>A),
4855349(c.-2565G>A),
4855489(c.-2425A>T),
4855599(c.-2315T>C),
4855600(c.-2314G>T),
4855608(c.-2306G>A),
4855611(c.-2303A>C),
4855809(c.-2105G>A),
4855833(c.-2081G>T),
4856085(c.-1829A>G),
4856140(c.-1774C>T),
4856143(c.-1771G>T),
4856162(c.-1752G>C),
4856206(c.-1708A>G),
4856951(c.-963G>A),
4857012(c.-902A>G),
4857144(c.-770G>A),
4857188(c.-726A>C),
4857210(c.-704G>A),
4857305(c.-609T>A),
4857324(c.-590T>C),
4857397(c.-517T>A),
4857419(c.-495T>G),
4857551(c.-363G>A),
4857570(c.-344T>C),
4857601(c.-313G>A),
4857671(c.-243A>G),
4857679(c.-235A>T),
5'UTR
CDS
3'UTR
INTRON
4857989(c.63+13G>A),
4858177(c.63+201C>T),
4858790(c.63+814G>A),
4858877(c.63+901C>A),
4859038(c.63+1062A>G),
4859093(c.63+1117A>G),
4859095(c.63+1119A>T),
4859290(c.63+1314A>G),
4859445(c.63+1469C>A),
4859447(c.63+1471G>A),
4859453(c.63+1477C>A),
4859549(c.63+1573T>C),
4859978(c.63+2002C>T),
4860246(c.63+2270C>T),
4860322(c.63+2346A>G),
4860515(c.63+2539C>T),
4860526(c.63+2550C>T),
4860552(c.63+2576C>T),
4860570(c.63+2594C>T),
4860845(c.63+2869C>T),
4860870(c.63+2894T>A),
4861229(c.63+3253T>C),
4861255(c.63+3279A>T),
4861320(c.63+3344G>A),
4861344(c.63+3368C>G),
4861360(c.63+3384T>C),
4861408(c.63+3432A>G),
4861524(c.63+3548G>A),
4861617(c.63+3641T>G),
4861619(c.63+3643C>A),
4861685(c.63+3709C>T),
4862005(c.63+4029C>T),
4862044(c.63+4068C>A),
4865713(c.64-1757A>C),
4865739(c.64-1731C>G),
4865741(c.64-1729T>A),
4865774(c.64-1696A>T),
4865921(c.64-1549G>A),
4865957(c.64-1513C>T),
4865978(c.64-1492T>C),
4865992(c.64-1478G>C),
4867143(c.64-327C>T),
4867226(c.64-244T>C),
4867248(c.64-222A>G),
4867285(c.64-185T>C),
4867341(c.64-129C>T),
4867342(c.64-128A>G),
4867457(c.64-13C>T),
4867546(c.126+14C>T),
4867586(c.126+54G>A),
4867647(c.126+115T>C),
4867769(c.126+237A>T),
4867980(c.126+448T>C),
4868011(c.126+479A>G),
4868060(c.126+528G>A),
4868083(c.126+551G>T),
4868242(c.126+710C>A),
4868318(c.126+786C>G),
4868585(c.126+1053A>G),
4868615(c.126+1083G>A),
4868630(c.126+1098G>A),
4868670(c.126+1138G>T),
4868740(c.126+1208A>G),
4868801(c.126+1269A>G),
4868845(c.126+1313T>C),
4868931(c.126+1399A>C),
4868974(c.126+1442G>A),
4869001(c.126+1469C>A),
4869123(c.126+1591T>C),
4869126(c.126+1594T>C),
4869131(c.126+1599C>A),
4869224(c.126+1692G>T),
4869376(c.126+1844G>A),
4869381(c.126+1849C>A),
4869412(c.126+1880T>C),
4869591(c.126+2059T>C),
4869704(c.126+2172C>T),
4869743(c.126+2211A>G),
4869930(c.126+2398C>T),
4869959(c.126+2427G>A),
4870073(c.126+2541T>A),
4870209(c.126+2677C>T),
4870222(c.126+2690A>C),
4870492(c.126+2960T>C),
4870843(c.126+3311A>G),
4871031(c.126+3499C>G),
4871192(c.126+3660A>G),
4871279(c.126+3747C>T),
4871395(c.126+3863G>A),
4871539(c.126+4007G>A),
4871832(c.126+4300A>G),
4871913(c.126+4381T>C),
4872036(c.126+4504A>G),
4872171(c.126+4639A>G),
4872837(c.127-5190A>G),
4873501(c.127-4526C>T),
4874006(c.127-4021G>A),
4874059(c.127-3968A>G),
4874182(c.127-3845G>A),
4874253(c.127-3774A>G),
4874458(c.127-3569G>A),
4874930(c.127-3097G>A),
4875060(c.127-2967C>T),
4875114(c.127-2913C>A),
4875795(c.127-2232C>T),
4875861(c.127-2166A>G),
4875873(c.127-2154C>T),
4875972(c.127-2055C>T),
4876115(c.127-1912T>C),
4876130(c.127-1897A>G),
4876162(c.127-1865T>C),
4876206(c.127-1821A>T),
4876304(c.127-1723A>G),
4876362(c.127-1665C>T),
4876448(c.127-1579C>T),
4876882(c.127-1145C>G),
4877153(c.127-874T>G),
4877498(c.127-529A>C),
4877514(c.127-513A>G),
4877548(c.127-479C>A),
4877891(c.127-136G>A),
4877924(c.127-103A>T),
4877973(c.127-54G>A),
4878009(c.127-18A>G),
4878175(c.232+43T>C),
4878304(c.232+172T>C),
4878314(c.232+182C>T),
4878365(c.232+233G>T),
4878549(c.232+417T>G),
4878589(c.232+457T>A),
4878600(c.232+468A>G),
4880998(c.232+2866A>T),
4881124(c.232+2992C>T),
4881172(c.232+3040G>A),
4881235(c.232+3103A>C),
4881820(c.232+3688A>C),
4881869(c.232+3737A>G),
4881878(c.232+3746C>T),
4881926(c.232+3794G>C),
4881933(c.232+3801T>C),
4881946(c.232+3814A>G),
4882059(c.232+3927T>C),
4882215(c.232+4083A>G),
4882308(c.232+4176T>G),
4882346(c.232+4214C>A),
4882775(c.233-3969G>A),
4882830(c.233-3914G>A),
4882864(c.233-3880T>C),
4882956(c.233-3788T>C),
4883024(c.233-3720T>C),
4883497(c.233-3247A>G),
4883534(c.233-3210C>T),
4883628(c.233-3116C>T),
4883630(c.233-3114T>G),
4883687(c.233-3057G>A),
4883763(c.233-2981G>A),
4883797(c.233-2947C>T),
4883821(c.233-2923C>T),
4884134(c.233-2610C>T),
4884314(c.233-2430C>T),
4884398(c.233-2346G>T),
4884472(c.233-2272G>A),
4884630(c.233-2114C>T),
4884669(c.233-2075A>G),
4884857(c.233-1887T>C),
4884989(c.233-1755T>C),
4885009(c.233-1735T>C),
4885010(c.233-1734T>C),
4885036(c.233-1708C>T),
4885082(c.233-1662A>T),
4885125(c.233-1619G>A),
4885346(c.233-1398A>T),
4885381(c.233-1363C>T),
4885486(c.233-1258G>A),
4885539(c.233-1205G>A),
4885572(c.233-1172C>G),
4885694(c.233-1050A>T),
4885718(c.233-1026G>A),
4885802(c.233-942G>A),
4885905(c.233-839G>A),
4885937(c.233-807T>C),
4885938(c.233-806C>T),
4885950(c.233-794A>G),
4886067(c.233-677C>T),
4886339(c.233-405G>A),
4886421(c.233-323C>T),
4886429(c.233-315G>A),
4886544(c.233-200A>G),
4886573(c.233-171T>C),
4886651(c.233-93C>T),
4886679(c.233-65C>T),
4886886(c.320+55C>T),
4887065(c.320+234C>A),
4887107(c.320+276A>C),
4887488(c.320+657G>A),
4887527(c.320+696T>A),
4887589(c.320+758A>G),
4887737(c.320+906A>G),
4887807(c.320+976T>G),
4887984(c.320+1153T>C),
4888092(c.320+1261C>T),
4888116(c.320+1285T>A),
4888122(c.320+1291T>C),
4888129(c.320+1298T>C),
4888147(c.321-1310A>G),
4888351(c.321-1106C>T),
4888362(c.321-1095T>C),
4888529(c.321-928A>G),
4888553(c.321-904T>G),
4888613(c.321-844T>C),
4888645(c.321-812T>G),
4888688(c.321-769T>A),
4888759(c.321-698A>C),
4888843(c.321-614G>A),
4889078(c.321-379G>T),
4889123(c.321-334T>G),
4889132(c.321-325G>A),
4889388(c.321-69C>A),
4889422(c.321-35C>T),
4889827(c.466+225C>G),
4889866(c.466+264G>A),
4889909(c.466+307A>T),
4889962(c.466+360T>G),
4890037(c.466+435C>T),
4890085(c.466+483C>T),
4890146(c.466+544A>G),
4890291(c.467-449T>C),
4890532(c.467-208T>C),
4890557(c.467-183C>T),
4890693(c.467-47G>A),
4890830(c.523+34G>A),
4891114(c.523+318C>T),
4891135(c.523+339G>A),
4891261(c.523+465A>G),
4891306(c.523+510A>C),
4891436(c.524-479T>C),
4891511(c.524-404A>G),
4891576(c.524-339C>T),
4891717(c.524-198T>C),
4891728(c.524-187A>C),
4891785(c.524-130T>A),
4891793(c.524-122C>T),
4892085(c.678+16T>C),
4892087(c.678+18T>C),
4892093(c.678+24T>C),
4892101(c.678+32A>G),
4892127(c.678+58A>G),
4892142(c.678+73A>C),
4892187(c.678+118A>T),
4892363(c.678+294C>T),
4892504(c.678+435G>A),
4892555(c.678+486C>T),
4892619(c.678+550G>A),
4892621(c.678+552G>A),
4892625(c.678+556C>T),
4892879(c.679-538C>G),
4892905(c.679-512G>A),
4892918(c.679-499A>G),
4893095(c.679-322C>T),
4893614(c.825+51G>C),
4893941(c.825+378A>G),
4894667(c.826-267C>G),
4894796(c.826-138C>G),
4895096(c.897+91A>G),
4895124(c.897+119C>G),
4895228(c.897+223C>T),
4895392(c.897+387A>G),
4895431(c.897+426A>G),
4895450(c.897+445T>C),
4895517(c.897+512A>G),
4895699(c.898-657G>A),
4896185(c.898-171G>T),
4896221(c.898-135G>A),
+1kb
4897998(c.*1634T>G),
4898167(c.*1803T>G),
4898185(c.*1821G>C),
4898269(c.*1905T>A),
4898464(c.*2100A>G),
4898483(c.*2119A>G),
4898493(c.*2129T>G),
4898506(c.*2142A>C),
4898532(c.*2168T>C),
4898538(c.*2174T>C),
4898742(c.*2378T>C),
4898936(c.*2572T>C),
4899011(c.*2647G>C),
4899277(c.*2913T>C),
4899662(c.*3298C>T),
4899703(c.*3339G>A),
4899720(c.*3356T>G),
4900015(c.*3651G>A),
4900066(c.*3702G>A),
4900156(c.*3792C>T),
4900348(c.*3984C>T),
4900416(c.*4052T>C),
4900954(c.*4590T>C),
4901025(c.*4661C>T),
4901095(c.*4731T>C),
4901150(c.*4786G>C),
4901272(c.*4908T>C),
4901333(c.*4969T>C),
4901436(c.*5072A>G),
4901637(c.*5273T>C),
4901763(c.*5399A>G),
4901942(c.*5578G>C),
|
Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
4859195 (c.63+1219_63+1220insTA),
4859793 (c.63+1818_63+1821dupTAAA),
4862114 (c.63+4138_63+4139insA),
4862117 (c.63+4141_63+4142insTAC),
4862363 (c.63+4389_63+4390insGTCA),
4864569 (c.64-2900dupT),
4865922 (c.64-1546_64-1545dupTA),
4865925 (c.64-1546_64-1545dupTA),
4867144 (c.64-325_64-324insTTT),
4867852 (c.126+320_126+321insTTT),
4868319 (c.126+787_126+788insGG),
4870545 (c.126+3016_126+3017insGGATGA),
4872565 (c.126+5033_126+5034dupTT),
4875100 (c.127-2927dupT),
4875646 (c.127-2381_127-2380insATTTCTA),
4876304 (c.127-1721_127-1720insTGGTATA),
4879019 (c.232+888_232+889insCCTCAGG),
4883306 (c.233-3438_233-3437insC),
4885173 (c.233-1570_233-1569insGTTG),
4885508 (c.233-1236_233-1235insA),
4888267 (c.321-1183dupT),
4891488 (c.524-427_524-426insT),
4892518 (c.678+449_678+450insT),
+1kb
|
Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
4858033 (c.63+64_63+67delTCAG),
4858983 (c.63+1008_63+1011delTTTA),
4860613 (c.63+2638_63+2639delTT),
4860794 (c.63+2829_63+2830delTT),
4861006 (c.63+3033delT),
4861348 (c.63+3373delG),
4861409 (c.63+3442_63+3445delTTCT),
4861417 (c.63+3442_63+3445delTTCT),
4865013 (c.64-2455_64-2454delCC),
4865608 (c.64-1859delA),
4866027 (c.64-1442_64-1439delAGGC),
4867091 (c.64-378delT),
4867298 (c.64-171delT),
4867618 (c.126+91_126+94delAACT),
4868488 (c.126+962_126+965delCTAA),
4868648 (c.126+1120_126+1122delGTT),
4870935 (c.126+3404_126+3405delCA),
4871138 (c.126+3619delT),
4872331 (c.126+4811_126+4812delAA),
4872490 (c.126+4959_126+4960delCC),
4872525 (c.126+4994_126+4995delAA),
4872626 (c.126+5095_126+5108delAATACAATAATACA),
4874324 (c.127-3690_127-3686delTTTTT),
4875199 (c.127-2827_127-2820delGTTTTGTG),
4875989 (c.127-2037_127-2035delTTC),
4877914 (c.127-111delG),
4878333 (c.232+203_232+204delTT),
4882104 (c.232+3978delT),
4882259 (c.232+4136_232+4137delTT),
4882709 (c.233-4030_233-4027delTATC),
4883730 (c.233-3013_233-3007delACTTTAC),
4885048 (c.233-1695_233-1694delTT),
4885639 (c.233-1097_233-1096delTT),
4885859 (c.233-881_233-880delAT),
4887199 (c.320+373_320+374delTT),
4887398 (c.320+576_320+577delAA),
4888625 (c.321-823_321-821delTTT),
4892924 (c.679-488_679-486delAAC),
4893766 (c.825+207_825+209delGTT),
4893973 (c.825+422delT),
+1kb
|
coding sequence substitutions |
premature termination by the nucleotide substitution | 0 |
synonymous num | 3 |
non-synonymous num | 0 |
synonymous substitutions |
4878056 (p.Ala52Ala),
4892007 (p.Leu206Leu),
4892045 (p.Asp218Asp),
|
non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000081551)
|
MEDEVVRIAKKMDKMVQKKNAAGALDLLKELKNIPMTLELLQSTRIGMSVNALRKQSTDE
EVTSLAKSLIKSWKKLLDGPSTDKDPEEKKKEPAISSQNSPEAREESSSSSNVSSRKDET
NARDTYVSSFPRAPSTSDSVRLKCREMLAAALRTGDDYVAIGADEEELGSQIEEAIYQEI
RNTDMKYKNRVRSRISNLKDAKNPNLRKNVLCGNIPPDLFARMTAEEMASDELKEMRKNL
TKEAIREHQMAKTGGTQTDLFTCGKCKKKNCTYTQVQTRSADEPMTTFVVCNECGNRWKF
C*
|
MSMv4 transcript
|
MEDEVVRIAKKMDKMVQKKNAAGALDLLKELKNIPMTLELLQSTRIGMSVNALRKQSTDE
EVTSLAKSLIKSWKKLLDGPSTDKDPEEKKKEPAISSQNSPEAREESSSSSNVSSRKDET
NARDTYVSSFPRAPSTSDSVRLKCREMLAAALRTGDDYVAIGADEEELGSQIEEAIYQEI
RNTDMKYKNRVRSRISNLKDAKNPNLRKNVLCGNIPPDLFARMTAEEMASDELKEMRKNL
TKEAIREHQMAKTGGTQTDLFTCGKCKKKNCTYTQVQTRSADEPMTTFVVCNECGNRWKF
C*
|
homology | 100.00 (302 / 302) |
|