| Reports |
| substitution |
| cSNPs | 0 |
| Insertion | 21 |
| Deletion | 45 |
| SNPs |
-1kb
54499115(c.-4761A>G),
54499207(c.-4669A>G),
54499312(c.-4564C>T),
54499313(c.-4563A>G),
54499407(c.-4469G>A),
54499742(c.-4134G>A),
54499839(c.-4037C>T),
54499840(c.-4036A>G),
54499929(c.-3947T>C),
54500082(c.-3794T>C),
54500470(c.-3406C>T),
54500602(c.-3274C>T),
54501263(c.-2613C>T),
54501400(c.-2476T>C),
54501425(c.-2451T>G),
54501711(c.-2165G>A),
54501768(c.-2108A>G),
54502223(c.-1653T>A),
54502256(c.-1620G>T),
54502257(c.-1619T>G),
54502527(c.-1349A>G),
54502534(c.-1342G>C),
54502703(c.-1173T>C),
54502735(c.-1141G>A),
54503060(c.-816T>C),
54503110(c.-766C>T),
54503778(c.-98T>G),
5'UTR
CDS
3'UTR
INTRON
54504390(c.129+386A>G),
54504769(c.129+765G>A),
54504802(c.129+798G>A),
54504808(c.129+804A>G),
54504812(c.129+808C>G),
54504813(c.129+809A>T),
54504877(c.129+873C>T),
54505028(c.129+1024G>A),
54505165(c.129+1161G>A),
54505174(c.129+1170C>G),
54505277(c.129+1273T>C),
54505280(c.129+1276G>C),
54505431(c.129+1427T>C),
54505648(c.129+1644G>A),
54506161(c.129+2157G>A),
54506292(c.129+2288A>G),
54506316(c.129+2312G>A),
54506394(c.129+2390T>C),
54506407(c.129+2403G>T),
54506425(c.129+2421C>G),
54506470(c.129+2466G>A),
54507178(c.129+3174A>G),
54507369(c.129+3365A>G),
54507370(c.129+3366T>C),
54507373(c.129+3369A>T),
54507383(c.129+3379T>G),
54507472(c.129+3468A>G),
54507583(c.129+3579A>G),
54507763(c.129+3759A>G),
54507886(c.129+3882A>G),
54507961(c.129+3957A>G),
54508690(c.129+4686T>C),
54508852(c.129+4848G>A),
54508857(c.129+4853T>C),
54508999(c.129+4995C>A),
54509087(c.129+5083T>C),
54509185(c.129+5181C>G),
54509385(c.129+5381G>T),
54509406(c.129+5402G>T),
54509428(c.129+5424A>C),
54509465(c.129+5461C>T),
54509577(c.129+5573A>T),
54509603(c.129+5599C>T),
54509631(c.129+5627A>G),
54509834(c.129+5830T>A),
54509958(c.129+5954A>G),
54510000(c.129+5996G>T),
54510014(c.129+6010G>A),
54510072(c.129+6068A>G),
54510102(c.129+6098G>T),
54510116(c.129+6112A>G),
54510147(c.129+6143T>C),
54510160(c.129+6156G>A),
54510162(c.129+6158G>A),
54510206(c.129+6202T>C),
54510273(c.129+6269C>A),
54510426(c.129+6422C>T),
54510766(c.129+6762G>T),
54510883(c.129+6879A>T),
54510939(c.129+6935C>T),
54511338(c.129+7334A>G),
54511355(c.129+7351A>G),
54511406(c.129+7402G>A),
54511468(c.129+7464T>C),
54511496(c.129+7492C>T),
54511497(c.129+7493C>A),
54511596(c.129+7592A>G),
54511798(c.129+7794C>G),
54511807(c.129+7803G>A),
54511946(c.129+7942C>T),
54512043(c.129+8039C>T),
54512054(c.129+8050C>T),
54512757(c.129+8753T>C),
54512791(c.129+8787G>A),
54513002(c.129+8998C>A),
54513124(c.129+9120G>A),
54513692(c.129+9688A>T),
54513823(c.129+9819C>T),
54514266(c.129+10262A>G),
54515134(c.129+11130C>T),
54515142(c.129+11138C>T),
54515240(c.129+11236G>A),
54515500(c.129+11496G>A),
54516002(c.129+11998A>G),
54516712(c.129+12708G>A),
54517168(c.129+13164T>A),
54518378(c.129+14374T>C),
54518492(c.129+14488G>T),
54518745(c.129+14741T>A),
54518842(c.129+14838A>G),
54519073(c.129+15069T>C),
54519182(c.129+15178T>G),
54519232(c.129+15228G>A),
54519336(c.129+15332A>G),
54519362(c.129+15358A>G),
54519587(c.129+15583G>A),
54519588(c.129+15584C>G),
54519874(c.129+15870G>A),
54520040(c.129+16036C>A),
54520145(c.129+16141C>T),
54520270(c.129+16266T>G),
54520976(c.130-16106T>C),
54521203(c.130-15879T>C),
54521393(c.130-15689G>T),
54521492(c.130-15590T>C),
54522136(c.130-14946A>G),
54522190(c.130-14892G>T),
54522526(c.130-14556A>G),
54522803(c.130-14279A>C),
54522877(c.130-14205G>A),
54523305(c.130-13777C>T),
54523454(c.130-13628C>T),
54523519(c.130-13563T>C),
54523520(c.130-13562G>T),
54523521(c.130-13561C>T),
54523597(c.130-13485C>G),
54523709(c.130-13373G>A),
54523805(c.130-13277T>C),
54524330(c.130-12752A>G),
54524985(c.130-12097C>T),
54525014(c.130-12068C>T),
54525017(c.130-12065G>A),
54525021(c.130-12061G>A),
54525132(c.130-11950T>C),
54525195(c.130-11887C>T),
54525203(c.130-11879C>T),
54525209(c.130-11873G>A),
54525214(c.130-11868G>A),
54525227(c.130-11855G>A),
54525228(c.130-11854G>A),
54525231(c.130-11851G>A),
54525235(c.130-11847A>G),
54525249(c.130-11833G>A),
54525571(c.130-11511G>A),
54525756(c.130-11326C>A),
54525786(c.130-11296C>T),
54526281(c.130-10801C>T),
54526500(c.130-10582G>A),
54526928(c.130-10154G>C),
54526939(c.130-10143T>G),
54527221(c.130-9861C>T),
54527538(c.130-9544A>G),
54527950(c.130-9132G>C),
54527976(c.130-9106A>T),
54530054(c.130-7028A>G),
54530417(c.130-6665A>G),
54530689(c.130-6393A>G),
54531594(c.130-5488G>C),
54531695(c.130-5387T>C),
54532137(c.130-4945A>G),
54532151(c.130-4931T>C),
54532248(c.130-4834G>A),
54532254(c.130-4828T>C),
54533337(c.130-3745C>T),
54533338(c.130-3744A>C),
54533516(c.130-3566A>G),
54533631(c.130-3451G>A),
54533681(c.130-3401C>T),
54533781(c.130-3301A>C),
54533964(c.130-3118G>A),
54534294(c.130-2788G>C),
54534333(c.130-2749G>A),
54534403(c.130-2679T>G),
54534452(c.130-2630T>G),
54534583(c.130-2499C>T),
54534765(c.130-2317C>A),
54535565(c.130-1517G>C),
54535585(c.130-1497C>T),
54536005(c.130-1077G>A),
54536051(c.130-1031T>C),
54536564(c.130-518T>C),
54536580(c.130-502C>T),
54536633(c.130-449C>T),
54536733(c.130-349C>T),
54536816(c.130-266C>A),
54536919(c.130-163C>A),
54537008(c.130-74G>T),
54537372(c.284+136T>C),
54537487(c.284+251C>G),
54537623(c.284+387T>A),
54537655(c.284+419G>A),
54537719(c.284+483G>A),
54537792(c.284+556G>T),
54537926(c.284+690G>A),
54537985(c.284+749C>A),
54538035(c.284+799C>T),
54538068(c.284+832C>T),
54538140(c.284+904A>G),
54538149(c.284+913T>C),
54538161(c.284+925C>T),
54538199(c.284+963T>G),
54538287(c.284+1051A>G),
54538731(c.285-973G>T),
54539180(c.285-524A>G),
54539205(c.285-499T>C),
54539224(c.285-480T>G),
54539364(c.285-340G>A),
54539418(c.285-286C>T),
54539461(c.285-243C>T),
54539525(c.285-179C>T),
+1kb
54539896(c.*39A>G),
54539953(c.*96A>C),
54539984(c.*127A>G),
54540248(c.*391G>A),
54541094(c.*1237T>C),
54541143(c.*1286G>C),
54541953(c.*2096A>G),
54542477(c.*2620T>G),
54542523(c.*2666A>G),
54542589(c.*2732A>T),
54542603(c.*2746T>C),
54542665(c.*2808T>C),
54542732(c.*2875C>T),
54542772(c.*2915G>A),
54542960(c.*3103C>T),
54542961(c.*3104A>G),
54542990(c.*3133A>G),
54543138(c.*3281T>G),
54543307(c.*3450G>A),
54543465(c.*3608C>G),
54543590(c.*3733C>T),
54543668(c.*3811T>G),
54544001(c.*4144A>G),
54544117(c.*4260T>C),
|
| Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
54505113 (c.129+1109_129+1110insA),
54506454 (c.129+2451_129+2452insCT),
54506736 (c.129+2732_129+2733insGATCCA),
54507499 (c.129+3495_129+3496insTTC),
54508192 (c.129+4195dupT),
54508811 (c.129+4807_129+4808insAA),
54509586 (c.129+5582_129+5583dupTT),
54511005 (c.129+7003_129+7004insGGCTCA),
54518631 (c.129+14632_129+14633insAAGAGA),
54520617 (c.130-16450_130-16447dupCAAA),
54521117 (c.130-15963dupT),
54531978 (c.130-5103_130-5102insTGGA),
54534153 (c.130-2929_130-2928insCC),
54535168 (c.130-1906dupG),
54537330 (c.284+93_284+94dupTG),
+1kb
|
| Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
54504314 (c.129+316delG),
54504760 (c.129+758delC),
54507237 (c.129+3234delA),
54507268 (c.129+3268delG),
54507271 (c.129+3268delG),
54507744 (c.129+3751_129+3753delAAA),
54509514 (c.129+5511delA),
54509620 (c.129+5617_129+5620delTATA),
54509789 (c.129+5786delT),
54509845 (c.129+5842_129+5844delAGG),
54510103 (c.129+6100delG),
54510166 (c.129+6163delA),
54510387 (c.129+6385delA),
54511999 (c.129+8008_129+8010delAAA),
54513959 (c.129+9963_129+9964delTT),
54514243 (c.129+10251delA),
54519662 (c.129+15661_129+15668delGTAATGGT),
54521616 (c.130-15465delT),
54521653 (c.130-15424_130-15423delAC),
54521657 (c.130-15424_130-15423delAC),
54523671 (c.130-13410delG),
54523683 (c.130-13398_130-13397delGG),
54523721 (c.130-13352delA),
54530032 (c.130-7040delA),
54530621 (c.130-6454delG),
54530627 (c.130-6454delG),
54530663 (c.130-6418_130-6413delCTTCTT),
54531557 (c.130-5516_130-5511delGCTTGG),
54533052 (c.130-4029_130-4022delACATACAT),
54534097 (c.130-2984_130-2974delACTCTTCCCCC),
54534953 (c.130-2120_130-2119delAA),
54536238 (c.130-843_130-839delCACAG),
54536275 (c.130-806_130-801delCACAGT),
54537353 (c.284+126_284+129delAGAG),
54537361 (c.284+126_284+129delAGAG),
54537810 (c.284+584_284+589delTATATA),
+1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 0 |
| non-synonymous num | 0 |
| synonymous substitutions |
|
| non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000159721)
|
MEDFIVISDDSGSESSAGTRSGRARRLRRALSRTPGALPRRTVGQTLPGRVLFLRYVVQT
LEDDFQQILRRQRQHLQQSIANTVLSCDKQPHNVRDVIKWLVKAVTENELTPPQDETQTS
PRTGVLKTSSDHLSPRPNQNKNTNQL
|
|
MSMv4 transcript
|
MEDFIVISDDSGSESSAGTRSGRARRLRRALSRTPGALPRRTVGQTLPGRVLFLRYVVQT
LEDDFQQILRRQRQHLQQSIANTVLSCDKQPHNVRDVIKWLVKAVTENELTPPQDETQTS
PRTGVLKTSSDHLSPRPNQNKNTNQL
|
| homology | 100.00 (146 / 146) |
|