| Reports |
| substitution |
| cSNPs | 2 |
| Insertion | 25 |
| Deletion | 24 |
| SNPs |
-1kb
16100857(c.-5161G>T),
16100873(c.-5145G>A),
16100929(c.-5089G>A),
16100936(c.-5082G>A),
16101017(c.-5001C>T),
16101307(c.-4711A>G),
16101316(c.-4702C>G),
16101468(c.-4550T>C),
16101469(c.-4549G>A),
16101687(c.-4331G>A),
16102154(c.-3864G>A),
16102260(c.-3758T>C),
16102626(c.-3392G>C),
16102709(c.-3309C>T),
16103756(c.-2262G>A),
16103959(c.-2059C>T),
16104095(c.-1923C>T),
16104439(c.-1579C>G),
16104530(c.-1488G>T),
16104561(c.-1457T>C),
16104716(c.-1302G>C),
16104767(c.-1251G>A),
16105119(c.-899T>C),
16105156(c.-862T>A),
16105752(c.-266A>C),
5'UTR
CDS
3'UTR
16131431(c.*14C>T),
16131467(c.*50G>A),
16132166(c.*749C>G),
16132513(c.*1096T>C),
16132687(c.*1270C>G),
16132809(c.*1392G>T),
16132813(c.*1396T>G),
16132919(c.*1502T>G),
16132931(c.*1514T>C),
16132932(c.*1515T>C),
16132966(c.*1549T>C),
16132989(c.*1572G>T),
16133001(c.*1584T>C),
16133024(c.*1607T>G),
16133094(c.*1677G>T),
16133106(c.*1689C>T),
16133129(c.*1712G>T),
16133141(c.*1724T>C),
16133165(c.*1748C>T),
16133197(c.*1780T>G),
16133209(c.*1792C>T),
16133232(c.*1815G>T),
16133642(c.*2225T>C),
16133675(c.*2258T>G),
INTRON
16106348(c.289+42G>A),
16106455(c.289+149A>C),
16107189(c.290-606A>G),
16107309(c.290-486T>C),
16108099(c.525+69A>G),
16108100(c.525+70T>C),
16108116(c.525+86A>G),
16108123(c.525+93T>C),
16108175(c.525+145A>G),
16108192(c.525+162T>G),
16108203(c.525+173T>C),
16108209(c.525+179A>G),
16108485(c.525+455A>G),
16108783(c.525+753T>C),
16109286(c.525+1256C>T),
16109425(c.525+1395T>C),
16109593(c.525+1563T>C),
16109736(c.525+1706G>A),
16109901(c.525+1871T>C),
16109905(c.525+1875T>C),
16109919(c.525+1889G>C),
16110147(c.525+2117A>G),
16110481(c.525+2451T>C),
16110623(c.525+2593C>T),
16110624(c.525+2594T>C),
16110645(c.525+2615G>C),
16110780(c.525+2750G>A),
16110805(c.525+2775T>G),
16110920(c.525+2890A>G),
16111632(c.525+3602G>A),
16111743(c.525+3713A>G),
16111794(c.525+3764G>A),
16111862(c.525+3832A>G),
16112160(c.525+4130T>C),
16112196(c.525+4166C>T),
16112202(c.525+4172T>C),
16112239(c.525+4209T>C),
16112271(c.525+4241T>C),
16112287(c.525+4257T>G),
16112351(c.525+4321A>G),
16112416(c.525+4386C>A),
16112433(c.525+4403C>T),
16112685(c.525+4655C>T),
16113063(c.525+5033G>A),
16113335(c.525+5305C>A),
16113398(c.525+5368A>G),
16113510(c.525+5480G>A),
16113724(c.525+5694T>G),
16113745(c.525+5715T>C),
16113810(c.525+5780G>C),
16113856(c.525+5826T>C),
16114093(c.525+6063G>C),
16114167(c.525+6137A>G),
16114209(c.525+6179G>T),
16114341(c.525+6311G>A),
16114344(c.525+6314G>A),
16114515(c.525+6485T>C),
16114583(c.525+6553A>G),
16114591(c.525+6561G>A),
16114734(c.525+6704A>G),
16114759(c.525+6729C>T),
16114871(c.525+6841C>A),
16114874(c.525+6844T>C),
16114931(c.525+6901G>A),
16114962(c.525+6932C>T),
16115354(c.525+7324C>T),
16115369(c.525+7339C>T),
16115406(c.525+7376G>A),
16115553(c.525+7523G>C),
16115607(c.525+7577G>A),
16115748(c.525+7718G>A),
16116092(c.525+8062C>G),
16116239(c.525+8209C>T),
16116321(c.525+8291A>T),
16116345(c.525+8315A>C),
16116439(c.525+8409T>A),
16116688(c.525+8658A>C),
16116778(c.525+8748A>G),
16116785(c.525+8755T>C),
16117180(c.525+9150C>A),
16117184(c.525+9154G>C),
16117243(c.525+9213A>T),
16117338(c.525+9308A>G),
16117438(c.525+9408T>C),
16117667(c.525+9637C>A),
16117823(c.525+9793T>C),
16117939(c.525+9909C>G),
16117955(c.525+9925G>C),
16117974(c.525+9944A>G),
16117981(c.525+9951A>G),
16118020(c.525+9990A>G),
16118042(c.525+10012G>A),
16118568(c.526-9597G>A),
16118715(c.526-9450A>C),
16119141(c.526-9024G>A),
16119174(c.526-8991C>T),
16119454(c.526-8711C>G),
16119628(c.526-8537T>A),
16119657(c.526-8508G>A),
16119658(c.526-8507T>G),
16119743(c.526-8422A>C),
16120023(c.526-8142C>T),
16120202(c.526-7963A>C),
16120212(c.526-7953A>G),
16120999(c.526-7166A>C),
16121050(c.526-7115C>T),
16121068(c.526-7097A>G),
16121152(c.526-7013G>C),
16121983(c.526-6182C>T),
16121991(c.526-6174C>A),
16122145(c.526-6020G>T),
16122188(c.526-5977T>C),
16122268(c.526-5897G>A),
16122319(c.526-5846G>T),
16122384(c.526-5781C>G),
16122439(c.526-5726G>T),
16122523(c.526-5642A>C),
16122604(c.526-5561A>T),
16122916(c.526-5249A>G),
16123151(c.526-5014A>C),
16123413(c.526-4752T>A),
16123582(c.526-4583G>A),
16123747(c.526-4418T>A),
16123996(c.526-4169G>A),
16124169(c.526-3996G>C),
16124820(c.526-3345T>G),
16124971(c.526-3194T>C),
16124972(c.526-3193G>T),
16125053(c.526-3112C>T),
16125060(c.526-3105A>G),
16125087(c.526-3078C>T),
16125223(c.526-2942T>C),
16125271(c.526-2894T>C),
16125409(c.526-2756A>C),
16125486(c.526-2679C>T),
16125595(c.526-2570A>G),
16125801(c.526-2364T>C),
16125830(c.526-2335A>G),
16125872(c.526-2293A>G),
16125957(c.526-2208C>T),
16126016(c.526-2149A>G),
16126022(c.526-2143T>G),
16126163(c.526-2002C>T),
16126320(c.526-1845C>A),
16126725(c.526-1440G>C),
16126821(c.526-1344T>C),
16127013(c.526-1152A>T),
16127095(c.526-1070G>T),
16127117(c.526-1048G>A),
16127123(c.526-1042T>G),
16127150(c.526-1015A>G),
16127296(c.526-869A>G),
16127515(c.526-650A>G),
16127782(c.526-383G>A),
16127851(c.526-314T>A),
16127854(c.526-311G>A),
16128085(c.526-80G>T),
16128404(c.624+141C>T),
16128472(c.624+209A>G),
16128637(c.624+374C>T),
16128695(c.624+432T>C),
16128992(c.625-204T>C),
16129124(c.625-72A>G),
16129128(c.625-68G>A),
16129387(c.770+46A>G),
16129456(c.770+115T>C),
16129510(c.770+169A>G),
16129890(c.770+549A>G),
16129948(c.770+607T>C),
16129950(c.770+609T>C),
16130177(c.770+836T>G),
16130224(c.771-851C>A),
16130278(c.771-797C>G),
16130395(c.771-680A>G),
16130400(c.771-675T>G),
16130566(c.771-509G>C),
16130569(c.771-506G>A),
16130574(c.771-501A>G),
16130581(c.771-494T>G),
16130628(c.771-447A>G),
16131221(c.902+15G>T),
+1kb
16134273(c.*2856A>G),
16135006(c.*3589A>C),
16135319(c.*3902C>T),
16135429(c.*4012T>A),
16135466(c.*4049G>C),
16135859(c.*4442T>G),
16136035(c.*4618A>C),
16136105(c.*4688G>A),
16136128(c.*4711G>A),
16136308(c.*4891T>C),
16136362(c.*4945A>G),
16136648(c.*5231C>G),
16136661(c.*5244G>A),
16136744(c.*5327G>C),
16136782(c.*5365T>G),
16136811(c.*5394T>C),
16136953(c.*5536T>A),
16137178(c.*5761G>A),
16137301(c.*5884C>A),
16137509(c.*6092A>T),
16137517(c.*6100A>G),
16137594(c.*6177G>C),
16137753(c.*6336A>G),
16137754(c.*6337C>T),
16137761(c.*6344T>C),
16137810(c.*6393T>G),
16137831(c.*6414A>G),
16137899(c.*6482G>A),
16137913(c.*6496G>A),
16137953(c.*6536G>A),
16138013(c.*6596G>A),
16138152(c.*6735C>T),
16138179(c.*6762G>A),
16138180(c.*6763T>C),
16138260(c.*6843C>T),
16138282(c.*6865A>G),
16138315(c.*6898C>T),
16138410(c.*6993C>G),
16138430(c.*7013G>A),
16138484(c.*7067T>C),
16138633(c.*7216C>T),
16138636(c.*7219G>C),
16138697(c.*7280C>A),
16138715(c.*7298T>C),
|
| Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
16108529 (c.525+499_525+500insAGTA),
16109278 (c.525+1250_525+1251insTGT),
16111438 (c.525+3408_525+3409insACCA),
16112443 (c.525+4414_525+4416dupTGT),
16113736 (c.525+5709_525+5710insTCTTCT),
16115144 (c.525+7114_525+7115insTT),
16115531 (c.525+7502_525+7503insCC),
16118336 (c.526-9824_526-9821dupCTGT),
16122091 (c.526-6077_526-6074dupACAC),
16122109 (c.526-6056_526-6055insAC),
16122996 (c.526-5167_526-5166insCCCTGCGT),
16123388 (c.526-4775dupA),
16123783 (c.526-4382_526-4381insTCG),
16124787 (c.526-3377dupA),
16125909 (c.526-2254dupA),
16126259 (c.526-1907_526-1906dupTT),
16126433 (c.526-1729_526-1728insACCGTAGT),
16127456 (c.526-707_526-706insCAGCAGA),
16129522 (c.770+176_770+181dupGCAGGG),
16129955 (c.770+614_770+615insACCCC),
16130069 (c.770+728_770+729insTAT),
+1kb
|
| Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
16109235 (c.525+1206_525+1209delTTTA),
16109854 (c.525+1833_525+1834delAA),
16111462 (c.525+3433_525+3436delCCAC),
16111795 (c.525+3770_525+3771delTT),
16115382 (c.525+7353_525+7358delCGCCCG),
16115408 (c.525+7379delT),
16118819 (c.526-9341_526-9335delCATACAC),
16119355 (c.526-8805delC),
16121196 (c.526-6959_526-6958delAA),
16122298 (c.526-5865_526-5862delCAAA),
16126322 (c.526-1842delT),
16128114 (c.526-47_526-45delGAG),
16130278 (c.771-794delT),
16130842 (c.771-228delT),
+1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 2 |
| non-synonymous num | 0 |
| synonymous substitutions |
16131171 (p.Thr289Thr),
16131393 (p.Asn334Asn),
|
| non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000027053)
|
MNIVVEFFVVTFKVLWAFVLAAARWLVRPKEKSVAGQVCLITGAGSGLGRLFALEFARRR
ALLVLWDINTQSNEETAGMVRHIYRDLEAADAAALQAGKGEEEILPPCNLQVFTYTCDVG
KRENVYLTAERVRKEVGEVSVLVNNAGVVSGHHLLECPDELIERTMMVNCHAHFWTTKAF
LPTMLEINHGHIVTVASSLGLFSTAGVEDYCASKFGVVGFHESLSHELKAAEKDGIKTTL
VCPYLVDTGMFRGCRIRKEIEPFLPPLKPDYCVKQAMRAILTDQPMVCTPRLMYIVTFMK
SILPFEAVVCMYRFLGADKCMYPFIAQRKQATNNNEAKNGI*
|
|
MSMv4 transcript
|
MNIVVEFFVVTFKVLWAFVLAAARWLVRPKEKSVAGQVCLITGAGSGLGRLFALEFARRR
ALLVLWDINTQSNEETAGMVRHIYRDLEAADAAALQAGKGEEEILPPCNLQVFTYTCDVG
KRENVYLTAERVRKEVGEVSVLVNNAGVVSGHHLLECPDELIERTMMVNCHAHFWTTKAF
LPTMLEINHGHIVTVASSLGLFSTAGVEDYCASKFGVVGFHESLSHELKAAEKDGIKTTL
VCPYLVDTGMFRGCRIRKEIEPFLPPLKPDYCVKQAMRAILTDQPMVCTPRLMYIVTFMK
SILPFEAVVCMYRFLGADKCMYPFIAQRKQATNNNEAKNGI*
|
| homology | 100.00 (342 / 342) |
|