| Reports |
| substitution |
| cSNPs | 16 |
| Insertion | 31 |
| Deletion | 23 |
| SNPs |
+1kb
38036988(c.-4516A>C),
38037133(c.-4661G>A),
38037193(c.-4721G>A),
38037397(c.-4925G>C),
38038071(c.-5599A>T),
38038283(c.-5811C>A),
38038706(c.-6234G>A),
38038772(c.-6300G>C),
38039149(c.-6677C>A),
38039417(c.-6945A>G),
38039435(c.-6963A>G),
38039493(c.-7021A>G),
38039494(c.-7022C>T),
38039918(c.-7446C>T),
38040002(c.-7530G>A),
38040086(c.-7614G>C),
38040322(c.-7850G>C),
38040333(c.-7861A>C),
38040450(c.-7978G>A),
38040496(c.-8024G>C),
38040552(c.-8080A>G),
38040597(c.-8125T>C),
38040710(c.-8238C>G),
38040711(c.-8239C>T),
38040954(c.-8482T>C),
38040992(c.-8520T>C),
38041014(c.-8542A>G),
38041025(c.-8553A>C),
38041046(c.-8574T>C),
38041111(c.-8639C>T),
38041251(c.-8779A>C),
38041486(c.-9014T>C),
38041673(c.-9201C>A),
38041795(c.-9323A>G),
38041821(c.-9349G>T),
38041894(c.-9422G>A),
38041897(c.-9425C>G),
5'UTR
CDS
38006094(c.2545T>A),
38017387(c.1941T>C),
38019175(c.1912A>G),
38019224(c.1863G>A),
38019226(c.1861C>T),
38023308(c.878C>T),
38023370(c.816C>T),
38025301(c.699T>G),
38025423(c.577G>A),
38025514(c.486G>T),
38025540(c.460G>A),
38025593(c.407G>A),
38025616(c.384A>G),
38025622(c.378C>T),
38025657(c.343G>C),
38028137(c.162G>A),
3'UTR
INTRON
38006912(c.2466-739A>G),
38007071(c.2465+869A>T),
38007546(c.2465+394G>C),
38008818(c.2397-810C>G),
38008965(c.2397-957A>G),
38008986(c.2397-978T>C),
38009023(c.2397-1015G>A),
38009174(c.2397-1166A>T),
38009327(c.2397-1319C>T),
38010347(c.2396+1001G>A),
38010418(c.2396+930G>A),
38010441(c.2396+907C>T),
38010473(c.2396+875A>G),
38010793(c.2396+555T>A),
38010839(c.2396+509C>A),
38010966(c.2396+382C>T),
38011079(c.2396+269C>T),
38011595(c.2326-177A>C),
38011994(c.2325+398T>A),
38012182(c.2325+210G>A),
38012225(c.2325+167C>A),
38012575(c.2221-79G>A),
38013455(c.2221-959C>T),
38013659(c.2221-1163T>C),
38014013(c.2221-1517A>G),
38014059(c.2221-1563C>T),
38014568(c.2220+1112C>T),
38014660(c.2220+1020A>G),
38014701(c.2220+979T>C),
38014758(c.2220+922G>A),
38014795(c.2220+885T>C),
38014799(c.2220+881T>C),
38014844(c.2220+836T>C),
38014866(c.2220+814T>C),
38014878(c.2220+802C>T),
38014932(c.2220+748A>G),
38014939(c.2220+741C>G),
38015079(c.2220+601T>C),
38015137(c.2220+543T>C),
38015210(c.2220+470C>T),
38015231(c.2220+449G>A),
38015249(c.2220+431A>G),
38015289(c.2220+391C>A),
38015313(c.2220+367G>A),
38015315(c.2220+365A>G),
38015332(c.2220+348G>A),
38015402(c.2220+278C>T),
38015408(c.2220+272C>G),
38015495(c.2220+185G>A),
38015508(c.2220+172A>G),
38015518(c.2220+162G>A),
38015555(c.2220+125C>G),
38015601(c.2220+79T>C),
38015925(c.2113-138A>G),
38015936(c.2113-149A>G),
38015951(c.2113-164G>A),
38016111(c.2112+300T>C),
38016131(c.2112+280C>A),
38016290(c.2112+121T>G),
38016853(c.2032-362C>T),
38016942(c.2031+355G>A),
38016943(c.2031+354A>C),
38017225(c.2031+72C>T),
38017271(c.2031+26C>T),
38017667(c.1921-260C>G),
38017683(c.1921-276A>G),
38017695(c.1921-288A>C),
38017729(c.1921-322C>T),
38017797(c.1921-390G>C),
38017901(c.1921-494C>T),
38018106(c.1921-699A>G),
38018113(c.1921-706C>T),
38018152(c.1921-745C>T),
38018242(c.1921-835C>G),
38018430(c.1920+737G>A),
38018431(c.1920+736C>T),
38018432(c.1920+735G>T),
38018436(c.1920+731C>A),
38018463(c.1920+704C>A),
38018545(c.1920+622A>G),
38018561(c.1920+606A>G),
38018609(c.1920+558A>T),
38018860(c.1920+307G>A),
38018862(c.1920+305A>G),
38018882(c.1920+285C>T),
38018916(c.1920+251T>G),
38018931(c.1920+236A>C),
38019341(c.1774-28A>G),
38019358(c.1774-45G>A),
38019814(c.1774-501A>C),
38020024(c.1774-711C>A),
38020328(c.1774-1015T>G),
38020572(c.1774-1259A>T),
38020629(c.1774-1316T>C),
38020716(c.1774-1403T>C),
38020779(c.1774-1466G>C),
38020801(c.1774-1488G>A),
38020865(c.1773+1548T>A),
38020895(c.1773+1518T>A),
38020910(c.1773+1503C>T),
38021253(c.1773+1160T>G),
38021282(c.1773+1131T>A),
38021325(c.1773+1088G>A),
38021347(c.1773+1066C>T),
38021374(c.1773+1039A>G),
38021457(c.1773+956C>T),
38021466(c.1773+947A>T),
38021633(c.1773+780A>T),
38021685(c.1773+728T>A),
38022281(c.1773+132A>G),
38022349(c.1773+64G>A),
38023501(c.718-33G>A),
38023518(c.718-50C>T),
38023546(c.718-78T>C),
38023551(c.718-83G>T),
38023599(c.718-131G>T),
38023863(c.718-395A>G),
38024025(c.718-557G>A),
38024031(c.718-563T>C),
38024051(c.718-583G>A),
38024119(c.718-651G>A),
38024153(c.718-685T>C),
38024164(c.718-696G>A),
38024328(c.718-860G>C),
38024377(c.717+906G>A),
38024402(c.717+881T>C),
38024632(c.717+651T>C),
38024652(c.717+631T>C),
38024790(c.717+493A>G),
38024840(c.717+443A>G),
38024847(c.717+436T>C),
38024865(c.717+418C>T),
38024934(c.717+349C>A),
38025006(c.717+277A>G),
38025007(c.717+276C>T),
38025273(c.717+10G>T),
38025276(c.717+7T>C),
38025890(c.197-87A>G),
38025957(c.197-154A>G),
38025979(c.197-176A>G),
38026104(c.197-301T>A),
38026192(c.197-389A>T),
38026215(c.197-412A>G),
38026218(c.197-415T>G),
38026380(c.197-577A>G),
38026412(c.197-609A>G),
38026429(c.197-626T>G),
38026484(c.197-681A>G),
38026598(c.197-795T>C),
38026610(c.197-807A>T),
38026640(c.197-837C>G),
38026650(c.197-847G>T),
38026690(c.197-887A>C),
38026696(c.197-893A>G),
38026700(c.197-897A>C),
38026880(c.197-1077C>A),
38026909(c.197-1106T>C),
38027002(c.196+1101G>A),
38027009(c.196+1094C>T),
38027211(c.196+892C>A),
38027362(c.196+741T>G),
38027535(c.196+568A>T),
38027539(c.196+564C>T),
38027553(c.196+550G>A),
38027619(c.196+484A>T),
38027885(c.196+218C>A),
38028422(c.109-232T>C),
38028444(c.109-254G>A),
38028462(c.109-272G>A),
38028493(c.109-303G>C),
38028496(c.109-306T>C),
38028876(c.109-686T>G),
38029029(c.109-839T>C),
38029084(c.109-894G>A),
38029273(c.109-1083T>C),
38029322(c.109-1132T>C),
38029349(c.109-1159C>T),
38029352(c.109-1162C>T),
38029447(c.109-1257C>T),
38029576(c.109-1386T>C),
38029931(c.109-1741T>C),
38030624(c.108+1741C>T),
38030633(c.108+1732A>T),
38030649(c.108+1716C>T),
38030650(c.108+1715A>G),
38030652(c.108+1713C>G),
38030697(c.108+1668C>T),
38030721(c.108+1644T>A),
38030856(c.108+1509T>C),
38030863(c.108+1502G>C),
38030865(c.108+1500C>A),
38030891(c.108+1474T>A),
38030911(c.108+1454G>T),
38032675(c.-152-51A>T),
38032720(c.-152-96G>A),
38032743(c.-152-119C>A),
38032822(c.-152-198T>C),
38032890(c.-152-266T>C),
38033137(c.-152-513T>A),
38033272(c.-152-648G>A),
38033366(c.-152-742C>G),
38033367(c.-152-743C>A),
38033401(c.-152-777A>G),
38033616(c.-152-992A>G),
38033703(c.-152-1079G>A),
38033709(c.-152-1085A>G),
38033784(c.-152-1160A>G),
38033794(c.-152-1170C>T),
38033868(c.-152-1244G>A),
38033928(c.-152-1304G>A),
38033997(c.-152-1373C>T),
38034007(c.-152-1383G>A),
38034027(c.-152-1403T>A),
38034039(c.-152-1415G>C),
38034209(c.-152-1585C>T),
38034214(c.-152-1590A>G),
38035009(c.-153+1779G>T),
38035284(c.-153+1504C>T),
38035318(c.-153+1470C>G),
38035322(c.-153+1466A>G),
38035426(c.-153+1362G>A),
38035980(c.-153+808T>C),
38036377(c.-153+411G>A),
38036623(c.-153+165T>G),
-1kb
38001503(c.*4586T>C),
38001876(c.*4213G>T),
38001982(c.*4107T>C),
38001987(c.*4102A>G),
38002424(c.*3665A>G),
38002565(c.*3524C>T),
38002566(c.*3523T>G),
38003085(c.*3004G>A),
38003087(c.*3002G>T),
38003103(c.*2986A>G),
38003116(c.*2973C>T),
38004201(c.*1888G>A),
38004244(c.*1845C>G),
38005283(c.*806C>T),
38005286(c.*803C>G),
38005348(c.*741C>T),
38005431(c.*658T>A),
38005575(c.*514T>A),
38005779(c.*310G>A),
38005862(c.*227A>G),
38005915(c.*174A>G),
38005916(c.*173C>T),
38005918(c.*171C>T),
38005919(c.*170C>T),
38005982(c.*107G>A),
|
| Insertions |
+1kb
5'UTR
CDS
3'UTR
INTRON
38011140 (c.2396+207_2396+208insACACCA),
38011742 (c.2326-325dupT),
38011745 (c.2326-329_2326-328dupTT),
38016353 (c.2112+57_2112+58insG),
38017911 (c.1921-505dupA),
38018627 (c.1920+539_1920+540insC),
38019153 (c.1920+9_1920+13dupCAAAA),
38019547 (c.1774-235_1774-234insACATAA),
38020967 (c.1773+1445_1773+1446insA),
38020984 (c.1773+1428dupC),
38020990 (c.1773+1422_1773+1423insGTC),
38021868 (c.1773+544dupT),
38026224 (c.197-422_197-421insACTTC),
38028411 (c.109-222_109-221insT),
38028496 (c.109-307dupC),
38028499 (c.109-310_109-309insC),
38031009 (c.108+1354_108+1355dupCA),
38033416 (c.-152-793dupA),
38033421 (c.-152-798_-152-797insA),
38033501 (c.-152-878_-152-877insAAAC),
38034229 (c.-152-1606_-152-1605insG),
38034263 (c.-152-1641_-152-1640dupCT),
38035131 (c.-153+1656dupT),
38036153 (c.-153+634dupT),
-1kb
|
| Deletions |
+1kb
5'UTR
CDS
3'UTR
INTRON
38011431 (c.2326-14delA),
38011735 (c.2326-319_2326-318delTT),
38012907 (c.2221-412delA),
38013771 (c.2221-1278_2221-1276delTCG),
38015346 (c.2220+332_2220+333delCA),
38016145 (c.2112+265delT),
38016495 (c.2032-5delT),
38018456 (c.1920+709_1920+710delGC),
38020449 (c.1774-1142_1774-1137delATATGC),
38021386 (c.1773+1026delG),
38026174 (c.197-372delA),
38027742 (c.196+347_196+360delTACACCCTCCCCCC),
38029024 (c.109-835delC),
38030448 (c.108+1916delT),
38033517 (c.-152-895_-152-894delAT),
38036316 (c.-153+468_-153+471delAAAA),
38036708 (c.-153+78_-153+79delTT),
38036740 (c.-153+45_-153+47delTGT),
-1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 8 |
| non-synonymous num | 8 |
| synonymous substitutions |
38017387 (p.Ala647Ala),
38019224 (p.Pro621Pro),
38023370 (p.Leu272Leu),
38025301 (p.Ala233Ala),
38025514 (p.Ala162Ala),
38025616 (p.Val128Val),
38025622 (p.Ser126Ser),
38028137 (p.Glu54Glu),
|
| non-synonymous substitutions |
38006094 (p.Leu849Met),
38019175 (p.Thr638Ala),
38019226 (p.Pro621Ser),
38023308 (p.Ser293Phe),
38025423 (p.Val193Ile),
38025540 (p.Glu154Lys),
38025593 (p.Ser136Asn),
38025657 (p.Ala115Pro),
|
B6 transcript
(ENSMUST00000110233)
|
MSESETINVNGPSQDFSYSDSPFCMEASFSSSDLLQSETKNVKRGNESTHTFSEDIYSTE
GSLLGDINLGNYPESEQNQPANTRLSSLRQFEPICKFHWIEAFNDEMTVEDLRGAFSYSE
KPELPSQVYNDAADGSEKPDPFKEESSVESSISENKDELVPAPVRKSPRSLCLNYYRGEA
QPLTEAPFVRSAVVDVGLNISQPQSFLDKENVCKNGDNSSDRENCFEQLDLRAIYKAEEP
EVSSKEVQNSGEISELSVSHQEEVTEDGVDSLAITSPWSPAGIFKGSGPQDNSLRPDREV
SCEGLEPLEEDMALNEALQKLKQTNKKQELQIQDLHGKNLNLENRVQELQTKVTKQHVLV
DIINKLKVNIEELINDKYNVILEKNDINKKLQDLQEASAHTKKHLQESKKDKESLQLQVK
KIKVHYVRLQERYIAEIQQKNRSASQCLEIEKTLSKKDEELQRLQRHKGELEKATSSALD
LLKREKEIREQEFLSFQEEFQRREKESLKERRKLKSRVEKLVAQVKSLLFTCESERAQTM
ALQRQVEELKLENLELRQLAAKREAQACTPSFEITQSKEQLEEAVEPDITQETKGTHCNL
FLNRSSCKENLELQPLKKTSPLASGIHSLLALRIGLLTCQDLATPDAELCQESKKANDIM
LQRLKDCQLKKKDLDKELLKHKNRIATLKELIASEKALQAHTIEITDFDADEVKSARDAP
VLLAVKLDKYHSLNEELDVLITKLGGLLESKEDHYSRLIEENDKYRRHVGSLINKVTSYE
EIIKCADQRLEISHSQIAHLEERNRHLEDLIRMPREKAKRPRPRLDNHPKSLTLISHLEG
HHKECSISL*
|
|
MSMv4 transcript
|
MSESETINVNGPSQDFSYSDSPFCMEASFSSSDLLQSETKNVKRGNESTHTFSEDIYSTE
GSLLGDINLGNYPESEQNQPANTRLSSLRQFEPICKFHWIEAFNDEMTVEDLRGPFSYSE
KPELPSQVYNDAADGNEKPDPFKEESSVESSISKNKDELVPAPVRKSPRSLCLNYYRGEA
QPLTEAPFVRSAIVDVGLNISQPQSFLDKENVCKNGDNSSDRENCFEQLDLRAIYKAEEP
EVSSKEVQNSGEISELSVSHQEEVTEDGVDSLAITSPWSPAGIFKGSGPQDNFLRPDREV
SCEGLEPLEEDMALNEALQKLKQTNKKQELQIQDLHGKNLNLENRVQELQTKVTKQHVLV
DIINKLKVNIEELINDKYNVILEKNDINKKLQDLQEASAHTKKHLQESKKDKESLQLQVK
KIKVHYVRLQERYIAEIQQKNRSASQCLEIEKTLSKKDEELQRLQRHKGELEKATSSALD
LLKREKEIREQEFLSFQEEFQRREKESLKERRKLKSRVEKLVAQVKSLLFTCESERAQTM
ALQRQVEELKLENLELRQLAAKREAQACTPSFEITQSKEQLEEAVEPDITQETKGTHCNL
FLNRSSCKENLELQPLKKTSSLASGIHSLLALRIGLLACQDLATPDAELCQESKKANDIM
LQRLKDCQLKKKDLDKELLKHKNRIATLKELIASEKALQAHTIEITDFDADEVKSARDAP
VLLAVKLDKYHSLNEELDVLITKLGGLLESKEDHYSRLIEENDKYRRHVGSLINKVTSYE
EIIKCADQRLEISHSQIAHLEERNRHLEDLIRMPREKAKRPRPRLDNHPKSLTLISHLEG
HHKECSISM*
|
| homology | 99.06 (850 / 850) |
|