| Reports |
| substitution |
| cSNPs | 5 |
| Insertion | 31 |
| Deletion | 44 |
| SNPs |
-1kb
40676638(c.-5236T>C),
40676938(c.-4936G>A),
40677180(c.-4694T>C),
40677183(c.-4691A>T),
40677205(c.-4669A>C),
40677253(c.-4621T>C),
40677274(c.-4600A>C),
40677300(c.-4574A>C),
40677437(c.-4437C>A),
40677483(c.-4391G>A),
40677489(c.-4385G>T),
40677546(c.-4328G>A),
40677548(c.-4326T>C),
40677580(c.-4294A>G),
40677786(c.-4088T>G),
40677910(c.-3964G>A),
40677980(c.-3894A>G),
40678191(c.-3683G>A),
40678198(c.-3676G>A),
40678396(c.-3478T>C),
40678461(c.-3413G>A),
40678542(c.-3332T>C),
40678563(c.-3311T>C),
40678564(c.-3310G>A),
40678567(c.-3307T>C),
40678568(c.-3306T>C),
40678673(c.-3201G>C),
40678679(c.-3195A>G),
40678681(c.-3193T>C),
40678729(c.-3145C>T),
40678738(c.-3136C>T),
40678739(c.-3135A>G),
40678893(c.-2981A>T),
40678899(c.-2975A>G),
40678909(c.-2965C>T),
40679034(c.-2840G>A),
40679038(c.-2836T>C),
40679241(c.-2633T>G),
40679455(c.-2419A>C),
40679817(c.-2057C>T),
40679825(c.-2049C>T),
40679894(c.-1980T>C),
40680052(c.-1822T>A),
40680125(c.-1749T>C),
40680148(c.-1726T>A),
40680285(c.-1589C>T),
40680498(c.-1376T>C),
40680503(c.-1371C>T),
40680745(c.-1129C>T),
40681103(c.-771C>T),
40681141(c.-733A>G),
40681404(c.-470T>G),
5'UTR
CDS
3'UTR
INTRON
40682175(c.292+10T>C),
40682297(c.292+132G>C),
40682413(c.292+248G>A),
40682427(c.292+262G>C),
40682635(c.292+470C>T),
40682667(c.292+502C>T),
40682736(c.292+571A>C),
40682785(c.292+620A>G),
40682791(c.292+626T>C),
40683042(c.292+877T>G),
40683132(c.292+967A>G),
40683344(c.292+1179A>G),
40683633(c.292+1468G>A),
40683858(c.292+1693T>C),
40683895(c.292+1730C>T),
40683919(c.292+1754T>C),
40683930(c.292+1765A>G),
40683938(c.292+1773A>G),
40684230(c.292+2065T>C),
40684231(c.292+2066A>G),
40684324(c.292+2159C>T),
40684367(c.292+2202C>T),
40684573(c.292+2408C>T),
40684596(c.292+2431G>C),
40684602(c.292+2437T>A),
40684644(c.292+2479C>T),
40684695(c.292+2530C>T),
40684750(c.292+2585A>C),
40684751(c.292+2586G>A),
40684800(c.292+2635G>A),
40684950(c.292+2785T>C),
40684979(c.292+2814C>T),
40685017(c.292+2852C>T),
40685098(c.292+2933C>T),
40685208(c.292+3043A>G),
40685528(c.292+3363G>A),
40686115(c.292+3950C>T),
40686169(c.292+4004C>T),
40686489(c.292+4324A>G),
40686937(c.292+4772G>A),
40687215(c.292+5050C>T),
40687306(c.292+5141G>A),
40687341(c.292+5176C>T),
40687439(c.292+5274G>A),
40687703(c.292+5538G>T),
40687730(c.292+5565C>G),
40687739(c.292+5574G>A),
40687752(c.292+5587A>C),
40687846(c.292+5681G>A),
40688044(c.292+5879A>G),
40688276(c.292+6111A>G),
40688338(c.292+6173A>G),
40688346(c.292+6181G>A),
40688353(c.292+6188G>T),
40688550(c.292+6385T>C),
40688564(c.292+6399T>C),
40688886(c.292+6721C>T),
40688956(c.292+6791T>C),
40689096(c.292+6931A>C),
40689115(c.292+6950G>T),
40689135(c.292+6970G>A),
40689368(c.292+7203G>A),
40689625(c.292+7460C>T),
40689705(c.292+7540A>G),
40689953(c.292+7788T>C),
40689982(c.292+7817T>C),
40690102(c.292+7937G>A),
40690515(c.292+8350G>A),
40690560(c.292+8395C>T),
40690565(c.292+8400C>T),
40690650(c.292+8485T>A),
40690791(c.292+8626A>G),
40690899(c.292+8734G>A),
40690930(c.292+8765C>T),
40691093(c.292+8928G>A),
40691410(c.292+9245C>T),
40691469(c.292+9304A>G),
40691865(c.292+9700C>T),
40691967(c.292+9802A>G),
40692415(c.292+10250C>T),
40692695(c.292+10530T>C),
40692904(c.292+10739C>G),
40692908(c.292+10743G>A),
40692913(c.292+10748G>A),
40693329(c.292+11164A>T),
40693551(c.292+11386A>C),
40693589(c.292+11424G>A),
40693806(c.292+11641T>C),
40693811(c.292+11646G>A),
40693841(c.292+11676G>A),
40693866(c.292+11701A>G),
40693891(c.292+11726G>T),
40693920(c.292+11755C>T),
40693921(c.292+11756T>G),
40693965(c.292+11800T>C),
40694050(c.292+11885T>A),
40694298(c.292+12133G>A),
40694382(c.292+12217C>T),
40694390(c.292+12225C>T),
40694857(c.292+12692C>T),
40694927(c.292+12762G>T),
40694936(c.292+12771A>G),
40695001(c.292+12836A>G),
40695013(c.292+12848C>A),
40695129(c.292+12964A>C),
40695148(c.292+12983T>C),
40695986(c.292+13821G>A),
40695996(c.292+13831C>T),
40696062(c.292+13897A>G),
40696094(c.292+13929C>T),
40696163(c.292+13998A>T),
40696172(c.292+14007A>G),
40696238(c.292+14073T>C),
40696520(c.292+14355G>A),
40696615(c.292+14450C>T),
40696642(c.292+14477A>C),
40696686(c.292+14521A>C),
40696734(c.292+14569C>A),
40697103(c.292+14938G>A),
40697397(c.292+15232A>G),
40697408(c.292+15243G>T),
40697490(c.292+15325A>T),
40697626(c.292+15461G>A),
40697632(c.292+15467A>G),
40697655(c.292+15490T>A),
40702963(c.293-15632T>C),
40703079(c.293-15516A>G),
40703215(c.293-15380T>C),
40703221(c.293-15374A>G),
40703264(c.293-15331C>T),
40703280(c.293-15315T>C),
40703285(c.293-15310G>A),
40703464(c.293-15131G>A),
40703941(c.293-14654A>T),
40704155(c.293-14440C>T),
40704176(c.293-14419T>G),
40704305(c.293-14290C>T),
40704387(c.293-14208T>G),
40704649(c.293-13946C>G),
40704672(c.293-13923A>G),
40704768(c.293-13827G>A),
40704820(c.293-13775A>C),
40704914(c.293-13681G>A),
40705725(c.293-12870A>T),
40706061(c.293-12534A>T),
40706848(c.293-11747C>T),
40706915(c.293-11680C>A),
40706946(c.293-11649A>C),
40707088(c.293-11507T>C),
40708716(c.293-9879G>A),
40708805(c.293-9790G>A),
40708927(c.293-9668C>T),
40708942(c.293-9653A>T),
40709002(c.293-9593G>A),
40709003(c.293-9592G>A),
40709036(c.293-9559C>T),
40709045(c.293-9550G>A),
40709087(c.293-9508A>G),
40709119(c.293-9476A>G),
40709185(c.293-9410G>A),
40709283(c.293-9312C>T),
40709384(c.293-9211G>A),
40709440(c.293-9155T>C),
40709481(c.293-9114C>A),
40709550(c.293-9045A>T),
40709852(c.293-8743T>C),
40709862(c.293-8733G>T),
40709879(c.293-8716G>T),
40709929(c.293-8666A>C),
40710625(c.293-7970C>T),
40710643(c.293-7952C>T),
40711921(c.293-6674T>C),
40711944(c.293-6651T>C),
40712118(c.293-6477C>T),
40712199(c.293-6396C>T),
40712206(c.293-6389T>C),
40712231(c.293-6364A>G),
40712250(c.293-6345G>A),
40712282(c.293-6313T>A),
40712312(c.293-6283A>G),
40712395(c.293-6200G>T),
40712396(c.293-6199T>G),
40712463(c.293-6132G>A),
40712525(c.293-6070T>G),
40712537(c.293-6058C>A),
40712546(c.293-6049T>G),
40712625(c.293-5970C>G),
40712631(c.293-5964T>C),
40712683(c.293-5912C>T),
40712716(c.293-5879C>T),
40713158(c.293-5437A>C),
40713261(c.293-5334C>T),
40713312(c.293-5283T>C),
40713367(c.293-5228G>A),
40713376(c.293-5219C>T),
40713390(c.293-5205A>C),
40713478(c.293-5117A>G),
40713525(c.293-5070G>A),
40713710(c.293-4885A>T),
40713742(c.293-4853C>T),
40713750(c.293-4845A>G),
40713845(c.293-4750C>A),
40713857(c.293-4738C>T),
40714231(c.293-4364C>T),
40714381(c.293-4214G>A),
40714413(c.293-4182G>A),
40714488(c.293-4107T>C),
40714499(c.293-4096A>C),
40714671(c.293-3924T>C),
40714865(c.293-3730C>G),
40714911(c.293-3684T>C),
40715007(c.293-3588T>C),
40715020(c.293-3575C>A),
40715036(c.293-3559G>A),
40715077(c.293-3518T>C),
40715161(c.293-3434G>C),
40715240(c.293-3355T>C),
40715434(c.293-3161G>A),
40715440(c.293-3155G>A),
40715469(c.293-3126A>G),
40715510(c.293-3085C>T),
40715641(c.293-2954A>G),
40715718(c.293-2877C>T),
40715974(c.293-2621C>A),
40715982(c.293-2613C>G),
40715987(c.293-2608C>G),
40716019(c.293-2576G>T),
40716022(c.293-2573G>A),
40716064(c.293-2531G>C),
40716151(c.293-2444T>G),
40716157(c.293-2438C>A),
40716312(c.293-2283A>G),
40716316(c.293-2279T>C),
40716320(c.293-2275T>C),
40716467(c.293-2128G>A),
40716486(c.293-2109T>C),
40716547(c.293-2048T>C),
40716761(c.293-1834T>C),
40716819(c.293-1776T>G),
40716820(c.293-1775A>C),
40716943(c.293-1652G>C),
40716945(c.293-1650A>G),
40716946(c.293-1649C>A),
40717032(c.293-1563T>C),
40717047(c.293-1548T>C),
40717068(c.293-1527T>C),
40717209(c.293-1386T>C),
40717227(c.293-1368G>A),
40717308(c.293-1287T>C),
40717361(c.293-1234T>C),
40717362(c.293-1233G>T),
40717433(c.293-1162A>G),
40717494(c.293-1101T>A),
40717542(c.293-1053C>T),
40717552(c.293-1043A>G),
40717570(c.293-1025A>C),
40717618(c.293-977T>A),
40717625(c.293-970C>T),
40717651(c.293-944G>C),
40717681(c.293-914C>T),
40717687(c.293-908T>G),
40717704(c.293-891C>A),
40717715(c.293-880G>A),
40717729(c.293-866A>G),
40717797(c.293-798T>C),
40717863(c.293-732G>A),
40717876(c.293-719G>A),
40717903(c.293-692G>A),
40717974(c.293-621T>C),
40718101(c.293-494G>A),
40718140(c.293-455A>C),
40718192(c.293-403G>T),
40718286(c.293-309C>A),
40718565(c.293-30T>C),
40718570(c.293-25T>C),
40719086(c.756+28A>G),
40719135(c.756+77G>A),
40719154(c.756+96C>A),
40719156(c.756+98A>G),
40719275(c.756+217T>C),
40719666(c.756+608C>T),
40719699(c.756+641A>G),
40719902(c.756+844C>A),
40719934(c.756+876G>A),
40719947(c.756+889C>T),
40719951(c.756+893G>A),
40719971(c.756+913C>A),
40720168(c.756+1110C>A),
40720588(c.756+1530C>T),
40720601(c.756+1543G>A),
40720626(c.756+1568C>T),
40720643(c.756+1585G>A),
40720657(c.756+1599T>G),
40720666(c.756+1608T>G),
40720680(c.756+1622T>A),
40721050(c.756+1992G>A),
40721119(c.756+2061G>A),
40721145(c.756+2087C>T),
40721189(c.756+2131A>G),
40721216(c.756+2158G>C),
40721230(c.756+2172C>T),
40721274(c.756+2216A>G),
40721573(c.756+2515T>C),
40721774(c.756+2716G>A),
40721776(c.756+2718C>A),
40721868(c.756+2810T>C),
40722004(c.756+2946A>G),
40722057(c.756+2999C>G),
40722147(c.756+3089A>T),
40722170(c.756+3112G>A),
40722171(c.756+3113G>A),
40722251(c.756+3193A>G),
40722304(c.756+3246A>T),
40722355(c.756+3297C>T),
40722403(c.756+3345C>T),
40722418(c.756+3360A>G),
40722437(c.756+3379C>T),
40722478(c.756+3420T>G),
40722573(c.756+3515C>A),
40722582(c.756+3524T>G),
40722607(c.756+3549C>T),
40722632(c.756+3574G>T),
40722684(c.757-3524G>A),
40722781(c.757-3427C>G),
40722816(c.757-3392T>C),
40722849(c.757-3359G>A),
40722937(c.757-3271G>A),
40723008(c.757-3200A>G),
40723073(c.757-3135A>G),
40723175(c.757-3033T>G),
40723487(c.757-2721T>C),
40723562(c.757-2646A>G),
40723595(c.757-2613C>T),
40723700(c.757-2508C>G),
40723852(c.757-2356T>C),
40724031(c.757-2177G>C),
40724136(c.757-2072C>T),
40724203(c.757-2005A>C),
40724331(c.757-1877T>C),
40724336(c.757-1872T>G),
40724407(c.757-1801T>C),
40724415(c.757-1793T>C),
40724609(c.757-1599C>G),
40724675(c.757-1533C>T),
40725447(c.757-761T>C),
40725448(c.757-760T>C),
40725459(c.757-749G>A),
40725471(c.757-737T>C),
40725811(c.757-397C>A),
40725888(c.757-320T>G),
40726162(c.757-46A>G),
+1kb
40727703(c.*1241T>G),
40727810(c.*1348G>T),
40727929(c.*1467C>T),
40727978(c.*1516A>G),
40728074(c.*1612C>T),
40728083(c.*1621A>T),
40728097(c.*1635C>T),
40728181(c.*1719A>G),
40728194(c.*1732A>T),
40728203(c.*1741T>C),
40728314(c.*1852T>C),
40728396(c.*1934A>G),
40728441(c.*1979A>G),
40728459(c.*1997G>A),
40728708(c.*2246T>C),
40728714(c.*2252A>C),
40728717(c.*2255A>G),
40728737(c.*2275G>A),
40728744(c.*2282T>C),
40728853(c.*2391C>G),
40728916(c.*2454A>T),
40729240(c.*2778G>A),
40729245(c.*2783T>C),
40729538(c.*3076A>G),
40729544(c.*3082C>G),
40729586(c.*3124A>T),
40729870(c.*3408T>C),
40729959(c.*3497A>C),
40730017(c.*3555A>T),
40730294(c.*3832T>G),
40730375(c.*3913C>T),
40730385(c.*3923A>G),
40730488(c.*4026T>C),
40730525(c.*4063C>T),
40730531(c.*4069G>A),
40730541(c.*4079T>G),
40730579(c.*4117T>G),
40730744(c.*4282A>G),
40730748(c.*4286T>C),
40730884(c.*4422G>A),
40730887(c.*4425G>A),
40731164(c.*4702G>A),
40731317(c.*4855T>C),
40731568(c.*5106G>A),
40731592(c.*5130C>G),
40731655(c.*5193T>C),
40731814(c.*5352A>G),
40732061(c.*5599C>T),
40732065(c.*5603A>C),
40732115(c.*5653T>C),
40732127(c.*5665A>G),
40732153(c.*5691T>C),
40732163(c.*5701A>G),
40732188(c.*5726C>T),
40732199(c.*5737G>A),
40732200(c.*5738G>A),
40732256(c.*5794T>G),
40732257(c.*5795C>G),
40732546(c.*6084G>A),
40732561(c.*6099C>T),
|
| Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
40683886 (c.292+1721_292+1722insA),
40684455 (c.292+2295_292+2296dupAG),
40686764 (c.292+4604dupC),
40689842 (c.292+7677_292+7678insGGTATG),
40689975 (c.292+7810dupT),
40695299 (c.292+13139dupC),
40695304 (c.292+13139dupC),
40696026 (c.292+13862dupT),
40704019 (c.293-14566dupA),
40709845 (c.293-8750_293-8749insC),
40710078 (c.293-8511dupT),
40712160 (c.293-6435dupT),
40712235 (c.293-6355dupT),
40712241 (c.293-6354_293-6353insT),
40713742 (c.293-4853_293-4852insT),
40716240 (c.293-2354_293-2353dupTT),
40718007 (c.293-568_293-563dupCAACAA),
40719738 (c.756+681_756+682insCAAA),
40720150 (c.756+1092_756+1093insCAC),
40720540 (c.756+1483dupT),
40720546 (c.756+1488dupT),
40721246 (c.756+2191dupA),
40724034 (c.757-2171dupA),
40724479 (c.757-1721dupT),
40725435 (c.757-772_757-771insTG),
40725683 (c.757-520dupT),
+1kb
|
| Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
40685053 (c.292+2889_292+2890delAA),
40685648 (c.292+3490delA),
40686134 (c.292+3987_292+3992delTTATTA),
40688582 (c.292+6418_292+6427delACAGGATGAT),
40690018 (c.292+7854delG),
40690369 (c.292+8205_292+8206delAT),
40690634 (c.292+8481_292+8485delTTTTT),
40691592 (c.292+9433delT),
40692139 (c.292+9984_292+9986delTTG),
40693926 (c.292+11762delG),
40694731 (c.292+12571delT),
40696800 (c.292+14646delA),
40708136 (c.293-10448_293-10445delTTTT),
40708880 (c.293-9713_293-9712delAA),
40709057 (c.293-9533_293-9530delTGAT),
40709456 (c.293-9135delT),
40710449 (c.293-8138_293-8137delAA),
40711532 (c.293-7058_293-7056delTGT),
40713054 (c.293-5540_293-5532delTTAATCTTA),
40716820 (c.293-1774_293-1773delTT),
40716946 (c.293-1648delT),
40717475 (c.293-1118_293-1112delGTTTTGT),
40717716 (c.293-877_293-873delGGGAT),
40718520 (c.293-73delC),
40719471 (c.756+418delG),
40719846 (c.756+789delA),
40720480 (c.756+1423_756+1428delAGCTGA),
40720644 (c.756+1621_756+1622delTT),
40721025 (c.756+1970delA),
40725127 (c.757-1079_757-1072delGGTGGAAA),
40725269 (c.757-937delA),
+1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 5 |
| non-synonymous num | 0 |
| synonymous substitutions |
40718665 (p.Leu121Leu),
40718893 (p.Ala197Ala),
40718947 (p.Ile215Ile),
40719001 (p.Asn233Asn),
40726348 (p.Phe299Phe),
|
| non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000192345)
|
MGPRGTAHSVRAPLSWLLLLLLSLQVAVPAGALAETLLDAPRARGASSNPPSPASVVAPG
TTPFEESRLPVFTLDYPHVQIPFEITLWILLASLAKIGFHLYHKLPTIVPESCLLIMVGL
LLGGIIFGVDEKSPPAMKTDVFFLYLLPPIVLDAGYFMPTRPFFENFGTIFWYAVVGTLW
NSIGIGVSLFGICQIEAFGLSDITLLQNLLFGSLISAVDPVAVLAVFENIHVNEQLYILV
FGESLLNDAVTVVLYNLFKSFCQMKTIQTVDVFAGIANFFVVGIGGVLIGILLGFIAAFT
TRFTHNIRVIEPLFVFLYSYLSYITAEMFHLSGIMA*
|
|
MSMv4 transcript
|
MGPRGTAHSVRAPLSWLLLLLLSLQVAVPAGALAETLLDAPRARGASSNPPSPASVVAPG
TTPFEESRLPVFTLDYPHVQIPFEITLWILLASLAKIGFHLYHKLPTIVPESCLLIMVGL
LLGGIIFGVDEKSPPAMKTDVFFLYLLPPIVLDAGYFMPTRPFFENFGTIFWYAVVGTLW
NSIGIGVSLFGICQIEAFGLSDITLLQNLLFGSLISAVDPVAVLAVFENIHVNEQLYILV
FGESLLNDAVTVVLYNLFKSFCQMKTIQTVDVFAGIANFFVVGIGGVLIGILLGFIAAFT
TRFTHNIRVIEPLFVFLYSYLSYITAEMFHLSGIMA*
|
| homology | 100.00 (337 / 337) |
|