| Reports |
| substitution |
| cSNPs | 1 |
| Insertion | 20 |
| Deletion | 34 |
| SNPs |
+1kb
10038325(c.-513T>C),
10038490(c.-678A>G),
10038516(c.-704T>C),
10038517(c.-705C>T),
10038557(c.-745C>G),
10038783(c.-971C>A),
10038797(c.-985A>T),
10038886(c.-1074C>A),
10038935(c.-1123T>G),
10038986(c.-1174C>T),
10038994(c.-1182A>G),
10039009(c.-1197G>T),
10039152(c.-1340G>A),
10039181(c.-1369C>T),
10039359(c.-1547A>G),
10039456(c.-1644G>T),
10039555(c.-1743A>G),
10039587(c.-1775C>A),
10039626(c.-1814A>G),
10039712(c.-1900G>T),
10039825(c.-2013T>C),
10039840(c.-2028C>G),
10040262(c.-2450C>T),
10040330(c.-2518A>G),
10040357(c.-2545G>A),
10040400(c.-2588C>A),
10040527(c.-2715C>T),
10040529(c.-2717C>G),
10040575(c.-2763G>C),
10040625(c.-2813T>C),
10040716(c.-2904T>C),
10040891(c.-3079G>A),
10041050(c.-3238C>A),
10041220(c.-3408T>C),
10041313(c.-3501G>A),
10041491(c.-3679C>A),
10041532(c.-3720A>T),
10042128(c.-4316G>A),
10042129(c.-4317G>A),
10042330(c.-4518A>G),
10042372(c.-4560T>C),
10042379(c.-4567A>T),
10042387(c.-4575G>A),
10042778(c.-4966T>A),
10042798(c.-4986G>A),
5'UTR
CDS
3'UTR
INTRON
10025133(c.921-70G>A),
10025209(c.921-146T>A),
10025331(c.921-268A>G),
10025409(c.921-346A>T),
10025418(c.921-355T>C),
10025491(c.921-428C>G),
10025495(c.921-432C>A),
10025519(c.921-456A>G),
10025717(c.921-654A>C),
10025776(c.921-713C>T),
10026103(c.920+1000C>A),
10026124(c.920+979T>C),
10026473(c.920+630C>T),
10026516(c.920+587T>A),
10026567(c.920+536A>G),
10026570(c.920+533A>G),
10026628(c.920+475T>C),
10026634(c.920+469A>G),
10026737(c.920+366C>A),
10026763(c.920+340G>T),
10026847(c.920+256A>G),
10027411(c.772-160A>G),
10027427(c.772-176T>G),
10027428(c.772-177G>A),
10027497(c.772-246G>A),
10027504(c.772-253G>A),
10027525(c.772-274G>A),
10027772(c.772-521T>A),
10027796(c.772-545C>T),
10027837(c.772-586A>G),
10027838(c.772-587C>G),
10027853(c.772-602T>G),
10027861(c.772-610A>G),
10027963(c.772-712C>T),
10027986(c.772-735A>G),
10028116(c.772-865T>G),
10028135(c.772-884A>G),
10028180(c.772-929C>T),
10028290(c.772-1039A>G),
10028410(c.772-1159A>T),
10028495(c.772-1244C>T),
10028636(c.772-1385A>G),
10028959(c.771+1640T>A),
10028993(c.771+1606G>A),
10029062(c.771+1537C>T),
10029078(c.771+1521G>T),
10029091(c.771+1508C>T),
10029095(c.771+1504G>A),
10029501(c.771+1098A>G),
10029562(c.771+1037T>G),
10029600(c.771+999C>T),
10029681(c.771+918A>C),
10030085(c.771+514C>A),
10030249(c.771+350A>G),
10030251(c.771+348A>G),
10031039(c.660-329C>T),
10031040(c.660-330A>G),
10031204(c.660-494A>C),
10031207(c.660-497T>C),
10031260(c.660-550C>A),
10031565(c.659+774T>C),
10031649(c.659+690A>G),
10031881(c.659+458C>T),
10031889(c.659+450C>T),
10031912(c.659+427T>C),
10032026(c.659+313G>T),
10032059(c.659+280G>A),
10032573(c.574-149A>T),
10032806(c.574-382G>A),
10033035(c.573+223G>A),
10033340(c.508-17T>C),
10033421(c.508-98T>C),
10033430(c.508-107C>G),
10033444(c.508-121T>G),
10033622(c.508-299G>A),
10033687(c.507+321T>C),
10033762(c.507+246T>C),
10034157(c.379-21G>A),
10034241(c.379-105G>T),
10034337(c.379-201G>A),
10034668(c.378+261G>T),
10034822(c.378+107T>A),
10034878(c.378+51C>T),
10034906(c.378+23C>T),
10035240(c.144-77C>T),
10035413(c.144-250C>T),
10035424(c.144-261C>G),
10035466(c.144-303A>G),
10035595(c.144-432T>C),
10035684(c.144-521T>A),
10035731(c.144-568G>A),
10035733(c.144-570G>A),
10035840(c.144-677G>A),
10036015(c.144-852G>T),
10036040(c.144-877G>A),
10036053(c.144-890G>A),
10036157(c.144-994A>G),
10036294(c.144-1131A>G),
10036328(c.144-1165G>A),
10036374(c.144-1211A>G),
10036420(c.143+1250A>G),
10036430(c.143+1240C>G),
10036446(c.143+1224C>T),
10036621(c.143+1049G>A),
10036688(c.143+982G>A),
10036808(c.143+862G>A),
10036900(c.143+770T>C),
10036985(c.143+685G>A),
10037121(c.143+549A>T),
10037160(c.143+510A>G),
10037194(c.143+476G>C),
10037213(c.143+457C>G),
10037246(c.143+424T>C),
10037289(c.143+381A>G),
10037305(c.143+365T>G),
10037307(c.143+363T>C),
10037582(c.143+88T>A),
-1kb
10019867(c.*5112A>G),
10020068(c.*4911A>G),
10020386(c.*4593G>A),
10020904(c.*4075A>G),
10021340(c.*3639A>G),
10021423(c.*3556A>G),
10021427(c.*3552A>C),
10021447(c.*3532G>C),
10021449(c.*3530C>T),
10021565(c.*3414A>G),
10021594(c.*3385C>A),
10021602(c.*3377G>A),
10021612(c.*3367A>C),
10021658(c.*3321G>A),
10021723(c.*3256C>T),
10021866(c.*3113C>T),
10021925(c.*3054A>G),
10022056(c.*2923C>A),
10022067(c.*2912G>T),
10022114(c.*2865G>A),
10022181(c.*2798G>T),
10022186(c.*2793G>A),
10022207(c.*2772C>G),
10022241(c.*2738T>A),
10022265(c.*2714C>T),
10022282(c.*2697C>T),
10022392(c.*2587G>A),
10022397(c.*2582C>T),
10022424(c.*2555T>C),
10022460(c.*2519G>A),
10022461(c.*2518A>C),
10022562(c.*2417G>A),
10022585(c.*2394C>G),
10022586(c.*2393A>T),
10022753(c.*2226G>A),
10022783(c.*2196G>C),
10022962(c.*2017G>T),
10023015(c.*1964C>T),
10023055(c.*1924G>A),
10023060(c.*1919T>A),
10023197(c.*1782G>A),
10023409(c.*1570T>G),
10023522(c.*1457C>T),
10023552(c.*1427C>T),
10023652(c.*1327C>T),
10023660(c.*1319T>C),
10023685(c.*1294G>C),
10023726(c.*1253A>G),
10023815(c.*1164C>T),
10023835(c.*1144T>G),
10023875(c.*1104G>A),
10023919(c.*1060A>G),
10024011(c.*968C>T),
10024080(c.*899G>A),
10024118(c.*861A>G),
10024131(c.*848G>T),
10024138(c.*841T>A),
10024162(c.*817C>G),
10024239(c.*740T>G),
10024241(c.*738T>C),
10024259(c.*720A>G),
10024275(c.*704A>G),
10024295(c.*684A>C),
10024317(c.*662G>A),
10024402(c.*577C>T),
10024452(c.*527G>A),
10024490(c.*489G>A),
10024491(c.*488T>C),
10024510(c.*469A>G),
10024535(c.*444C>T),
10024551(c.*428C>G),
|
| Insertions |
+1kb
5'UTR
CDS
3'UTR
INTRON
-1kb
|
| Deletions |
+1kb
5'UTR
CDS
3'UTR
INTRON
10025556 (c.921-495_921-494delGT),
10026700 (c.920+401_920+402delCT),
10026789 (c.920+312_920+313delGA),
10026794 (c.920+308delG),
10027465 (c.772-222_772-215delGTGTGTGT),
10031747 (c.659+587_659+591delTGTTT),
10032473 (c.574-50delA),
10033810 (c.507+192_507+197delAAAAAA),
10034579 (c.378+347_378+349delCAA),
10034711 (c.378+216_378+217delAA),
10035785 (c.144-626_144-623delCTCT),
10035910 (c.144-749_144-748delTT),
10036577 (c.143+1091_143+1092delTT),
10037233 (c.143+433_143+436delTTGG),
10037334 (c.143+335delT),
10037354 (c.143+312_143+315delAGTT),
-1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 1 |
| non-synonymous num | 0 |
| synonymous substitutions |
10024988 (p.Asn332Asn),
|
| non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000027050)
|
MAASGSGMAQKTWELANNMQEAQSIDEIYKYDKKQQQEILAAKPWTKDHHYFKYCKISAL
ALLKMVMHARSGGNLEVMGLMLGKVDGETMIIMDSFALPVEGTETRVNAQAAAYEYMAAY
IENAKQVGRLENAIGWYHSHPGYGCWLSGIDVSTQMLNQQFQEPFVAVVIDPTRTISAGK
VNLGAFRTYPKGYKPPDEGPSEYQTIPLNKIEDFGVHCKQYYALEVSYFKSSLDRKLLEL
LWNKYWVNTLSSSSLLTNADYTTGQVFDLSEKLEQSEAQLGRGSFMLGLETHDRKSEDKL
AKATRDSCKTTIEAIHGLMSQVIKDKLFNQINVA*
|
|
MSMv4 transcript
|
MAASGSGMAQKTWELANNMQEAQSIDEIYKYDKKQQQEILAAKPWTKDHHYFKYCKISAL
ALLKMVMHARSGGNLEVMGLMLGKVDGETMIIMDSFALPVEGTETRVNAQAAAYEYMAAY
IENAKQVGRLENAIGWYHSHPGYGCWLSGIDVSTQMLNQQFQEPFVAVVIDPTRTISAGK
VNLGAFRTYPKGYKPPDEGPSEYQTIPLNKIEDFGVHCKQYYALEVSYFKSSLDRKLLEL
LWNKYWVNTLSSSSLLTNADYTTGQVFDLSEKLEQSEAQLGRGSFMLGLETHDRKSEDKL
AKATRDSCKTTIEAIHGLMSQVIKDKLFNQINVA*
|
| homology | 100.00 (335 / 335) |
|