| Reports |
|---|
| substitution |
|---|
| cSNPs | 4 |
|---|
| Insertion | 37 |
|---|
| Deletion | 38 |
|---|
| SNPs |
+1kb
10003598(c.-235T>C),
10003643(c.-280T>C),
10003790(c.-427C>T),
10003915(c.-552C>T),
10003997(c.-634G>A),
10004101(c.-738T>A),
10004168(c.-805G>A),
10004273(c.-910G>A),
10004345(c.-982C>T),
10004350(c.-987G>A),
10004372(c.-1009G>A),
10004435(c.-1072C>T),
10004465(c.-1102G>A),
10004564(c.-1201G>A),
10004765(c.-1402T>C),
10004774(c.-1411C>T),
10004807(c.-1444C>T),
10004840(c.-1477C>T),
10004873(c.-1510C>T),
10004927(c.-1564T>C),
10004936(c.-1573T>C),
10004956(c.-1593T>C),
10004967(c.-1604A>C),
10005170(c.-1807C>T),
10005186(c.-1823T>C),
10005411(c.-2048A>G),
10005602(c.-2239T>C),
10005810(c.-2447G>A),
10005845(c.-2482A>G),
10007292(c.-3929C>T),
10007698(c.-4335A>G),
10007831(c.-4468G>A),
10007840(c.-4477C>T),
10008058(c.-4695G>A),
10008088(c.-4725A>C),
10008123(c.-4760A>G),
10008126(c.-4763G>A),
10008146(c.-4783C>A),
10008226(c.-4863T>A),
10008306(c.-4943G>A),
10008310(c.-4947C>A),
10008411(c.-5048C>A),
- 5'UTR
- CDS
- 3'UTR
- INTRON
9969065(c.*106-134C>A),
9969184(c.*106-253C>T),
9969551(c.*106-620T>C),
9969584(c.*106-653T>A),
9969620(c.*106-689T>C),
9969851(c.*106-920T>G),
9970328(c.*106-1397C>T),
9970377(c.*106-1446T>C),
9970568(c.*106-1637A>G),
9971087(c.*106-2156C>A),
9971135(c.*106-2204C>T),
9971222(c.*106-2291A>C),
9971379(c.*106-2448C>T),
9971476(c.*106-2545A>G),
9971478(c.*106-2547G>A),
9971869(c.*106-2938T>A),
9971877(c.*106-2946C>T),
9971919(c.*106-2988T>C),
9971996(c.*106-3065A>G),
9972031(c.*106-3100T>C),
9972039(c.*106-3108G>A),
9972231(c.*106-3300C>T),
9972244(c.*106-3313T>C),
9972262(c.*106-3331T>G),
9972349(c.*106-3418C>A),
9972578(c.*106-3647T>G),
9972634(c.*106-3703G>A),
9972964(c.*105+3623G>A),
9973195(c.*105+3392C>T),
9973383(c.*105+3204T>C),
9973384(c.*105+3203C>T),
9973387(c.*105+3200G>A),
9973648(c.*105+2939G>A),
9973649(c.*105+2938G>A),
9973652(c.*105+2935A>G),
9973880(c.*105+2707G>A),
9973908(c.*105+2679C>T),
9974086(c.*105+2501A>C),
9974171(c.*105+2416T>G),
9974205(c.*105+2382A>G),
9974550(c.*105+2037G>A),
9974815(c.*105+1772G>T),
9974919(c.*105+1668G>T),
9975247(c.*105+1340T>C),
9975379(c.*105+1208A>G),
9975390(c.*105+1197A>T),
9975504(c.*105+1083T>A),
9975556(c.*105+1031A>T),
9975599(c.*105+988C>T),
9975652(c.*105+935A>G),
9975655(c.*105+932G>A),
9975729(c.*105+858A>C),
9975794(c.*105+793G>A),
9975843(c.*105+744T>C),
9975848(c.*105+739T>A),
9976021(c.*105+566A>G),
9976070(c.*105+517C>T),
9976145(c.*105+442A>T),
9976212(c.*105+375A>T),
9976227(c.*105+360G>A),
9976481(c.*105+106G>C),
9976483(c.*105+104C>T),
9976914(c.803-215C>T),
9977183(c.803-484G>A),
9977200(c.803-501A>G),
9977218(c.803-519G>T),
9977369(c.803-670A>T),
9977618(c.803-919T>C),
9977632(c.803-933G>T),
9977740(c.803-1041G>T),
9977924(c.802+892A>G),
9978206(c.802+610C>T),
9978244(c.802+572G>A),
9978272(c.802+544G>A),
9978276(c.802+540T>C),
9978282(c.802+534C>T),
9978283(c.802+533C>A),
9978398(c.802+418T>A),
9978567(c.802+249G>A),
9978574(c.802+242C>A),
9978637(c.802+179A>G),
9978653(c.802+163A>G),
9978707(c.802+109C>A),
9978761(c.802+55C>T),
9978762(c.802+54G>A),
9978776(c.802+40C>T),
9978777(c.802+39A>G),
9979113(c.671-166A>G),
9979157(c.671-210T>C),
9979237(c.671-290G>T),
9979284(c.671-337C>T),
9979300(c.671-353A>G),
9979371(c.671-424G>A),
9979586(c.671-639C>T),
9979796(c.671-849T>G),
9979833(c.671-886T>A),
9979907(c.671-960C>T),
9980105(c.671-1158G>C),
9980115(c.671-1168G>A),
9980733(c.671-1786A>G),
9980949(c.671-2002A>G),
9980951(c.671-2004A>C),
9980954(c.671-2007T>A),
9980965(c.671-2018T>A),
9981028(c.671-2081G>A),
9981083(c.671-2136A>G),
9981517(c.671-2570C>T),
9981526(c.671-2579A>G),
9981531(c.671-2584A>G),
9981571(c.671-2624G>T),
9981782(c.671-2835A>T),
9981792(c.671-2845T>C),
9981823(c.671-2876C>T),
9981829(c.671-2882C>T),
9981864(c.671-2917A>G),
9981993(c.671-3046C>G),
9982017(c.671-3070G>A),
9982300(c.670+3292A>G),
9982444(c.670+3148C>T),
9982930(c.670+2662G>T),
9982955(c.670+2637C>T),
9982959(c.670+2633A>T),
9983055(c.670+2537G>T),
9983060(c.670+2532T>G),
9983110(c.670+2482A>G),
9983199(c.670+2393A>G),
9983206(c.670+2386G>A),
9983315(c.670+2277T>A),
9983323(c.670+2269T>G),
9985315(c.670+277T>C),
9985383(c.670+209T>C),
9985772(c.553-63G>C),
9985838(c.553-129G>C),
9985882(c.553-173T>C),
9986024(c.553-315A>C),
9986027(c.553-318T>G),
9986047(c.553-338A>G),
9986053(c.553-344A>G),
9986184(c.553-475A>G),
9986211(c.553-502T>C),
9986230(c.553-521A>G),
9986288(c.553-579A>G),
9986308(c.553-599G>T),
9986672(c.553-963T>C),
9986719(c.553-1010C>T),
9986732(c.553-1023A>C),
9986931(c.553-1222A>G),
9986954(c.553-1245G>A),
9987021(c.553-1312T>C),
9987023(c.553-1314G>A),
9987041(c.553-1332T>C),
9987278(c.553-1569G>A),
9987351(c.553-1642T>C),
9987375(c.553-1666G>C),
9987429(c.553-1720A>G),
9987463(c.553-1754G>A),
9987861(c.553-2152T>C),
9988066(c.553-2357C>T),
9988109(c.553-2400C>T),
9988113(c.553-2404A>G),
9988123(c.553-2414A>C),
9988259(c.553-2550C>T),
9988285(c.553-2576T>G),
9988319(c.553-2610C>T),
9988323(c.553-2614G>A),
9988355(c.553-2646A>G),
9988372(c.553-2663A>G),
9988442(c.553-2733A>G),
9988461(c.553-2752A>G),
9990057(c.553-4348C>T),
9990590(c.552+4556A>G),
9990841(c.552+4305T>C),
9990886(c.552+4260T>G),
9990932(c.552+4214G>A),
9990938(c.552+4208A>G),
9990993(c.552+4153T>G),
9990999(c.552+4147G>A),
9991022(c.552+4124G>A),
9991033(c.552+4113G>A),
9991072(c.552+4074G>T),
9991130(c.552+4016A>G),
9991131(c.552+4015C>T),
9991147(c.552+3999A>G),
9991369(c.552+3777A>G),
9991512(c.552+3634A>G),
9991553(c.552+3593T>A),
9991695(c.552+3451A>G),
9992013(c.552+3133T>C),
9992036(c.552+3110T>G),
9992080(c.552+3066A>T),
9992085(c.552+3061G>A),
9992196(c.552+2950T>C),
9992249(c.552+2897T>C),
9992271(c.552+2875T>C),
9992634(c.552+2512A>G),
9992635(c.552+2511A>T),
9992675(c.552+2471T>G),
9992677(c.552+2469G>A),
9992679(c.552+2467A>T),
9992680(c.552+2466G>T),
9993060(c.552+2086G>A),
9993094(c.552+2052C>A),
9993107(c.552+2039C>T),
9993315(c.552+1831A>G),
9993433(c.552+1713A>T),
9993562(c.552+1584C>A),
9993646(c.552+1500C>T),
9993734(c.552+1412A>G),
9993766(c.552+1380A>G),
9993927(c.552+1219G>A),
9994479(c.552+667C>G),
9994481(c.552+665G>C),
9994933(c.552+213G>A),
9994939(c.552+207A>G),
9994950(c.552+196C>T),
9994994(c.552+152G>T),
9995038(c.552+108T>A),
9995128(c.552+18T>C),
9996582(c.436-1320A>G),
9996865(c.436-1603C>T),
9996872(c.436-1610C>T),
9996883(c.436-1621A>G),
9996884(c.436-1622C>T),
9996887(c.436-1625A>G),
9997181(c.436-1919T>C),
9997198(c.436-1936A>C),
9997296(c.436-2034G>T),
9997314(c.436-2052A>G),
9997355(c.435+2046A>C),
9997358(c.435+2043G>C),
9997366(c.435+2035C>T),
9997375(c.435+2026G>T),
9997397(c.435+2004T>C),
9997499(c.435+1902C>T),
9997519(c.435+1882T>C),
9997645(c.435+1756C>T),
9997647(c.435+1754G>A),
9997661(c.435+1740G>A),
9997679(c.435+1722C>A),
9997681(c.435+1720T>A),
9997691(c.435+1710C>G),
9997693(c.435+1708T>C),
9997842(c.435+1559G>A),
9997853(c.435+1548C>T),
9997952(c.435+1449G>T),
9997997(c.435+1404A>C),
9998050(c.435+1351T>G),
9998099(c.435+1302C>A),
9998149(c.435+1252G>T),
9998252(c.435+1149T>A),
9998253(c.435+1148C>G),
9998352(c.435+1049C>T),
9998407(c.435+994C>A),
9998445(c.435+956C>T),
9998449(c.435+952T>G),
9998484(c.435+917C>T),
9998589(c.435+812A>G),
9998749(c.435+652C>T),
9998916(c.435+485C>T),
9999101(c.435+300C>T),
9999268(c.435+133G>A),
9999281(c.435+120C>T),
9999326(c.435+75G>A),
9999328(c.435+73A>G),
9999369(c.435+32C>T),
9999937(c.296+34G>A),
10000287(c.130-150A>G),
10000432(c.130-295G>A),
10000459(c.130-322C>T),
10000591(c.130-454T>C),
10000686(c.130-549A>C),
10000829(c.130-692T>C),
10000832(c.130-695C>T),
10000883(c.130-746C>T),
10000964(c.130-827G>T),
10001107(c.130-970A>C),
10001115(c.130-978T>C),
10001120(c.130-983T>C),
10001867(c.129+1368G>C),
10001900(c.129+1335A>G),
10002060(c.129+1175G>A),
10002320(c.129+915C>T),
10002321(c.129+914C>T),
10002332(c.129+903A>G),
10002373(c.129+862C>T),
10002376(c.129+859T>C),
10002410(c.129+825C>T),
10002412(c.129+823T>C),
10002603(c.129+632C>T),
10002803(c.129+432T>C),
10002947(c.129+288G>A),
10003137(c.129+98A>G),
-
-1kb
9963636(c.*13056C>G),
9963773(c.*12919G>T),
9963830(c.*12862A>G),
9963847(c.*12845A>G),
9963893(c.*12799T>C),
9963924(c.*12768C>T),
9963951(c.*12741A>G),
9963983(c.*12709A>G),
9963992(c.*12700T>C),
9964004(c.*12688G>A),
9964082(c.*12610C>G),
9964150(c.*12542T>A),
9964208(c.*12484T>A),
9964233(c.*12459C>T),
9964237(c.*12455G>A),
9964252(c.*12440C>T),
9964327(c.*12365G>A),
9964371(c.*12321T>C),
9964703(c.*11989G>A),
9964817(c.*11875G>C),
9964873(c.*11819T>C),
9965012(c.*11680T>C),
9965108(c.*11584T>G),
9965162(c.*11530C>G),
9965295(c.*11397T>C),
9965300(c.*11392A>G),
9965362(c.*11330A>G),
9965413(c.*11279A>G),
9965451(c.*11241C>A),
9965840(c.*10852T>C),
9965885(c.*10807C>T),
9965988(c.*10704T>C),
9966198(c.*10494C>T),
9966202(c.*10490G>A),
9966343(c.*10349G>A),
9966434(c.*10258G>A),
9966527(c.*10165C>A),
9966549(c.*10143A>T),
9966597(c.*10095A>T),
9966700(c.*9992C>T),
9967032(c.*9660T>G),
9967085(c.*9607C>T),
9967189(c.*9503C>T),
9967654(c.*9038G>C),
9967772(c.*8920G>T),
9967942(c.*8750A>G),
9968082(c.*8610G>A),
9968198(c.*8494C>G),
9968233(c.*8459T>C),
9968267(c.*8425C>T),
9968295(c.*8397T>C),
9968343(c.*8349G>T),
9968375(c.*8317C>T),
|
|---|
| Insertions |
-
+1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
9970397 (c.*106-1467dupT),
9973649 (c.*105+2937_*105+2938insAA),
9974821 (c.*105+1763_*105+1765dupTTG),
9975361 (c.*105+1224_*105+1225dupTG),
9975630 (c.*105+954_*105+956dupAAA),
9978020 (c.802+795_802+796insAG),
9978125 (c.802+689_802+690dupTT),
9978452 (c.802+363_802+364insCAGTCTC),
9978976 (c.671-31_671-30dupAC),
9979911 (c.671-968_671-965dupAGAA),
9981398 (c.671-2452dupT),
9982024 (c.671-3078_671-3077insA),
9982100 (c.671-3154dupA),
9982107 (c.671-3161_671-3160insA),
9982259 (c.671-3313_671-3312insTATGTGT),
9982520 (c.670+3071_670+3072insACTACATCAA),
9985556 (c.670+35_670+36insG),
9986093 (c.553-386_553-385dupCT),
9986416 (c.553-708_553-707insATT),
9987972 (c.553-2264_553-2263insAATAGC),
9987987 (c.553-2279_553-2278insAAT),
9990542 (c.552+4603_552+4604insTC),
9993671 (c.552+1474_552+1475insA),
9994520 (c.552+625_552+626insAG),
9994869 (c.552+276_552+277insC),
9998176 (c.435+1224_435+1225insG),
9998253 (c.435+1147_435+1148insTTAT),
9998312 (c.435+1088_435+1089insG),
9998315 (c.435+1085dupG),
9998954 (c.435+446dupC),
10001272 (c.130-1138_130-1136dupTGT),
-
-1kb
|
|---|
| Deletions |
-
+1kb
- 5'UTR
- CDS
- 3'UTR
- INTRON
9968975 (c.*106-45delC),
9969529 (c.*106-599delG),
9970270 (c.*106-1343_*106-1340delTGTC),
9974355 (c.*105+2230_*105+2231delAT),
9974804 (c.*105+1778_*105+1782delGTTGT),
9976446 (c.*105+139_*105+140delAG),
9977468 (c.803-773_803-770delACCC),
9980460 (c.671-1515_671-1514delTG),
9985046 (c.670+544_670+545delTT),
9985114 (c.670+477delA),
9985167 (c.670+420_670+424delAAGGC),
9985173 (c.670+415_670+418delGAAG),
9987185 (c.553-1480_553-1477delCTGT),
9987208 (c.553-1503_553-1500delTATT),
9987231 (c.553-1526_553-1523delATTT),
9988406 (c.553-2698delA),
9989998 (c.553-4290delG),
9990226 (c.553-4521_553-4518delGACT),
9991013 (c.552+4127_552+4132delAACGGT),
9992680 (c.552+2465delA),
9993693 (c.552+1452delA),
9993855 (c.552+1288_552+1290delTAT),
9994527 (c.552+618delA),
9994536 (c.552+609delA),
9995053 (c.552+92delA),
10001263 (c.130-1127delG),
10001435 (c.130-1300_130-1299delTA),
10001456 (c.130-1320delT),
10001462 (c.130-1326delT),
10002789 (c.129+445delA),
10003062 (c.129+171_129+172delAA),
-
-1kb
|
|---|
| coding sequence substitutions |
|---|
| premature termination by the nucleotide substitution | 0 |
|---|
| synonymous num | 4 |
|---|
| non-synonymous num | 0 |
|---|
| synonymous substitutions |
9978820 (p.Tyr266Tyr),
9999461 (p.Ser125Ser),
10000042 (p.Thr75Thr),
10000129 (p.Leu46Leu),
|
|---|
| non-synonymous substitutions |
|
|---|
B6 transcript
(ENSMUST00000124874)
|
MVRLTVDLIAKNSNLKPRKEETLAQCLKKITHINFSDRNIDSIDDLSLCRNLSVLYLYDN
RISQVTNLNYTTNLTHLYLQNNCISCIENLSSLKKLEKLYLGGNYIAVIEGLEGLEELRE
LHVESQRLPLGEKLLFDPRTLRSLAKSLSTLNISNNNIDDIKDLEILENLNHLIAVDNQL
MHVKDLELLLKKLMKLWKMDLNGNPVCLKPKYRDKLILTSKSLEFLDGKEIKDMERQFLM
NWKASKDAKKISKKRRSRSEDASNSYISG*
|
|
MSMv4 transcript
|
MVRLTVDLIAKNSNLKPRKEETLAQCLKKITHINFSDRNIDSIDDLSLCRNLSVLYLYDN
RISQVTNLNYTTNLTHLYLQNNCISCIENLSSLKKLEKLYLGGNYIAVIEGLEGLEELRE
LHVESQRLPLGEKLLFDPRTLRSLAKSLSTLNISNNNIDDIKDLEILENLNHLIAVDNQL
MHVKDLELLLKKLMKLWKMDLNGNPVCLKPKYRDKLILTSKSLEFLDGKEIKDMERQFLM
NWKASKDAKKISKKRRSRSEDASNSYISG*
|
| homology | 100.00 (270 / 270) |
|---|
|
