| Reports |
| substitution |
| cSNPs | 9 |
| Insertion | 40 |
| Deletion | 48 |
| SNPs |
+1kb
33814655(c.-297G>A),
33815024(c.-666A>T),
33815048(c.-690A>C),
33815293(c.-935T>C),
33815338(c.-980T>C),
33815419(c.-1061A>G),
33816558(c.-2200G>T),
33816605(c.-2247C>T),
33816654(c.-2296A>G),
33816677(c.-2319A>T),
33816712(c.-2354C>T),
33816718(c.-2360C>T),
33816795(c.-2437T>C),
33816808(c.-2450A>G),
33816814(c.-2456G>A),
33816835(c.-2477C>T),
33816836(c.-2478C>T),
33816866(c.-2508G>A),
33816923(c.-2565T>C),
33816925(c.-2567A>T),
33816977(c.-2619G>A),
33817310(c.-2952A>G),
33817747(c.-3389G>A),
5'UTR
CDS
3'UTR
INTRON
33762360(c.3125-151C>T),
33762535(c.3125-326A>G),
33762616(c.3125-407C>T),
33762825(c.3125-616T>A),
33762842(c.3125-633C>T),
33762848(c.3125-639T>C),
33762913(c.3125-704T>C),
33763369(c.3125-1160C>T),
33764018(c.3125-1809T>A),
33764308(c.3124+1536C>T),
33764409(c.3124+1435A>G),
33764413(c.3124+1431T>C),
33764696(c.3124+1148C>G),
33765056(c.3124+788C>T),
33765069(c.3124+775G>T),
33765106(c.3124+738G>C),
33765129(c.3124+715C>T),
33765189(c.3124+655T>C),
33765536(c.3124+308C>T),
33766145(c.3059-236A>G),
33766908(c.3059-999A>G),
33767754(c.3059-1845G>C),
33768019(c.3058+1702G>A),
33768087(c.3058+1634A>C),
33768604(c.3058+1117C>A),
33768893(c.3058+828A>C),
33769053(c.3058+668G>C),
33769681(c.3058+40A>G),
33770035(c.2872-128G>A),
33770629(c.2871+140A>G),
33771143(c.2741-244T>C),
33771481(c.2741-582C>G),
33771756(c.2741-857A>C),
33771852(c.2741-953T>C),
33772266(c.2740+627C>T),
33772379(c.2740+514A>G),
33772453(c.2740+440C>A),
33772666(c.2740+227G>A),
33772706(c.2740+187A>G),
33773247(c.2600-214T>C),
33773262(c.2600-229G>A),
33773540(c.2600-507G>A),
33774402(c.2600-1369C>G),
33774498(c.2600-1465G>T),
33775028(c.2599+1241A>G),
33775249(c.2599+1020G>C),
33775310(c.2599+959G>C),
33775911(c.2599+358G>T),
33775953(c.2599+316G>C),
33776135(c.2599+134T>C),
33776210(c.2599+59T>C),
33776225(c.2599+44A>G),
33776249(c.2599+20G>A),
33776250(c.2599+19G>A),
33777916(c.1005-53C>T),
33778587(c.1004+457A>G),
33778880(c.1004+164A>G),
33779003(c.1004+41A>G),
33779029(c.1004+15A>G),
33779033(c.1004+11T>C),
33779200(c.857-9A>C),
33779236(c.857-45T>G),
33779386(c.857-195G>A),
33779577(c.856+319T>A),
33779738(c.856+158A>G),
33780253(c.703-204A>G),
33780562(c.703-513C>A),
33780641(c.703-592A>G),
33780742(c.703-693A>G),
33780770(c.703-721A>G),
33780820(c.703-771G>A),
33781051(c.703-1002T>G),
33781213(c.702+855T>A),
33781320(c.702+748G>A),
33781361(c.702+707G>A),
33781404(c.702+664T>C),
33781821(c.702+247A>C),
33782281(c.576-87T>A),
33782584(c.576-390C>A),
33782653(c.575+388G>A),
33782992(c.575+49A>G),
33783464(c.425-273T>C),
33783627(c.424+226T>C),
33783786(c.424+67A>G),
33784256(c.313-292T>C),
33784788(c.313-824T>C),
33785029(c.313-1065C>A),
33785083(c.313-1119T>C),
33785592(c.312+815C>T),
33785964(c.312+443C>T),
33786038(c.312+369T>C),
33786836(c.187-304T>A),
33787518(c.187-986A>T),
33787540(c.187-1008T>C),
33787843(c.187-1311T>C),
33787847(c.187-1315G>A),
33787866(c.187-1334A>G),
33787889(c.187-1357A>G),
33788059(c.187-1527A>G),
33788074(c.187-1542G>C),
33788108(c.187-1576A>C),
33788176(c.187-1644C>A),
33788278(c.187-1746G>C),
33788282(c.187-1750C>T),
33788295(c.187-1763G>T),
33788306(c.187-1774C>T),
33788308(c.187-1776T>C),
33788388(c.187-1856G>T),
33788397(c.187-1865A>G),
33788430(c.187-1898C>T),
33788467(c.187-1935C>A),
33788487(c.187-1955T>C),
33788664(c.187-2132G>A),
33788730(c.187-2198C>T),
33788867(c.187-2335A>G),
33789100(c.187-2568G>C),
33789174(c.187-2642C>T),
33789201(c.187-2669C>G),
33789205(c.187-2673C>T),
33790254(c.187-3722C>T),
33790533(c.187-4001C>T),
33791023(c.187-4491C>G),
33791339(c.187-4807C>A),
33791586(c.187-5054T>C),
33791891(c.187-5359A>C),
33792379(c.187-5847G>A),
33792489(c.187-5957T>C),
33792551(c.187-6019C>T),
33792602(c.187-6070T>G),
33792710(c.187-6178A>G),
33792781(c.187-6249C>T),
33792992(c.187-6460T>C),
33793163(c.187-6631A>G),
33793226(c.187-6694A>G),
33793345(c.187-6813A>T),
33793347(c.187-6815A>G),
33793417(c.187-6885T>C),
33793503(c.187-6971G>A),
33793607(c.187-7075G>A),
33794087(c.187-7555A>G),
33794176(c.187-7644C>G),
33794300(c.187-7768C>G),
33794448(c.187-7916C>T),
33794570(c.187-8038G>T),
33794576(c.187-8044G>A),
33794609(c.187-8077A>G),
33794732(c.187-8200A>G),
33794892(c.187-8360A>G),
33794923(c.187-8391T>A),
33795048(c.187-8516C>T),
33795220(c.187-8688C>T),
33795420(c.187-8888A>C),
33795556(c.187-9024A>G),
33795639(c.187-9107T>C),
33795652(c.187-9120T>C),
33795686(c.187-9154T>C),
33795841(c.187-9309C>G),
33796184(c.186+9155C>T),
33796334(c.186+9005T>C),
33796340(c.186+8999C>T),
33796343(c.186+8996G>A),
33796352(c.186+8987G>A),
33796379(c.186+8960G>A),
33796380(c.186+8959T>C),
33797255(c.186+8084T>C),
33797284(c.186+8055G>A),
33797334(c.186+8005C>G),
33797496(c.186+7843A>G),
33797541(c.186+7798A>G),
33797796(c.186+7543C>T),
33798515(c.186+6824G>A),
33798702(c.186+6637T>A),
33799179(c.186+6160G>A),
33799331(c.186+6008C>A),
33799607(c.186+5732T>G),
33799662(c.186+5677T>C),
33800191(c.186+5148T>C),
33800711(c.186+4628G>A),
33801496(c.186+3843T>C),
33801519(c.186+3820C>T),
33801709(c.186+3630G>T),
33802046(c.186+3293G>T),
33803254(c.186+2085A>G),
33803367(c.186+1972C>T),
33803864(c.186+1475C>G),
33803998(c.186+1341C>A),
33804266(c.186+1073T>G),
33804267(c.186+1072C>T),
33804337(c.186+1002C>T),
33804501(c.186+838G>A),
33804535(c.186+804A>G),
33804537(c.186+802G>A),
33804538(c.186+801T>C),
33804621(c.186+718T>C),
33804872(c.186+467G>A),
33804906(c.186+433T>C),
33805001(c.186+338G>T),
33805080(c.186+259C>T),
33805081(c.186+258C>T),
33805115(c.186+224C>T),
33805305(c.186+34T>G),
33805311(c.186+28T>C),
33805318(c.186+21T>C),
33805507(c.106-88C>G),
33805735(c.106-316G>A),
33806208(c.106-789G>T),
33806242(c.106-823G>A),
33806516(c.106-1097T>G),
33806849(c.106-1430G>A),
33807188(c.106-1769T>A),
33807330(c.106-1911C>T),
33807525(c.106-2106C>T),
33807593(c.106-2174C>T),
33807658(c.106-2239A>G),
33807709(c.106-2290A>G),
33807872(c.106-2453A>G),
33807924(c.106-2505C>T),
33807929(c.106-2510C>T),
33808176(c.106-2757A>G),
33808277(c.106-2858C>T),
33808394(c.106-2975G>A),
33808451(c.106-3032T>C),
33808599(c.106-3180C>T),
33808787(c.106-3368C>T),
33808816(c.106-3397A>T),
33808948(c.106-3529A>G),
33808985(c.106-3566C>T),
33809037(c.106-3618C>T),
33809076(c.106-3657G>A),
33809104(c.106-3685A>G),
33809109(c.106-3690G>A),
33809143(c.106-3724T>G),
33809200(c.106-3781G>C),
33809321(c.106-3902A>G),
33809340(c.106-3921C>T),
33809413(c.106-3994G>T),
33809482(c.106-4063A>G),
33809545(c.106-4126T>C),
33809568(c.106-4149G>A),
33809887(c.105+3840G>A),
33809972(c.105+3755A>T),
33810039(c.105+3688C>T),
33810299(c.105+3428T>C),
33810400(c.105+3327G>A),
33810523(c.105+3204T>C),
33810710(c.105+3017T>C),
33810888(c.105+2839A>G),
33810920(c.105+2807C>A),
33811197(c.105+2530T>C),
33811588(c.105+2139T>G),
33811725(c.105+2002G>A),
33811895(c.105+1832A>G),
33812011(c.105+1716T>G),
33812184(c.105+1543C>T),
33812205(c.105+1522G>A),
33812356(c.105+1371C>T),
33812710(c.105+1017G>A),
33813127(c.105+600C>A),
33813490(c.105+237C>T),
33813584(c.105+143T>A),
33813915(c.22-105T>A),
33814038(c.22-228A>G),
33814121(c.21+217A>G),
33814140(c.21+198C>T),
-1kb
33756562(c.*5601A>G),
33756578(c.*5585G>T),
33756758(c.*5405G>A),
33756860(c.*5303C>T),
33756898(c.*5265T>G),
33757121(c.*5042C>T),
33757130(c.*5033T>A),
33757156(c.*5007C>T),
33757195(c.*4968C>A),
33757286(c.*4877T>C),
33757291(c.*4872C>A),
33757356(c.*4807G>A),
33757449(c.*4714C>T),
33757554(c.*4609G>C),
33757996(c.*4167A>G),
33758084(c.*4079G>A),
33758090(c.*4073C>G),
33758121(c.*4042T>A),
33758399(c.*3764A>G),
33758630(c.*3533C>T),
33758638(c.*3525C>T),
33758671(c.*3492G>A),
33758672(c.*3491T>C),
33758697(c.*3466G>A),
33758903(c.*3260C>G),
33758905(c.*3258T>A),
33758953(c.*3210A>G),
33758967(c.*3196T>A),
33758989(c.*3174G>A),
33759043(c.*3120T>C),
33759054(c.*3109G>A),
33759108(c.*3055A>C),
33759122(c.*3041A>G),
33759167(c.*2996T>A),
33759170(c.*2993A>G),
33759174(c.*2989G>A),
33759219(c.*2944G>A),
33759439(c.*2724C>T),
33759514(c.*2649C>T),
33759651(c.*2512C>T),
33759734(c.*2429C>T),
33759969(c.*2194C>T),
33760288(c.*1875C>T),
33760328(c.*1835C>T),
33760370(c.*1793C>T),
33760448(c.*1715G>T),
33760450(c.*1713G>C),
33760490(c.*1673T>A),
33760851(c.*1312G>A),
33761184(c.*979G>T),
33761244(c.*919A>T),
33761288(c.*875G>A),
33761411(c.*752C>T),
33761481(c.*682C>T),
|
| Insertions |
+1kb
5'UTR
CDS
3'UTR
INTRON
33762216 (c.3125-8dupT),
33768679 (c.3058+1041dupA),
33772446 (c.2740+446dupA),
33775355 (c.2599+910_2599+913dupTAAG),
33781506 (c.702+561_702+562insCTCAAGCT),
33782484 (c.576-291dupA),
33783760 (c.424+91_424+92dupAG),
33789972 (c.187-3441_187-3440insTG),
33791435 (c.187-4904_187-4903insCAACCATCCAG),
33792923 (c.187-6392dupT),
33795364 (c.187-8833_187-8832insA),
33795995 (c.186+9343dupT),
33797195 (c.186+8143_186+8144insGT),
33801713 (c.186+3625dupA),
33805293 (c.186+45_186+46insAA),
33806171 (c.106-753dupT),
33806362 (c.106-944_106-943insG),
33806498 (c.106-1080dupT),
33806935 (c.106-1517_106-1516insAG),
33806938 (c.106-1520_106-1519insAA),
33807303 (c.106-1885dupG),
33807609 (c.106-2191_106-2190insAT),
33809302 (c.106-3884_106-3883insGT),
33809843 (c.105+3883_105+3884insG),
33810270 (c.105+3456_105+3457insT),
33810798 (c.105+2925_105+2928dupACAA),
33810939 (c.105+2787_105+2788insATAT),
33811375 (c.105+2351_105+2352insA),
33811424 (c.105+2302_105+2303insG),
33811552 (c.105+2174_105+2175insAT),
-1kb
|
| Deletions |
+1kb
5'UTR
CDS
3'UTR
INTRON
33766831 (c.3059-926_3059-923delATAC),
33769039 (c.3058+681delC),
33770912 (c.2741-14delT),
33771976 (c.2740+915_2740+916delTA),
33772423 (c.2740+469delT),
33773131 (c.2600-99delG),
33775554 (c.2599+714delT),
33777875 (c.1005-13delT),
33778369 (c.1005-512_1005-507delAAAAAA),
33781845 (c.702+220_702+222delTTA),
33784489 (c.313-526delT),
33785764 (c.312+642delT),
33787156 (c.187-627_187-625delTTA),
33787225 (c.187-696_187-694delTTA),
33787236 (c.187-706_187-705delTT),
33787881 (c.187-1354_187-1350delGGGAT),
33788173 (c.187-1642delC),
33791612 (c.187-5081delC),
33792217 (c.187-5688_187-5686delATT),
33794324 (c.187-7795_187-7793delTTT),
33795158 (c.187-8627delA),
33796490 (c.186+8846_186+8848delGTT),
33796671 (c.186+8666_186+8667delAT),
33796926 (c.186+8411_186+8412delTC),
33798631 (c.186+6707delT),
33799999 (c.186+5338_186+5339delTT),
33800859 (c.186+4478_186+4479delCT),
33801349 (c.186+3987_186+3989delTGT),
33804267 (c.186+1070_186+1071delAT),
33805014 (c.186+321_186+324delTTTT),
33805745 (c.106-327delT),
33807018 (c.106-1601_106-1600delTT),
33807756 (c.106-2339_106-2338delTT),
33808612 (c.106-3195_106-3194delTG),
33808623 (c.106-3206_106-3205delGG),
33808996 (c.106-3580_106-3578delTGT),
33809398 (c.106-3983_106-3980delTCTT),
33809859 (c.105+3863_105+3867delGTGGT),
33810326 (c.105+3392_105+3400delCAACAAACA),
-1kb
|
| coding sequence substitutions |
| premature termination by the nucleotide substitution | 0 |
| synonymous num | 5 |
| non-synonymous num | 4 |
| synonymous substitutions |
33776408 (p.Pro820Pro),
33776555 (p.Cys771Cys),
33776576 (p.Thr764Thr),
33776606 (p.Ser754Ser),
33779975 (p.Phe259Phe),
|
| non-synonymous substitutions |
33776398 (p.Asn824Asp),
33777444 (p.Gln475Arg),
33777550 (p.Val440Ile),
33786520 (p.Cys67Arg),
|
B6 transcript
(ENSMUST00000019861)
|
MGDPGPEIIESVPPAGPEASESTTDENEDDIQFVSEGPLRPVLEYIDLVSSDDEEPSTSH
SDENFKCKDYIDHQKDKVALTLARLARHVEVEKQQKEEKNRAFREKIDFQHAHGLQELEF
IQGHSETEAARQCVDQWLKMPGLRTNAANSGTKRSFQRGGRMWRSEKPILCPIMHCNKEF
DNGHLLLGHLKRFDHSPCDPTITLHGPLANSFACAVCYEHFVTQQQYKDHLLSRTAAADG
HSNSLLPQIIQCYACPQCFLLFSTKDECLKHMSTKNHFHQSFKLSDNKGTARPISFPSFA
KKRLVSLCKDVPFQVKCVACHQTLRSHMELTAHFRVRCQNAGPVAIAEKSITQVAKEFIV
RGYCSDCNQVFMDVASTQSHKNSGHKITLANSVEESVLLYCHISEGSRPPCDLHLFSQPK
ISSLKRILSVKESSAEDCIVPTKKVNLGVESLGGATRVQRQSPAVTAWFCECRRQFPSEE
AVEKHVFSANTMCYKCVVCGKVCEDSGVMRLHMSRFHGGAHLNNFLFWCRTCKKELVKKD
AIMAHITEFHSGHRYFYEMDEVEEEEEEAMPSSSVESHLNTDKPPSPIAVVDHCPANSPP
RGRWQCRICEDMFESQECVKQHCMSLTSHRFHRYSCAHCRKTFHKVETLYRHCQDEHDSE
IMMKYFCGLCDLIFNKEEEFLSHYKEHHSIDYVFVSEKTKTSIKTEGDFKIVETSSLLSC
GCHESYMCKINRKEDYDRCLPVLLEKGRLWFRCSSCSATAQNVTDINTHVCQVHRKEKSE
EEQQYVIKCGICTKAFQNTESAQQHFHRKHAALQKPTATPGGANRSSTCQLAASASHAEK
NLKQPSSQKHSDVEKGAEHDVRCQNIEEEVELPDVDYLRTMTHIVFVDFDNWSNFFGHLP
GHLNQGTFIWGFQGGNTNWKPPLSCKVYNYLSRIGCFFLHPRCSKRKDAADFAICMHAGR
LDEQLPKQIPFTILSGDQGFLELENQFKKTQRPAHILNPHHLEGDMMCALLNSISDTTKE
CDSDDSSGMKGSPAEELRATEDVELEEAIRRSLEEM*
|
|
MSMv4 transcript
|
MGDPGPEIIESVPPAGPEASESTTDENEDDIQFVSEGPLRPVLEYIDLVSSDDEEPSTSH
SDENFKRKDYIDHQKDKVALTLARLARHVEVEKQQKEEKNRAFREKIDFQHAHGLQELEF
IQGHSETEAARQCVDQWLKMPGLRTNAANSGTKRSFQRGGRMWRSEKPILCPIMHCNKEF
DNGHLLLGHLKRFDHSPCDPTITLHGPLANSFACAVCYEHFVTQQQYKDHLLSRTAAADG
HSNSLLPQIIQCYACPQCFLLFSTKDECLKHMSTKNHFHQSFKLSDNKGTARPISFPSFA
KKRLVSLCKDVPFQVKCVACHQTLRSHMELTAHFRVRCQNAGPVAIAEKSITQVAKEFIV
RGYCSDCNQVFMDVASTQSHKNSGHKITLANSVEESVLLYCHISEGSRPPCDLHLFSQPK
ISSLKRILSVKESSAEDCIIPTKKVNLGVESLGGATRVQRQSPAVTAWFCECRRRFPSEE
AVEKHVFSANTMCYKCVVCGKVCEDSGVMRLHMSRFHGGAHLNNFLFWCRTCKKELVKKD
AIMAHITEFHSGHRYFYEMDEVEEEEEEAMPSSSVESHLNTDKPPSPIAVVDHCPANSPP
RGRWQCRICEDMFESQECVKQHCMSLTSHRFHRYSCAHCRKTFHKVETLYRHCQDEHDSE
IMMKYFCGLCDLIFNKEEEFLSHYKEHHSIDYVFVSEKTKTSIKTEGDFKIVETSSLLSC
GCHESYMCKINRKEDYDRCLPVLLEKGRLWFRCSSCSATAQNVTDINTHVCQVHRKEKSE
EEQQYVIKCGICTKAFQNTESAQQHFHRKHAALQKPTATPGGADRSSTCQLAASASHAEK
NLKQPSSQKHSDVEKGAEHDVRCQNIEEEVELPDVDYLRTMTHIVFVDFDNWSNFFGHLP
GHLNQGTFIWGFQGGNTNWKPPLSCKVYNYLSRIGCFFLHPRCSKRKDAADFAICMHAGR
LDEQLPKQIPFTILSGDQGFLELENQFKKTQRPAHILNPHHLEGDMMCALLNSISDTTKE
CDSDDSSGMKGSPAEELRATEDVELEEAIRRSLEEM*
|
| homology | 99.62 (1057 / 1057) |
|