Reports |
substitution |
cSNPs | 2 |
Insertion | 19 |
Deletion | 30 |
SNPs |
-1kb
5'UTR
CDS
3'UTR
INTRON
21241232(c.-22+573T>C),
21241492(c.-22+833G>T),
21242267(c.-22+1608C>T),
21242565(c.-22+1906A>G),
21242757(c.-22+2098T>G),
21242817(c.-22+2158A>G),
21242867(c.-22+2208T>C),
21242899(c.-22+2240T>C),
21243074(c.-22+2415T>G),
21243094(c.-22+2435T>A),
21243095(c.-22+2436G>A),
21243101(c.-22+2442T>C),
21243159(c.-22+2500G>A),
21243217(c.-22+2558G>T),
21243231(c.-22+2572A>C),
21243316(c.-22+2657C>G),
21243371(c.-22+2712G>T),
21243454(c.-22+2795G>T),
21243484(c.-22+2825G>C),
21243521(c.-22+2862A>T),
21243550(c.-22+2891T>C),
21243554(c.-22+2895A>T),
21243578(c.-22+2919G>A),
21243597(c.-22+2938T>C),
21243606(c.-22+2947A>T),
21243618(c.-22+2959A>G),
21243790(c.-22+3131G>C),
21243803(c.-22+3144C>T),
21243975(c.-22+3316C>T),
21243989(c.-22+3330A>G),
21244092(c.-22+3433T>C),
21244095(c.-22+3436T>G),
21244112(c.-22+3453A>G),
21244154(c.-22+3495C>T),
21244264(c.-22+3605A>G),
21244323(c.-22+3664C>A),
21244476(c.-22+3817A>G),
21244485(c.-22+3826A>C),
21244619(c.-22+3960G>A),
21244950(c.-22+4291T>G),
21245000(c.-22+4341G>C),
21245050(c.-22+4391A>G),
21245183(c.-22+4524T>C),
21245326(c.-21-4425G>A),
21245327(c.-21-4424G>A),
21245458(c.-21-4293A>G),
21245539(c.-21-4212T>C),
21245578(c.-21-4173T>C),
21245794(c.-21-3957G>A),
21245896(c.-21-3855T>C),
21245988(c.-21-3763C>T),
21246066(c.-21-3685A>T),
21246095(c.-21-3656T>A),
21246122(c.-21-3629C>G),
21246141(c.-21-3610T>C),
21246182(c.-21-3569T>C),
21246367(c.-21-3384T>C),
21246375(c.-21-3376G>A),
21246380(c.-21-3371C>T),
21246486(c.-21-3265A>G),
21246488(c.-21-3263A>G),
21246553(c.-21-3198A>G),
21246614(c.-21-3137G>C),
21246832(c.-21-2919G>T),
21247063(c.-21-2688T>C),
21247202(c.-21-2549C>A),
21247276(c.-21-2475A>G),
21247284(c.-21-2467C>T),
21247890(c.-21-1861G>A),
21248097(c.-21-1654G>A),
21248324(c.-21-1427C>A),
21248370(c.-21-1381T>C),
21248426(c.-21-1325T>G),
21248516(c.-21-1235G>C),
21248517(c.-21-1234G>C),
21248529(c.-21-1222G>A),
21248805(c.-21-946C>T),
21248826(c.-21-925C>T),
21249157(c.-21-594A>G),
21250018(c.87+160C>T),
21250389(c.87+531G>A),
21250886(c.87+1028T>G),
21251222(c.87+1364A>G),
21251254(c.87+1396A>G),
21251255(c.87+1397G>T),
21251273(c.87+1415A>G),
21251350(c.87+1492T>C),
21251394(c.87+1536T>C),
21251623(c.87+1765T>G),
21251711(c.87+1853A>C),
21252069(c.87+2211T>C),
21252100(c.87+2242T>C),
21252120(c.87+2262T>C),
21252709(c.87+2851T>G),
21252713(c.87+2855T>C),
21252766(c.87+2908C>G),
21252768(c.87+2910G>A),
21252861(c.87+3003C>A),
21252946(c.87+3088T>G),
21252984(c.87+3126G>A),
21253168(c.87+3310C>A),
21253172(c.87+3314C>T),
21253174(c.87+3316T>C),
21253178(c.87+3320A>G),
21253195(c.87+3337T>A),
21253237(c.87+3379C>T),
21253347(c.87+3489G>A),
21253371(c.87+3513A>G),
21253488(c.87+3630A>T),
21253536(c.87+3678A>G),
21253538(c.87+3680A>G),
21253587(c.87+3729A>C),
21253607(c.88-3724C>T),
21253670(c.88-3661G>C),
21253672(c.88-3659A>T),
21253719(c.88-3612A>C),
21253726(c.88-3605T>C),
21253743(c.88-3588A>C),
21253797(c.88-3534A>T),
21253810(c.88-3521G>A),
21253817(c.88-3514T>C),
21253818(c.88-3513C>T),
21253906(c.88-3425T>C),
21253910(c.88-3421T>C),
21253936(c.88-3395T>C),
21253937(c.88-3394G>A),
21253944(c.88-3387C>T),
21253988(c.88-3343A>G),
21253994(c.88-3337A>G),
21254061(c.88-3270G>A),
21254063(c.88-3268A>G),
21254121(c.88-3210C>A),
21254122(c.88-3209A>G),
21254138(c.88-3193T>A),
21254160(c.88-3171A>C),
21254205(c.88-3126G>T),
21254241(c.88-3090G>A),
21254248(c.88-3083A>G),
21254252(c.88-3079G>A),
21254258(c.88-3073A>G),
21255114(c.88-2217A>C),
21255171(c.88-2160A>T),
21255250(c.88-2081T>C),
21255261(c.88-2070T>G),
21255283(c.88-2048A>T),
21255334(c.88-1997A>G),
21255416(c.88-1915G>A),
21255498(c.88-1833A>G),
21255506(c.88-1825G>A),
21255512(c.88-1819T>C),
21255582(c.88-1749T>C),
21255590(c.88-1741T>A),
21255649(c.88-1682T>G),
21255762(c.88-1569A>G),
21255821(c.88-1510A>G),
21255823(c.88-1508G>T),
21255993(c.88-1338T>C),
21256027(c.88-1304G>T),
21256143(c.88-1188T>C),
21256182(c.88-1149A>G),
21256183(c.88-1148T>C),
21256224(c.88-1107A>G),
21256483(c.88-848C>T),
21256550(c.88-781T>G),
21256690(c.88-641A>T),
21256691(c.88-640C>T),
21256911(c.88-420T>C),
21256943(c.88-388T>C),
21256986(c.88-345T>C),
21257077(c.88-254A>T),
21257078(c.88-253A>G),
21257222(c.88-109C>A),
21257224(c.88-107A>C),
21257225(c.88-106A>C),
21257413(c.139+31G>A),
21257460(c.139+78A>G),
21257461(c.139+79T>C),
21257563(c.139+181G>A),
21257645(c.139+263A>G),
21257748(c.139+366C>T),
21257801(c.139+419T>C),
21257899(c.139+517G>T),
21257945(c.139+563G>A),
21258040(c.139+658A>C),
21258093(c.139+711A>G),
21258252(c.140-596G>T),
21258321(c.140-527A>G),
21258353(c.140-495G>A),
21258401(c.140-447C>G),
21258454(c.140-394G>T),
21258584(c.140-264G>A),
21258727(c.140-121T>C),
21258805(c.140-43G>A),
21258807(c.140-41T>G),
21259104(c.272+124A>G),
21259164(c.272+184G>A),
21259188(c.272+208A>G),
21259210(c.272+230A>G),
21259306(c.272+326T>C),
21259326(c.272+346A>G),
21259472(c.272+492T>C),
21259514(c.272+534G>A),
21259518(c.273-530A>T),
21259693(c.273-355T>C),
21259771(c.273-277A>G),
21259844(c.273-204A>C),
21259848(c.273-200T>C),
21260012(c.273-36A>G),
21260032(c.273-16T>C),
21260681(c.414+492G>A),
21260689(c.414+500A>T),
21260707(c.414+518C>T),
21260723(c.414+534T>G),
21260731(c.414+542G>A),
21260747(c.414+558A>G),
21260767(c.414+578A>G),
21260998(c.414+809A>G),
21261274(c.414+1085T>A),
21261353(c.414+1164A>C),
21261464(c.414+1275A>G),
21261496(c.415-1297C>G),
21261498(c.415-1295C>T),
21261503(c.415-1290T>A),
21261505(c.415-1288G>A),
21261594(c.415-1199A>G),
21261747(c.415-1046A>C),
21261805(c.415-988C>A),
21261858(c.415-935G>A),
21261880(c.415-913T>C),
21261947(c.415-846A>T),
21261957(c.415-836T>C),
21261965(c.415-828T>A),
21261985(c.415-808T>C),
21261996(c.415-797A>G),
21262033(c.415-760G>A),
21262044(c.415-749G>A),
21262050(c.415-743C>G),
21262100(c.415-693G>C),
21262110(c.415-683C>T),
21262111(c.415-682A>G),
21262147(c.415-646A>C),
21262387(c.415-406A>G),
21262393(c.415-400T>C),
21262546(c.415-247T>C),
21262549(c.415-244T>C),
21262558(c.415-235G>A),
21262562(c.415-231A>G),
21262620(c.415-173G>A),
21262684(c.415-109A>G),
21262720(c.415-73A>G),
21262768(c.415-25T>C),
21263163(c.546+239C>T),
21263173(c.546+249C>T),
21263542(c.546+618A>C),
21263563(c.546+639T>C),
21263674(c.546+750T>G),
21263706(c.546+782A>G),
21263715(c.546+791G>C),
21263775(c.546+851A>C),
21263814(c.546+890C>T),
21263837(c.546+913C>T),
21264014(c.547-829G>A),
21264024(c.547-819A>G),
21264064(c.547-779C>T),
21264081(c.547-762C>T),
21264159(c.547-684T>A),
21264243(c.547-600C>T),
21264336(c.547-507T>C),
21264359(c.547-484G>A),
21264377(c.547-466A>G),
21264378(c.547-465G>A),
21264390(c.547-453G>A),
21264510(c.547-333T>C),
21264599(c.547-244A>G),
21264638(c.547-205G>A),
21264760(c.547-83A>G),
21264808(c.547-35G>A),
21264813(c.547-30C>A),
+1kb
21265746(c.*784A>G),
21265773(c.*811T>C),
21265842(c.*880A>C),
21266098(c.*1136T>C),
21266377(c.*1415T>C),
21266444(c.*1482T>C),
21266471(c.*1509G>C),
21266515(c.*1553C>G),
21266564(c.*1602A>G),
21266615(c.*1653T>C),
21266738(c.*1776C>A),
21266933(c.*1971T>C),
21267041(c.*2079G>C),
21267074(c.*2112A>T),
21267319(c.*2357T>C),
21267323(c.*2361C>T),
21267439(c.*2477C>A),
21267442(c.*2480T>G),
21267573(c.*2611C>T),
21267648(c.*2686G>A),
21267658(c.*2696A>G),
21267664(c.*2702A>T),
21267701(c.*2739T>C),
21267710(c.*2748G>A),
21267717(c.*2755C>T),
21267720(c.*2758A>C),
21267729(c.*2767C>T),
21267756(c.*2794T>G),
21267768(c.*2806A>C),
21267852(c.*2890C>T),
21267903(c.*2941C>T),
21267912(c.*2950A>C),
21267937(c.*2975T>C),
21267990(c.*3028T>C),
21267994(c.*3032T>A),
21268140(c.*3178G>T),
21268163(c.*3201C>T),
21268184(c.*3222G>A),
21268238(c.*3276A>G),
21268272(c.*3310C>A),
21268291(c.*3329A>G),
21268390(c.*3428A>C),
21268530(c.*3568G>A),
21268539(c.*3577A>C),
21268657(c.*3695G>A),
21270440(c.*5478T>C),
21270478(c.*5516G>C),
21270545(c.*5583T>G),
21270554(c.*5592C>A),
21270610(c.*5648C>T),
21270630(c.*5668T>A),
21270636(c.*5674G>T),
21270643(c.*5681A>G),
21270661(c.*5699G>T),
|
Insertions |
-1kb
5'UTR
CDS
3'UTR
INTRON
21245965 (c.-21-3786dupT),
21246380 (c.-21-3371_-21-3370insA),
21247294 (c.-21-2457_-21-2456insT),
21250142 (c.87+285_87+286insGC),
21251675 (c.87+1818_87+1819insGT),
21252639 (c.87+2784_87+2785insGTTATGT),
21254812 (c.88-2519_88-2518insC),
21257225 (c.88-106_88-105insC),
21257490 (c.139+108dupG),
21259105 (c.272+125_272+126insG),
21259445 (c.272+471dupT),
21259450 (c.272+470_272+471dupTT),
21261840 (c.415-952_415-951dupAT),
21262495 (c.415-298_415-297insC),
+1kb
|
Deletions |
-1kb
5'UTR
CDS
3'UTR
INTRON
21243036 (c.-22+2386_-22+2390delTTTTT),
21243961 (c.-22+3311delA),
21245963 (c.-21-3787_-21-3782delATCATC),
21247668 (c.-21-2080delG),
21248501 (c.-21-1249_-21-1239delTGGCGGGGGTC),
21248517 (c.-21-1233_-21-1229delGAGGA),
21249529 (c.-21-211_-21-210delAA),
21251358 (c.87+1502delT),
21252053 (c.87+2196delT),
21252625 (c.87+2768_87+2769delAA),
21254655 (c.88-2663delT),
21254996 (c.88-2325_88-2324delTA),
21255564 (c.88-1756_88-1753delTTTT),
21256388 (c.88-935delA),
21257225 (c.88-105_88-103delACT),
21257236 (c.88-94delT),
21257520 (c.139+139delC),
21259400 (c.272+421delA),
21261572 (c.415-1212delC),
21263425 (c.546+503delA),
+1kb
|
coding sequence substitutions |
premature termination by the nucleotide substitution | 0 |
synonymous num | 1 |
non-synonymous num | 1 |
synonymous substitutions |
21260093 (p.Ile106Ile),
|
non-synonymous substitutions |
21264865 (p.Asn190Thr),
|
B6 transcript
(ENSMUST00000027067)
|
MAGKPVLHYFDGRGRMEPIRWLLAAAGVEFEEKFLKTRDDLARLRSDGSLMFQQVPMVEI
DGMKLVQTKAILNYIASKYNLYGKDMKERAIIDMYTEGVADLEIMILYYPHMPPEEKEAS
LAKIKEQTRNRYFPAFEKVLKSHGQDYLVGNRLSRADIALVELLYHVEELDPGVVDNFPL
LKALRSRVSNLPTVKKFLQPGSQRKPFDDAKCVESAKKIFS*
|
MSMv4 transcript
|
MAGKPVLHYFDGRGRMEPIRWLLAAAGVEFEEKFLKTRDDLARLRSDGSLMFQQVPMVEI
DGMKLVQTKAILNYIASKYNLYGKDMKERAIIDMYTEGVADLEIMILYYPHMPPEEKEAS
LAKIKEQTRNRYFPAFEKVLKSHGQDYLVGNRLSRADIALVELLYHVEELDPGVVDNFPL
LKALRSRVSTLPTVKKFLQPGSQRKPFDDAKCVESAKKIFS*
|
homology | 99.55 (222 / 222) |
|