Reports |
substitution |
cSNPs | 8 |
Insertion | 40 |
Deletion | 57 |
SNPs |
+1kb
20728862(c.-705A>G),
20729019(c.-862G>A),
20729055(c.-898T>C),
20729309(c.-1152G>A),
20729348(c.-1191A>C),
20729388(c.-1231G>A),
20729440(c.-1283C>G),
20729481(c.-1324A>G),
20729914(c.-1757C>T),
20729919(c.-1762G>A),
20729921(c.-1764G>A),
20729934(c.-1777G>C),
20729982(c.-1825T>A),
20729993(c.-1836A>G),
20730035(c.-1878T>C),
20730040(c.-1883T>C),
20730047(c.-1890G>C),
20730085(c.-1928G>C),
20730289(c.-2132C>T),
20730320(c.-2163C>T),
20730390(c.-2233A>G),
20730444(c.-2287C>T),
20730508(c.-2351A>G),
20730521(c.-2364C>A),
20730530(c.-2373C>T),
20730543(c.-2386C>T),
20730670(c.-2513A>C),
20730726(c.-2569C>T),
20730758(c.-2601G>A),
20730803(c.-2646T>C),
20730983(c.-2826T>A),
20730987(c.-2830T>C),
20731040(c.-2883A>G),
20731042(c.-2885T>C),
20731116(c.-2959T>G),
20731132(c.-2975G>A),
20731232(c.-3075G>A),
20731338(c.-3181G>T),
20731350(c.-3193A>C),
20731945(c.-3788T>C),
20732024(c.-3867C>T),
20732084(c.-3927G>T),
20732153(c.-3996C>A),
20732325(c.-4168C>T),
20732386(c.-4229A>T),
20732474(c.-4317C>T),
20732611(c.-4454G>A),
20732638(c.-4481G>A),
20732648(c.-4491G>A),
20732713(c.-4556T>C),
20732732(c.-4575A>G),
20732753(c.-4596G>A),
20732881(c.-4724G>A),
20732933(c.-4776A>G),
20732977(c.-4820C>T),
20732978(c.-4821G>T),
20732996(c.-4839T>C),
20733060(c.-4903A>T),
20733143(c.-4986C>T),
20733180(c.-5023G>A),
20733214(c.-5057A>G),
5'UTR
CDS
3'UTR
INTRON
20669056(c.670-272T>C),
20669535(c.670-751C>T),
20670380(c.669+1320A>T),
20671287(c.669+413T>C),
20671377(c.669+323T>C),
20671489(c.669+211A>G),
20671816(c.563-10T>C),
20672002(c.562+133T>G),
20672015(c.562+120A>C),
20672087(c.562+48T>A),
20672408(c.343-54C>G),
20672412(c.343-58T>G),
20672548(c.342+79G>A),
20672571(c.342+56G>T),
20672623(c.342+4G>A),
20672828(c.196-55T>A),
20672847(c.196-74G>A),
20672854(c.196-81G>A),
20672876(c.196-103C>A),
20672890(c.196-117G>T),
20672904(c.196-131T>C),
20673133(c.196-360A>G),
20673306(c.196-533T>C),
20673625(c.196-852G>A),
20673630(c.196-857C>A),
20673726(c.196-953C>T),
20673902(c.196-1129A>G),
20673976(c.196-1203A>G),
20674155(c.196-1382A>G),
20674238(c.195+1336G>T),
20674261(c.195+1313T>C),
20674269(c.195+1305T>C),
20674399(c.195+1175A>G),
20674512(c.195+1062T>A),
20674564(c.195+1010G>A),
20674566(c.195+1008T>C),
20674813(c.195+761A>G),
20674818(c.195+756C>T),
20674845(c.195+729C>T),
20674859(c.195+715G>A),
20674951(c.195+623G>T),
20674963(c.195+611G>T),
20675024(c.195+550C>T),
20675306(c.195+268A>G),
20675319(c.195+255T>C),
20675335(c.195+239A>T),
20675337(c.195+237T>C),
20675345(c.195+229T>C),
20675386(c.195+188G>T),
20675444(c.195+130C>G),
20675745(c.46-22A>G),
20675772(c.46-49A>G),
20675804(c.46-81T>C),
20675905(c.46-182G>A),
20675950(c.46-227T>G),
20675969(c.46-246G>A),
20676222(c.46-499G>A),
20676350(c.46-627A>C),
20676467(c.46-744G>T),
20676510(c.46-787C>T),
20676685(c.46-962C>T),
20676749(c.46-1026A>C),
20676918(c.46-1195C>A),
20677043(c.46-1320A>C),
20677321(c.46-1598C>T),
20677364(c.46-1641T>C),
20677402(c.46-1679T>C),
20677412(c.46-1689G>C),
20677428(c.46-1705T>C),
20677470(c.46-1747A>T),
20677479(c.46-1756T>C),
20677769(c.46-2046A>G),
20678700(c.46-2977C>T),
20678743(c.46-3020T>A),
20679363(c.46-3640C>A),
20679526(c.46-3803T>C),
20679760(c.46-4037A>T),
20680147(c.46-4424T>G),
20681006(c.46-5283G>C),
20681647(c.46-5924A>G),
20682084(c.46-6361T>C),
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20682137(c.46-6414T>C),
20682162(c.46-6439A>G),
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20682331(c.46-6608C>T),
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20684395(c.46-8672G>A),
20684484(c.46-8761G>C),
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20684540(c.46-8817C>T),
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20684720(c.46-8997G>A),
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20685467(c.46-9744G>A),
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20685471(c.46-9748G>A),
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20685557(c.46-9834A>G),
20685672(c.46-9949C>T),
20685686(c.46-9963C>T),
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20685715(c.46-9992G>A),
20685772(c.46-10049C>G),
20685892(c.46-10169A>G),
20686953(c.46-11230T>G),
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20687168(c.46-11445T>C),
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20687270(c.46-11547A>G),
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20687451(c.46-11728C>T),
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20687723(c.46-12000A>G),
20687890(c.46-12167T>G),
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20688152(c.46-12429A>G),
20688262(c.46-12539A>G),
20688286(c.46-12563A>G),
20688487(c.46-12764A>G),
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20693749(c.46-18026C>T),
20694310(c.46-18587A>G),
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20695160(c.46-19437C>T),
20696294(c.46-20571T>C),
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20697279(c.46-21556T>C),
20697354(c.46-21631T>C),
20697358(c.46-21635G>T),
20697519(c.46-21796C>T),
20697814(c.46-22091A>C),
20697904(c.46-22181A>G),
20698028(c.46-22305T>C),
20698142(c.46-22419T>C),
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20698265(c.46-22542A>G),
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20699481(c.46-23758G>A),
20699486(c.46-23763G>A),
20699498(c.46-23775T>A),
20699527(c.46-23804A>G),
20699537(c.46-23814A>G),
20699573(c.46-23850T>A),
20699707(c.46-23984A>G),
20699721(c.46-23998T>C),
20699882(c.46-24159A>C),
20700338(c.46-24615A>C),
20700690(c.46-24967T>A),
20700726(c.46-25003A>C),
20700727(c.46-25004T>C),
20700754(c.46-25031T>C),
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20700912(c.46-25189C>G),
20700915(c.46-25192G>C),
20701048(c.46-25325G>T),
20701417(c.46-25694A>G),
20701856(c.46-26133A>G),
20702036(c.45+26077A>C),
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20702468(c.45+25645T>A),
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20702924(c.45+25189T>C),
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20703416(c.45+24697A>C),
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20705151(c.45+22962G>A),
20705194(c.45+22919G>A),
20705277(c.45+22836C>T),
20705284(c.45+22829C>T),
20705297(c.45+22816C>T),
20705312(c.45+22801G>A),
20705530(c.45+22583G>T),
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20706980(c.45+21133C>T),
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-1kb
20663539(c.*4568C>T),
20663782(c.*4325A>G),
20664033(c.*4074G>T),
20664218(c.*3889T>G),
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20666358(c.*1749T>C),
20666392(c.*1715A>G),
20666540(c.*1567A>G),
20666753(c.*1354T>A),
20666797(c.*1310T>A),
20666805(c.*1302T>G),
20666849(c.*1258T>C),
20666851(c.*1256C>T),
20666953(c.*1154C>A),
20667056(c.*1051G>A),
20667211(c.*896G>A),
20667846(c.*261T>C),
|
Insertions |
+1kb
5'UTR
CDS
3'UTR
INTRON
20672107 (c.562+27dupC),
20673020 (c.196-248_196-247insTAG),
20673666 (c.196-894_196-893insA),
20674038 (c.196-1267_196-1266dupAC),
20674042 (c.196-1270_196-1269insAC),
20674134 (c.196-1363_196-1362dupCA),
20674819 (c.195+754_195+755insAA),
20675066 (c.195+504_195+507dupCTTA),
20675398 (c.195+175dupA),
20676237 (c.46-515_46-514insTCATG),
20677112 (c.46-1390_46-1389insT),
20677197 (c.46-1475_46-1474insATCCCG),
20677303 (c.46-1581dupC),
20677306 (c.46-1584_46-1583insC),
20679990 (c.46-4268_46-4267insGCCAGCC),
20684527 (c.46-8805_46-8804insA),
20685590 (c.46-9868dupA),
20686852 (c.46-11130_46-11129insT),
20688451 (c.46-12729_46-12728insG),
20688457 (c.46-12735_46-12734insG),
20691143 (c.46-15421dupT),
20692517 (c.46-16795_46-16794insTA),
20694525 (c.46-18803_46-18802insTCCT),
20702394 (c.45+25717_45+25718dupTG),
20705958 (c.45+22152_45+22154dupACA),
20709943 (c.45+18169_45+18170insTCGTCG),
20714510 (c.45+13602_45+13603insTTTT),
20717536 (c.45+10575_45+10576dupGT),
20718369 (c.45+9743_45+9744insG),
20719754 (c.45+8355_45+8358dupAAGA),
20721446 (c.45+6660_45+6666dupATTTATT),
20723491 (c.45+4620_45+4621dupCT),
20724069 (c.45+4043_45+4044insA),
20724442 (c.45+3670dupT),
20724740 (c.45+3370_45+3372dupGGG),
-1kb
|
Deletions |
+1kb
5'UTR
CDS
3'UTR
INTRON
20671545 (c.669+153_669+154delAA),
20672503 (c.342+123delG),
20672850 (c.196-78delG),
20673688 (c.196-916delA),
20673953 (c.196-1184_196-1181delTGCG),
20676545 (c.46-829_46-823delCTGCCTC),
20678361 (c.46-2651_46-2639delCACACACGCACAC),
20683653 (c.46-7932_46-7931delGA),
20683787 (c.46-8073_46-8065delAACAACAAC),
20684648 (c.46-8927_46-8926delTG),
20686647 (c.46-10926_46-10925delCA),
20686980 (c.46-11258delG),
20687307 (c.46-11585delA),
20687870 (c.46-12151_46-12148delTCTC),
20687881 (c.46-12159delG),
20688317 (c.46-12598_46-12595delCACT),
20688429 (c.46-12712_46-12707delAAAACA),
20688691 (c.46-12970_46-12969delAG),
20689180 (c.46-13465_46-13458delCTCTCTCT),
20690363 (c.46-14641delC),
20692540 (c.46-16818delT),
20692549 (c.46-16827delT),
20693501 (c.46-17784_46-17779delTTTGCT),
20693578 (c.46-17857_46-17856delTG),
20694263 (c.46-18541delA),
20694336 (c.46-18617_46-18614delTAAA),
20694356 (c.46-18637_46-18634delTAAA),
20695266 (c.46-19544delA),
20696051 (c.46-20336_46-20329delCATACATA),
20698482 (c.46-22760delA),
20699627 (c.46-23912_46-23905delACAAACAA),
20706631 (c.45+21480_45+21481delGG),
20709467 (c.45+18645delG),
20709966 (c.45+18144_45+18146delCAT),
20709981 (c.45+18129_45+18131delCAT),
20710702 (c.45+17410delG),
20712168 (c.45+15938_45+15944delGTGTGTA),
20713647 (c.45+14462_45+14465delAGGG),
20715277 (c.45+12834_45+12835delGT),
20716265 (c.45+11847delT),
20716602 (c.45+11510delC),
20717899 (c.45+10213delT),
20718197 (c.45+9914_45+9915delGT),
20723369 (c.45+4738_45+4743delCCTTGG),
20723709 (c.45+4402_45+4403delCT),
20723857 (c.45+4248_45+4255delTCTTTCCT),
-1kb
|
coding sequence substitutions |
premature termination by the nucleotide substitution | 0 |
synonymous num | 8 |
non-synonymous num | 0 |
synonymous substitutions |
20671766 (p.Ile201Ile),
20672295 (p.Lys134Lys),
20672663 (p.Arg102Arg),
20672686 (p.Arg95Arg),
20672759 (p.Ser70Ser),
20675598 (p.Arg57Arg),
20675685 (p.Tyr28Tyr),
20675688 (p.Leu27Leu),
|
non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000034692)
|
MRKLRQTGTTIAGGQTLFQSPEEGWQLYTSAQAPDGKCVCTAVIPAQSTCARDGRSRELR
QLMEKVQNVSQSMEVLELRTFRDLQYVRSMETLMRSLDARLRAADGSVSAKSFQELKDRM
TELLPLSSVLEQYKADTRTIVRLREEVRNLSGNLAAIQEEMGAYGYEDLQQRVMALEARL
HACAQKLGCGKLTGVSNPITIRAMGSRFGSWMTDTMAPSADSRVWYMDGYYKGRRVLEFR
TLGDFIKGQNFIQHLLPQPWAGTGHVVYNGSLFYNKYQSNVVVKYHFRSRSVLVQRSLPG
AGYNNTFPYSWGGFSDMDFMVDESGLWAVYTTNQNAGNIVVSRLDPHTLEVVRSWDTGYP
KRSAGEAFMICGVLYVTNSHLAGAKVYFAYFTNTSSYEYTDVPFHNQYSHISMLDYNPRE
RALYTWNNGHQVLYNVTLFHVISTAGDP*
|
MSMv4 transcript
|
MRKLRQTGTTIAGGQTLFQSPEEGWQLYTSAQAPDGKCVCTAVIPAQSTCARDGRSRELR
QLMEKVQNVSQSMEVLELRTFRDLQYVRSMETLMRSLDARLRAADGSVSAKSFQELKDRM
TELLPLSSVLEQYKADTRTIVRLREEVRNLSGNLAAIQEEMGAYGYEDLQQRVMALEARL
HACAQKLGCGKLTGVSNPITIRAMGSRFGSWMTDTMAPSADSRVWYMDGYYKGRRVLEFR
TLGDFIKGQNFIQHLLPQPWAGTGHVVYNGSLFYNKYQSNVVVKYHFRSRSVLVQRSLPG
AGYNNTFPYSWGGFSDMDFMVDESGLWAVYTTNQNAGNIVVSRLDPHTLEVVRSWDTGYP
KRSAGEAFMICGVLYVTNSHLAGAKVYFAYFTNTSSYEYTDVPFHNQYSHISMLDYNPRE
RALYTWNNGHQVLYNVTLFHVISTAGDP*
|
homology | 100.00 (449 / 449) |
|