-1kb

43527648(c.-5920T>C), 43527654(c.-5914T>C), 43527739(c.-5829T>C), 43527759(c.-5809T>C), 43527761(c.-5807T>G), 43527782(c.-5786C>T), 43528095(c.-5473C>T), 43528156(c.-5412A>G), 43528217(c.-5351C>T), 43528273(c.-5295T>A), 43528309(c.-5259A>C), 43528397(c.-5171T>C), 43528456(c.-5112A>C), 43528610(c.-4958A>G), 43528828(c.-4740T>C), 43528842(c.-4726G>A), 43528859(c.-4709C>G), 43528906(c.-4662C>A), 43528909(c.-4659T>C), 43528914(c.-4654C>T), 43528940(c.-4628T>C), 43528948(c.-4620G>A), 43528994(c.-4574G>A), 43528995(c.-4573A>G), 43529070(c.-4498A>T), 43529119(c.-4449T>C), 43529130(c.-4438T>A), 43529163(c.-4405T>A), 43529164(c.-4404A>T), 43529178(c.-4390T>C), 43529187(c.-4381T>C), 43529242(c.-4326G>A), 43529516(c.-4052A>G), 43529559(c.-4009T>C), 43529725(c.-3843C>T), 43530268(c.-3300T>C), 43530356(c.-3212T>C), 43530495(c.-3073C>T), 43530641(c.-2927A>G), 43530662(c.-2906A>G), 43530958(c.-2610G>A), 43531008(c.-2560A>G), 43531011(c.-2557T>A), 43531115(c.-2453G>A), 43531257(c.-2311A>G), 43531298(c.-2270T>A), 43531329(c.-2239G>A), 43531336(c.-2232G>A), 43531379(c.-2189G>A), 43531525(c.-2043C>A), 43531911(c.-1657C>G), 43531959(c.-1609A>T), 43531971(c.-1597T>A), 43531979(c.-1589A>G),

5'UTR

CDS

43533699(c.132T>G), 43553958(c.324C>T),

3'UTR

INTRON

43532698(c.-17+160T>C), 43532797(c.-17+259T>C), 43532820(c.-17+282C>A), 43533122(c.-16-430G>T), 43533151(c.-16-401A>G), 43533171(c.-16-381A>G), 43533183(c.-16-369C>T), 43533335(c.-16-217A>G), 43533369(c.-16-183A>G), 43533399(c.-16-153C>T), 43533444(c.-16-108C>G), 43533494(c.-16-58C>G), 43533822(c.226+29G>A), 43533888(c.226+95A>G), 43534358(c.226+565C>T), 43534415(c.226+622G>A), 43534537(c.226+744C>A), 43534552(c.226+759G>A), 43535069(c.226+1276T>A), 43535408(c.226+1615A>G), 43535703(c.226+1910G>T), 43535729(c.226+1936C>T), 43535999(c.226+2206G>A), 43536012(c.226+2219C>T), 43536283(c.226+2490A>G), 43536427(c.226+2634A>G), 43536455(c.226+2662A>G), 43536787(c.226+2994C>A), 43537043(c.226+3250T>C), 43537190(c.226+3397C>A), 43537217(c.226+3424A>G), 43537269(c.226+3476C>T), 43537373(c.226+3580T>C), 43537612(c.226+3819T>C), 43537621(c.226+3828A>G), 43537750(c.226+3957C>T), 43537793(c.226+4000C>T), 43537794(c.226+4001C>G), 43538036(c.226+4243T>A), 43538331(c.226+4538A>G), 43538421(c.226+4628G>A), 43538551(c.226+4758C>T), 43538882(c.226+5089G>A), 43538913(c.226+5120C>T), 43539145(c.226+5352G>A), 43539146(c.226+5353T>G), 43539274(c.226+5481G>A), 43539459(c.226+5666T>C), 43539610(c.226+5817A>G), 43539755(c.226+5962C>T), 43539939(c.226+6146T>C), 43539945(c.226+6152T>G), 43539972(c.226+6179A>G), 43539981(c.226+6188A>C), 43540001(c.226+6208A>G), 43540066(c.226+6273T>C), 43540067(c.226+6274G>T), 43540095(c.226+6302A>G), 43540167(c.226+6374A>G), 43540168(c.226+6375C>A), 43540433(c.226+6640C>T), 43540469(c.226+6676T>C), 43540831(c.226+7038C>A), 43540948(c.226+7155C>T), 43541113(c.226+7320A>G), 43541257(c.226+7464G>A), 43541260(c.226+7467G>C), 43541261(c.226+7468G>A), 43541340(c.226+7547A>C), 43541417(c.226+7624T>C), 43541433(c.226+7640T>C), 43541497(c.226+7704A>G), 43541619(c.226+7826A>G), 43541708(c.226+7915A>G), 43541762(c.226+7969T>C), 43541794(c.226+8001A>C), 43541833(c.226+8040G>A), 43541915(c.226+8122T>A), 43541992(c.226+8199C>T), 43542076(c.226+8283C>T), 43542080(c.226+8287C>T), 43542081(c.226+8288T>G), 43542092(c.226+8299G>A), 43542133(c.226+8340G>A), 43542166(c.226+8373G>A), 43542265(c.226+8472C>G), 43542428(c.226+8635A>G), 43542559(c.226+8766A>G), 43542604(c.226+8811T>G), 43542608(c.226+8815G>A), 43542661(c.226+8868C>G), 43542671(c.226+8878T>C), 43542690(c.226+8897A>G), 43543130(c.226+9337G>A), 43543180(c.226+9387A>G), 43543243(c.226+9450A>T), 43543399(c.226+9606A>G), 43543614(c.226+9821A>T), 43543840(c.227-10021G>T), 43543886(c.227-9975T>C), 43544275(c.227-9586C>T), 43544387(c.227-9474G>T), 43544509(c.227-9352G>A), 43544543(c.227-9318G>C), 43544658(c.227-9203G>A), 43544731(c.227-9130G>A), 43544799(c.227-9062T>C), 43544865(c.227-8996G>A), 43545065(c.227-8796G>A), 43545106(c.227-8755G>A), 43545176(c.227-8685G>A), 43545197(c.227-8664G>A), 43545319(c.227-8542G>A), 43545472(c.227-8389T>C), 43545484(c.227-8377T>G), 43545901(c.227-7960G>T), 43546020(c.227-7841A>G), 43546184(c.227-7677A>T), 43546185(c.227-7676C>T), 43546331(c.227-7530T>C), 43546344(c.227-7517C>T), 43546375(c.227-7486T>C), 43546405(c.227-7456C>T), 43546476(c.227-7385T>C), 43547579(c.227-6282A>G), 43547741(c.227-6120T>C), 43547771(c.227-6090C>T), 43547933(c.227-5928A>G), 43547980(c.227-5881C>T), 43548136(c.227-5725G>A), 43548186(c.227-5675T>C), 43548377(c.227-5484A>G), 43548587(c.227-5274G>A), 43548669(c.227-5192T>G), 43548738(c.227-5123T>C), 43549115(c.227-4746C>A), 43549502(c.227-4359G>A), 43549523(c.227-4338G>A), 43549731(c.227-4130G>A), 43549771(c.227-4090C>A), 43550064(c.227-3797G>T), 43550588(c.227-3273G>T), 43550656(c.227-3205T>C), 43550703(c.227-3158G>T), 43550921(c.227-2940G>T), 43550996(c.227-2865G>A), 43551026(c.227-2835C>T), 43551030(c.227-2831G>A), 43551057(c.227-2804G>A), 43551069(c.227-2792A>C), 43551236(c.227-2625A>G), 43551252(c.227-2609G>A), 43551279(c.227-2582A>G), 43551480(c.227-2381G>C), 43551486(c.227-2375C>A), 43551505(c.227-2356A>G), 43551522(c.227-2339A>T), 43551575(c.227-2286C>A), 43551628(c.227-2233G>T), 43551789(c.227-2072T>G), 43552077(c.227-1784C>T), 43552130(c.227-1731A>G), 43552216(c.227-1645G>A), 43552286(c.227-1575A>G), 43552288(c.227-1573T>G), 43552396(c.227-1465T>C), 43552545(c.227-1316C>T), 43552782(c.227-1079T>C), 43552823(c.227-1038G>T), 43552885(c.227-976A>C), 43552896(c.227-965C>T), 43553018(c.227-843C>T), 43553037(c.227-824G>A), 43553070(c.227-791G>A), 43553073(c.227-788C>T), 43553100(c.227-761A>G), 43553144(c.227-717C>T), 43553237(c.227-624C>G), 43553276(c.227-585C>T), 43553344(c.227-517A>G), 43553396(c.227-465C>T), 43553574(c.227-287C>T), 43553819(c.227-42G>A), 43553823(c.227-38G>A), 43553840(c.227-21T>C),

+1kb

43554096(c.*34C>T), 43554130(c.*68T>C), 43554141(c.*79G>A), 43554414(c.*352T>A), 43554426(c.*364T>G), 43554636(c.*574T>C), 43554742(c.*680C>T), 43554892(c.*830G>A), 43554958(c.*896G>C), 43555163(c.*1101T>C), 43555363(c.*1301T>A), 43555371(c.*1309G>C), 43555383(c.*1321C>T), 43555386(c.*1324G>A), 43555388(c.*1326G>A), 43555592(c.*1530G>T), 43555597(c.*1535T>G), 43555687(c.*1625C>A), 43555688(c.*1626A>T), 43555689(c.*1627G>C), 43555690(c.*1628T>A), 43555698(c.*1636A>G), 43556335(c.*2273C>T), 43556423(c.*2361A>C), 43556508(c.*2446G>A), 43556606(c.*2544G>A), 43556791(c.*2729C>T), 43556889(c.*2827G>C), 43556894(c.*2832C>G), 43557035(c.*2973A>G), 43557058(c.*2996A>C), 43557077(c.*3015G>A), 43557100(c.*3038C>T), 43557265(c.*3203T>G), 43557281(c.*3219C>T), 43557292(c.*3230C>T), 43557341(c.*3279A>T), 43557356(c.*3294T>A), 43557364(c.*3302A>T), 43557367(c.*3305A>T), 43557393(c.*3331A>G), 43557398(c.*3336T>C), 43557449(c.*3387A>C), 43557454(c.*3392C>T), 43557466(c.*3404G>A), 43557499(c.*3437G>T), 43557511(c.*3449C>T), 43557580(c.*3518C>T), 43557581(c.*3519T>G), 43557603(c.*3541A>G), 43557611(c.*3549T>C), 43557649(c.*3587A>G), 43557656(c.*3594T>A), 43557686(c.*3624A>T), 43557688(c.*3626G>C), 43557693(c.*3631T>G), 43557822(c.*3760G>C), 43557857(c.*3795T>G), 43557901(c.*3839C>A), 43557976(c.*3914G>A), 43558028(c.*3966A>G), 43558128(c.*4066C>T), 43558138(c.*4076A>G), 43558140(c.*4078C>T), 43558201(c.*4139T>C), 43558207(c.*4145T>C), 43558262(c.*4200G>C), 43558272(c.*4210C>T), 43558304(c.*4242G>A), 43558416(c.*4354T>C), 43558460(c.*4398T>A), 43558471(c.*4409G>A), 43558584(c.*4522A>G), 43558620(c.*4558T>C), 43558744(c.*4682C>G), 43558847(c.*4785T>C), 43558916(c.*4854A>C), 43558971(c.*4909A>G), 43558979(c.*4917G>A),

-1kb

43527604 (c.-5964_-5963insA), 43528596 (c.-4972_-4971insT), 43528824 (c.-4744_-4743insA), 43528834 (c.-4734_-4733insA), 43531172 (c.-2396_-2395insC),

5'UTR

CDS

3'UTR

43532423 (c.-131_-130dupAG),

INTRON

43535469 (c.226+1676dupT), 43535530 (c.226+1747dupA), 43535541 (c.226+1748_226+1749insA), 43537664 (c.226+3875_226+3876dupCT), 43537879 (c.226+4090_226+4091insTCCCA), 43539493 (c.226+5702dupG), 43539882 (c.226+6090_226+6091insTCCCC), 43540562 (c.226+6770_226+6771insACTCG), 43543698 (c.226+9914_226+9915dupTT), 43545546 (c.227-8315_227-8314insTT), 43546139 (c.227-7720_227-7719dupAA), 43546758 (c.227-7103_227-7102insGTC), 43548324 (c.227-5538_227-5537dupGC), 43550006 (c.227-3848_227-3847dupTT), 43551065 (c.227-2796_227-2795insA), 43552936 (c.227-923_227-922insGGA), 43553479 (c.227-379_227-378insACCCCCC),

+1kb

43556203 (c.*2141dupA), 43556205 (c.*2143dupA), 43556351 (c.*2289_*2290insAAAGAA), 43557533 (c.*3471_*3472insT), 43558188 (c.*4126_*4127insT),

-1kb

43529708 (c.-3859delC), 43529884 (c.-3683delC), 43530747 (c.-2820_-2817delAAGG), 43531828 (c.-1739_-1738delGG),

5'UTR

CDS

3'UTR

INTRON

43533283 (c.-16-264delT), 43533873 (c.226+82_226+83delCG), 43536433 (c.226+2642_226+2643delAA), 43536571 (c.226+2779delT), 43536739 (c.226+2955delT), 43537789 (c.226+3997_226+3998delTC), 43540953 (c.226+7162_226+7168delAATAAAA), 43541357 (c.226+7565delC), 43541578 (c.226+7788delA), 43542962 (c.226+9171delT), 43545225 (c.227-8634delC), 43545474 (c.227-8386_227-8385delCT), 43546127 (c.227-7733_227-7731delTTT), 43547318 (c.227-6535delT), 43548446 (c.227-5414_227-5407delTCATTCAT), 43552803 (c.227-1057_227-1050delCACATAAA), 43553117 (c.227-737_227-736delAA),

+1kb

43555750 (c.*1689_*1690delTG), 43556130 (c.*2069_*2070delAG), 43557147 (c.*3086delT), 43557339 (c.*3278delA), 43557467 (c.*3406_*3408delAGA), 43558917 (c.*4856delT),

MTEEVIVIAKWDYTAQQDQELDIRKNERLWLLDDSKTWWRVRNAANRTGYVPSNYVERKN
SLKKGSLVKNLKDTLGLGKTRRKPSARDASPTPSTDAEYPANGSGADRIYDLNIPAFVKF
AYVAEREDELSLVKGSRVTVME

MTEEVIVIAKWDYTAQQDQELDIRKNERLWLLDDSKTWWRVRNAANRTGYVPSNYVERKN
SLKKGSLVKNLKDTLGLGKTRRKPSARDASPTPSTDAEYPANGSGADRIYDLNIPAFVKF
AYVAEREDELSLVKGSRVTVME

..........ACCTGCACTTGGTGCCTGCTGCATCCCTTAGCAACTGCTGCACATTTCTG
GCCTCTCCAACACCCTGTTCTGTGGCTTAGCAGGAAGCTGTGTTTTTATAAGCCTTATGC
TTTCAGCATGAACTGAAATAAACGCATCCAAGTCCTCTCATAACGACTGTTGATGCAGAA
GGAAATTCAGTAGAGAGCGTTGGTTGGCTGGATATCAACTGATTTACATGATGATCTGCT
CCTATTTAAAATCATTTTGGAAATTATATAATTCGGCAGCAGACCTGGTATTTAAATGGA
ATCCCCTCTGAACCTCTTTTTTATTACTATTGTTCTTGTCCTTGACTTTAAAGGAGATGC
TCACTTTGATGCGTTTCGGGTCTAATCTGATAGAGAAATCAGATGTGTGTGCTACAAGCT
ATGGACTGGGGGGAGGGGGGGGGGTCCTCTGACAGCAGGTAGTTAGCTATCTGTCTCCAG
CTTTGAGAAGAACTTTGAGTAAACTCTACCCTCTTGGATATTATGTGCATTATGTATACA
CTTTACAAGAATTTTCATTTTCCCTAATGATTTTTTAATCTAATGTGGTAATTCATAAGT
GAGAAGATACATATTATTTTTATGTGCCTGAATATGGTAGAATGTGTCATTCATGCCTCC
ATGGGTCAGGTGCATAGGTTTCCTGTGACTCTGAACTCATGAGGTAAAATCAGGGGAACT
CTGTCAAGAGGAGAGAGGGGTTTGGGTCACGTATCCTGTCATTACTCCTCAATAACTGAA
GGGTGTGTCCAGTCAGTAGAGGGGCTGACTATGACTTTTCTGCTGCAAGAACACTTGTGC
ATTTTCTACCTGAGAAGGGTACAGTTGCTGAGGTAGGTGGTACCTCTGTGTATTGTTTTC
TTTCCTATCTAGTACATCCCAGATTGACGTCATCGGATTTCTACTGTTTGTTTTAATAAG
AACTAGTTAGGAGACAGCAAGGCAGACTGTTCAGGGGTTCCTACAACAGA

GTTCTACAGTCAGGAAGACAGTTCAGCTCCCCGTGTGGAGATAAGTGGGAGTTTACAGCC
AGAGGGGAGGAGGAATATGCTGTGGAGGGTCCTGAATGAGCTCATCTAACAGGAAGCTTG
CTGAAGGAGACCAG

GTGACCAACCGTCACATGCAGCATG..........GCATCTTTAAATGTTTTGCTGGCAG

AAGGACTCCATGAAAGATGACAGAAGAAGTCATTGTCATAGCCAAGTGGGACTACACTGC
CCAGCAGGACCAGGAGCTCGACATCAGGAAGAACGAGCGGTTGTGGCTGCTAGATGACTC
CAAGACGTGGTGGCGGGTGAGGAATGCGGCCAACAGGACAGGCTACGTGCCTTCCAACTA
TGTGGAGCGTAAGAACAGCCTGAAGAAGGGCTCCCTGGTGAAGAACCTCAAGGACACACT
AG

GTGAGTGTCCATACCCACAGGAACA..........TGAACCATTTGCCATGTCTTCACAG

GCCTCGGAAAGACGCGCAGGAAGCCAAGCGCTCGGGATGCTTCCCCAACGCCAAGCACTG
ATGCGGAGTACCCAGCCAATGGCAGCGGTGCTGACCGTATCTATGACCTCAACATCCCAG
CCTTTGTCAAGTTCGCCTACGTAGCAGAACGAGAGGATGAGCTGTCCCTGGTGAAGGGCT
CCCGTGTCACAGTTATGGAGAA

ATGCAGTGATGGCTGGTGGCGTGGCAGCTTCAATGGGCAGATCGGCTGGTTCCCCTCCAA
CTACGTTCTGGAGGAAGCAGACGAAGCTGCGGCTGAGGCCCCCAGCTTCCTGAGCCTACG
TCGGGGCACTGCACTGAGCAATGGGCAGGGTGCACGGGTGCTGCACGTGGTGCAGACGCT
GTACCCCTTCAGCTCGGTCACTGAGGAGGAGCTTAGTTTCGAGAAGGGGGAGACCATGGA
GGTGATTGAGAAGCCGGAGAATGACCCTGAATGGTGGAAATGCAAAAATGCCCGAGGCCA
AGTGGGCCTGGTCCCCAAAAACTACGTGGTTGTTCTCAGTGATGGGCCTGCACTGCACCC
CGCGCACACCCCCCAGATCAGCTACACCGGGCCTTCAGCCAGCGGGCGCTTTGCTGGTCG
GGAGTGGTACTATGGCAACGTGACACGGCACCAGGCCGAGTGTGCGCTCAATGAGCGGGG
CGTCGAGGGCGACTTCCTCATTAGGGACAGCGAGTCCTCGGTAAGTGCCCAGCAGCTCCT
GTGCTGGAGCCACATTGCCAGAAGGAAGCTAAACGCGCAGTTCCCTGACCTGTGAGGTCA
GGGATTCCAGCCAGCCCTGGTCTGCGGATATTCAATAATGTTACAGGTCATTTGCCTCAT
TCTCCATTGTTAAATGTCTTACCAAGTCATGTAAGTTAGGCTTAATCCTGGGCATAACAA
AAAGCCTTATTTCTAGGGTTCTGATCTACCATGGTTCTAGGTGTCCACTGGAGTTCTCGG
AACCGTCCTCAGAAAGAACCACATTGTGGAAGGGCCGTGACTGGTAACCATTCCCATGGC
ATGTTCACTGACTATACTTGAAATAGCAAAATGGTATTTGAGGGCACGTACTAAACTAGC
CAAATACTATGTTGACATAGAGTCAGCTGCTCCCAATTTAGCTAAATCTAGGTTGGGTAG
ACTGTGAAGTCCCTGTTGCTACTCCTTTTCCTGGTTGTGG..........