+1kb

9985772(c.-81G>C), 9985838(c.-147G>C), 9985882(c.-191T>C), 9986024(c.-333A>C), 9986027(c.-336T>G), 9986047(c.-356A>G), 9986053(c.-362A>G), 9986184(c.-493A>G), 9986211(c.-520T>C), 9986230(c.-539A>G), 9986288(c.-597A>G), 9986308(c.-617G>T), 9986672(c.-981T>C), 9986719(c.-1028C>T), 9986732(c.-1041A>C), 9986931(c.-1240A>G), 9986954(c.-1263G>A), 9987021(c.-1330T>C), 9987023(c.-1332G>A), 9987041(c.-1350T>C), 9987278(c.-1587G>A), 9987351(c.-1660T>C), 9987375(c.-1684G>C), 9987429(c.-1738A>G), 9987463(c.-1772G>A), 9987861(c.-2170T>C), 9988066(c.-2375C>T), 9988109(c.-2418C>T), 9988113(c.-2422A>G), 9988123(c.-2432A>C), 9988259(c.-2568C>T), 9988285(c.-2594T>G), 9988319(c.-2628C>T), 9988323(c.-2632G>A), 9988355(c.-2664A>G), 9988372(c.-2681A>G), 9988442(c.-2751A>G), 9988461(c.-2770A>G), 9990057(c.-4366C>T), 9990590(c.-4899A>G),

5'UTR

CDS

9978820(c.228T>C),

3'UTR

9968651(c.*267A>G),

INTRON

9969065(c.233-134C>A), 9969184(c.233-253C>T), 9969551(c.233-620T>C), 9969584(c.233-653T>A), 9969620(c.233-689T>C), 9969851(c.233-920T>G), 9970328(c.233-1397C>T), 9970377(c.233-1446T>C), 9970568(c.233-1637A>G), 9971087(c.233-2156C>A), 9971135(c.233-2204C>T), 9971222(c.233-2291A>C), 9971379(c.233-2448C>T), 9971476(c.233-2545A>G), 9971478(c.233-2547G>A), 9971869(c.233-2938T>A), 9971877(c.233-2946C>T), 9971919(c.233-2988T>C), 9971996(c.233-3065A>G), 9972031(c.233-3100T>C), 9972039(c.233-3108G>A), 9972231(c.233-3300C>T), 9972244(c.233-3313T>C), 9972262(c.233-3331T>G), 9972349(c.233-3418C>A), 9972578(c.233-3647T>G), 9972634(c.233-3703G>A), 9972964(c.233-4033G>A), 9973195(c.233-4264C>T), 9973383(c.233-4452T>C), 9973384(c.233-4453C>T), 9973387(c.233-4456G>A), 9973648(c.233-4717G>A), 9973649(c.233-4718G>A), 9973652(c.233-4721A>G), 9973880(c.232+4936G>A), 9973908(c.232+4908C>T), 9974086(c.232+4730A>C), 9974171(c.232+4645T>G), 9974205(c.232+4611A>G), 9974550(c.232+4266G>A), 9974815(c.232+4001G>T), 9974919(c.232+3897G>T), 9975247(c.232+3569T>C), 9975379(c.232+3437A>G), 9975390(c.232+3426A>T), 9975504(c.232+3312T>A), 9975556(c.232+3260A>T), 9975599(c.232+3217C>T), 9975652(c.232+3164A>G), 9975655(c.232+3161G>A), 9975729(c.232+3087A>C), 9975794(c.232+3022G>A), 9975843(c.232+2973T>C), 9975848(c.232+2968T>A), 9976021(c.232+2795A>G), 9976070(c.232+2746C>T), 9976145(c.232+2671A>T), 9976212(c.232+2604A>T), 9976227(c.232+2589G>A), 9976481(c.232+2335G>C), 9976483(c.232+2333C>T), 9976914(c.232+1902C>T), 9977183(c.232+1633G>A), 9977200(c.232+1616A>G), 9977218(c.232+1598G>T), 9977369(c.232+1447A>T), 9977618(c.232+1198T>C), 9977632(c.232+1184G>T), 9977740(c.232+1076G>T), 9977924(c.232+892A>G), 9978206(c.232+610C>T), 9978244(c.232+572G>A), 9978272(c.232+544G>A), 9978276(c.232+540T>C), 9978282(c.232+534C>T), 9978283(c.232+533C>A), 9978398(c.232+418T>A), 9978567(c.232+249G>A), 9978574(c.232+242C>A), 9978637(c.232+179A>G), 9978653(c.232+163A>G), 9978707(c.232+109C>A), 9978761(c.232+55C>T), 9978762(c.232+54G>A), 9978776(c.232+40C>T), 9978777(c.232+39A>G), 9979113(c.101-166A>G), 9979157(c.101-210T>C), 9979237(c.101-290G>T), 9979284(c.101-337C>T), 9979300(c.101-353A>G), 9979371(c.101-424G>A), 9979586(c.101-639C>T), 9979796(c.101-849T>G), 9979833(c.101-886T>A), 9979907(c.101-960C>T), 9980105(c.101-1158G>C), 9980115(c.101-1168G>A), 9980733(c.101-1786A>G), 9980949(c.101-2002A>G), 9980951(c.101-2004A>C), 9980954(c.101-2007T>A), 9980965(c.101-2018T>A), 9981028(c.101-2081G>A), 9981083(c.101-2136A>G), 9981517(c.101-2570C>T), 9981526(c.101-2579A>G), 9981531(c.101-2584A>G), 9981571(c.101-2624G>T), 9981782(c.101-2835A>T), 9981792(c.101-2845T>C), 9981823(c.101-2876C>T), 9981829(c.101-2882C>T), 9981864(c.101-2917A>G), 9981993(c.101-3046C>G), 9982017(c.101-3070G>A), 9982300(c.100+3292A>G), 9982444(c.100+3148C>T), 9982930(c.100+2662G>T), 9982955(c.100+2637C>T), 9982959(c.100+2633A>T), 9983055(c.100+2537G>T), 9983060(c.100+2532T>G), 9983110(c.100+2482A>G), 9983199(c.100+2393A>G), 9983206(c.100+2386G>A), 9983315(c.100+2277T>A), 9983323(c.100+2269T>G), 9985315(c.100+277T>C), 9985383(c.100+209T>C),

-1kb

9963636(c.*5282C>G), 9963773(c.*5145G>T), 9963830(c.*5088A>G), 9963847(c.*5071A>G), 9963893(c.*5025T>C), 9963924(c.*4994C>T), 9963951(c.*4967A>G), 9963983(c.*4935A>G), 9963992(c.*4926T>C), 9964004(c.*4914G>A), 9964082(c.*4836C>G), 9964150(c.*4768T>A), 9964208(c.*4710T>A), 9964233(c.*4685C>T), 9964237(c.*4681G>A), 9964252(c.*4666C>T), 9964327(c.*4591G>A), 9964371(c.*4547T>C), 9964703(c.*4215G>A), 9964817(c.*4101G>C), 9964873(c.*4045T>C), 9965012(c.*3906T>C), 9965108(c.*3810T>G), 9965162(c.*3756C>G), 9965295(c.*3623T>C), 9965300(c.*3618A>G), 9965362(c.*3556A>G), 9965413(c.*3505A>G), 9965451(c.*3467C>A), 9965840(c.*3078T>C), 9965885(c.*3033C>T), 9965988(c.*2930T>C), 9966198(c.*2720C>T), 9966202(c.*2716G>A), 9966343(c.*2575G>A), 9966434(c.*2484G>A), 9966527(c.*2391C>A), 9966549(c.*2369A>T), 9966597(c.*2321A>T), 9966700(c.*2218C>T), 9967032(c.*1886T>G), 9967085(c.*1833C>T), 9967189(c.*1729C>T), 9967654(c.*1264G>C), 9967772(c.*1146G>T), 9967942(c.*976A>G), 9968082(c.*836G>A), 9968198(c.*720C>G), 9968233(c.*685T>C), 9968267(c.*651C>T), 9968295(c.*623T>C), 9968343(c.*575G>T), 9968375(c.*543C>T),

+1kb

9986093 (c.-404_-403dupCT), 9986416 (c.-726_-725insATT), 9987972 (c.-2282_-2281insAATAGC), 9987987 (c.-2297_-2296insAAT), 9990542 (c.-4852_-4851insTC),

5'UTR

CDS

3'UTR

INTRON

9970397 (c.233-1467dupT), 9973649 (c.233-4719_233-4718insAA), 9974821 (c.232+3992_232+3994dupTTG), 9975361 (c.232+3453_232+3454dupTG), 9975630 (c.232+3183_232+3185dupAAA), 9978020 (c.232+795_232+796insAG), 9978125 (c.232+689_232+690dupTT), 9978452 (c.232+363_232+364insCAGTCTC), 9978976 (c.101-31_101-30dupAC), 9979911 (c.101-968_101-965dupAGAA), 9981398 (c.101-2452dupT), 9982024 (c.101-3078_101-3077insA), 9982100 (c.101-3154dupA), 9982107 (c.101-3161_101-3160insA), 9982259 (c.101-3313_101-3312insTATGTGT), 9982520 (c.100+3071_100+3072insACTACATCAA), 9985556 (c.100+35_100+36insG),

-1kb

9965051 (c.*3866_*3867insGG), 9966085 (c.*2832dupA),

+1kb

9987185 (c.-1498_-1495delCTGT), 9987208 (c.-1521_-1518delTATT), 9987231 (c.-1544_-1541delATTT), 9988406 (c.-2716delA), 9989998 (c.-4308delG), 9990226 (c.-4539_-4536delGACT),

5'UTR

CDS

3'UTR

INTRON

9968975 (c.233-45delC), 9969529 (c.233-599delG), 9970270 (c.233-1343_233-1340delTGTC), 9974355 (c.232+4459_232+4460delAT), 9974804 (c.232+4007_232+4011delGTTGT), 9976446 (c.232+2368_232+2369delAG), 9977468 (c.232+1344_232+1347delACCC), 9980460 (c.101-1515_101-1514delTG), 9985046 (c.100+544_100+545delTT), 9985114 (c.100+477delA), 9985167 (c.100+420_100+424delAAGGC), 9985173 (c.100+415_100+418delGAAG),

-1kb

9964972 (c.*3945delG), 9966672 (c.*2244_*2245delAA), 9967667 (c.*1247_*1250delCGGG), 9967735 (c.*1180_*1182delGTG),

KKLMKLWKMDLNGNPVCLKPKYRDKLILTSKSLEFLDGKEIKDMERQFLMNWKASKDAKK
ISKKRRSRSEDASNSYIRICP*

KKLMKLWKMDLNGNPVCLKPKYRDKLILTSKSLEFLDGKEIKDMERQFLMNWKASKDAKK
ISKKRRSRSEDASNSYIRICP*

..........CAGGTAGATCTCTGTGAGTTCGAGGCCAGCCTGGTCTACACAGTAAATGC
CAGACCAGTCAGGTCTACACAATGAGACCTTGTCAAAACTAAAACCAAACCAAAAAATAA
ATACAAACAAAATAAACAAACAGAAAAACAGCAACAACAACAAAAGAAGTAAAAGGAAAT
TATAACCCCAGTAAGATTATAATTTCAAAAGAAGTCCCTAGGCCCTAAAGAGATGAGCCA
GGCATAACTGCTCAATGTGGTCTCCAGGTGATGTACAGGCGAGTACTTTTTTTTTTCTGT
TTTGCAGTCTGACAGGATTTTCCCACATTCTTCATTTTAAAAAGGCAACAATGATGTTGC
CTGCAGTGCTGGCAGACTGTGTTGTTTAATTTGATGAACCAATGGGTTTTATTGGGACTA
CAGGAAGATAGGTGAAGGGTTACTTTCAGGAGCAGAAATGATTCAGACAGCTGCATCACC
AAAACCCTTCTCGAGCACGGGTGATGCTCCTGAAGCTGGGAGCCTGGAGCACACTGCCCA
GGCTACAGGCAGCTCAGCAGGCTGGGGAGTGTCCTTTCCAGGTGCCTCGGATGCTCTGAG
CCTCTCTCTGGCAGATGGGGTAGTCCCTGCTCCTTCCAGACAGCTTCTCGGCAACGGCTG
ATGAAGTGTGCTTACGCGCTACTCTTCAATTGCCTTCACCTGTAAACTTTCATGGATTCC
CCTGAGAATAGGGTATCTTCTAAAAGTAGGAAGTGTTTTCCTAACTGCAGATTGAGTTGA
TTTAGGGATGACATGATCAAGAGCAGCATGGTGATCCCTACTTTGCCTCCTCTAGCTTCC
TCATGACGAGTATACACAAAGCTGCTGGTCATATGAGTTCTACCTGGGGAGCTAGGGTGC
TGTAGAAATCATTAACCACCTTGAAAAGCACTTGCACAAGAGTATGAATAATCATAAAAT
CCCCATGCCTTCTCTTTTCTTTCCTGACTACAGGACTTGGAGCTTTTACT

GAAAAAACTGATGAAGCTGTGGAAAATGGATCTAAATGGAAATCCTGTTTGTCTTAAACC
AAAATACAGGGACAAACTGATACTGACGTCCAAGTCACTGG

GTGAGTGTTTTACATTAACCCAATT..........TTTTTAACATACATGTCTTCTCCAG

AATTTCTTGATGGAAAAGAAATAAAAGATATGGAAAGACAATTCCTAATGAATTGGAAAG
CATCCAAAGATGCCAAGAAAATCAGCAAGAAAAGGAGGAGCAGAAGTGAGGATGCAAGCA
ACTCCTACATAA

GTAAGTGCTCACCACTCGCCACCGT..........GGTGTGTTTTTGTTTGTAAATACAG

GAATCTGTCCTTGAAGGAATCTGAAAGCTCGCTAACAAAAAACGATATCCATGAACCTCA
CCTTCTCCAAAATCCAAAAGTAAAGGAAAATTTGTCTGAGAAAAAGGAGTAAATTCAGCC
TCGAGTGATTTGATTTCTTCATAGAACTAGGCAACAGCATGTTTTGAGGGTTTGTGGACT
TCACTTATCTCGGTGTGTAAGTTGTTTGATTTGTTTCTTTATAGAATCTGAGACTTTGCT
TTATGTGCGTGAATTCTGGGATCTATTTACTTTATTAGCTGTTAAATAAAATTTGCCAGG
AAATAAAA

TGTGGTTTCGTATTATGTGGTTTCTTATTCAACACAAGTCCTTTTGAATCAAGGAAATCT
GAGTGTGCGTTCTAAAGCCTAAAGCCCATTACAGTCTTAGAATCACCGTGATTCACTGAC
AAGTCCACGTTTCGGTCCATCGTGGTATAAAAAGTCCTGCGTTGCTATCTTACTGTTTGG
TATTCCCGACGTGGAAAGTTAGAAATCTGCAGCGAAATGTTCGCGAATCTATAAACTAGC
CTTGCCCTTAGTGACATTTCATATCTGATACTCAGAACCTTCAAAGAGGAAACCGCGCTG
ATTCCTATCCCGGTTCAGAGAATCTGGCCGGGCTGCGGCGAGAACCGCGTCCGCCATGGG
CTGCAGCACTGAGTCCCGCCGGCGCCGGGGCCAGCCTGAGCCTGTGGGCGAGCGGGTGCC
GAGGCGGGAAGGCGGCCGTGGCGGTGGCGGGTCTCTAGGTCACGGTGTACTGAGGAAAGG
CTTCTACTGCAAGAATCTTCACCTTGTAGAATTAAAGGCGGACGGGGACGCACACGCGAC
GACTCTGCTCCTGAAGTCCCGCTGTACTAAACCCCCGGGTCCCGTCCCAGCTGGACCACC
GTAAACTACTCTCAACCTTCCGGCCAGAGGGGGCGGGGCCAGGCGTCCGCCCCACCCCCG
AGCGGTTTGATTGATGAGTCTGTCCGCCGAGGGGGCGGCTCCGGGACGCCGCTGCCCCTA
ACCCAAGGGCTCGGGTGGGAGACCCTCTCGGCCCGACGTGGCTTTGCTGGCTTCGGACGC
CCACATAAAAGGCGGCGCAGAGCCTGGACAAGGATGGAGTGACCCACCCGCTCGACGCCC
TTGGCCGCCTATCCCTGCTCAGCCGAACCCCGCACGGCCGCTGCGGTGGGGGGAGGAAAG
GTGAGGTGACGCCAAGTCCGAGGTGAGGCCGAGTCCTGCAGCCCCGTTTCCCCGGGCGGG
CGGGCGGGCCGGCGGGCGGGCGGGGTGTGTCAGCGGGGAC..........