-1kb

34847022(c.-14859G>A), 34847037(c.-14844T>C), 34847295(c.-14586A>G), 34847811(c.-14070G>C), 34847858(c.-14023C>T), 34847868(c.-14013G>T), 34847871(c.-14010T>G), 34847915(c.-13966G>A), 34847986(c.-13895C>T), 34848004(c.-13877T>C), 34848258(c.-13623A>C), 34848641(c.-13240T>C), 34848643(c.-13238C>T), 34848775(c.-13106A>G), 34848802(c.-13079T>C), 34848825(c.-13056C>T), 34848861(c.-13020A>G), 34848955(c.-12926C>A), 34849094(c.-12787G>A), 34849147(c.-12734C>T), 34849182(c.-12699C>T), 34849187(c.-12694C>T), 34849232(c.-12649G>A), 34849332(c.-12549C>T), 34849348(c.-12533A>G), 34849527(c.-12354G>T), 34849673(c.-12208G>A), 34849788(c.-12093C>T), 34850010(c.-11871G>A), 34850749(c.-11132T>C), 34850840(c.-11041T>C), 34851172(c.-10709G>T), 34851289(c.-10592T>C), 34851383(c.-10498G>A), 34851501(c.-10380A>G), 34851617(c.-10264T>A), 34851727(c.-10154C>T),

5'UTR

CDS

34863118(c.150C>T), 34863139(c.171C>T),

3'UTR

INTRON

34852292(c.-9+315A>C), 34852299(c.-9+322C>T), 34852316(c.-9+339C>T), 34852423(c.-9+446A>C), 34852466(c.-9+489G>A), 34852491(c.-9+514A>G), 34852492(c.-9+515A>G), 34852508(c.-9+531T>C), 34852512(c.-9+535T>A), 34852534(c.-9+557G>A), 34852536(c.-9+559G>A), 34852613(c.-9+636A>G), 34852748(c.-9+771A>T), 34852798(c.-9+821G>A), 34852881(c.-9+904A>G), 34852909(c.-9+932T>C), 34852913(c.-9+936G>A), 34852927(c.-9+950G>T), 34853133(c.-9+1156C>G), 34853144(c.-9+1167C>T), 34853365(c.-9+1388T>C), 34853377(c.-9+1400A>G), 34853403(c.-9+1426T>C), 34853469(c.-9+1492G>A), 34853474(c.-9+1497C>G), 34853501(c.-9+1524A>G), 34853503(c.-9+1526T>C), 34853505(c.-9+1528C>T), 34853671(c.-9+1694G>A), 34853677(c.-9+1700T>C), 34853720(c.-9+1743A>G), 34853741(c.-9+1764T>A), 34853764(c.-9+1787G>C), 34854075(c.-9+2098G>A), 34854109(c.-9+2132A>G), 34854110(c.-9+2133A>G), 34854198(c.-9+2221A>G), 34854346(c.-9+2369G>T), 34854775(c.-9+2798G>A), 34855064(c.-9+3087G>T), 34855108(c.-9+3131T>C), 34855334(c.-9+3357T>G), 34855372(c.-9+3395A>G), 34855433(c.-9+3456T>G), 34855597(c.-9+3620A>G), 34855678(c.-9+3701T>A), 34855735(c.-9+3758C>A), 34855975(c.-9+3998C>T), 34856001(c.-9+4024T>A), 34856014(c.-9+4037G>A), 34856075(c.-9+4098G>A), 34856220(c.-9+4243T>C), 34856244(c.-9+4267A>C), 34856383(c.-9+4406A>G), 34856524(c.-9+4547A>G), 34856536(c.-9+4559A>G), 34856571(c.-9+4594A>G), 34856809(c.-9+4832C>T), 34856841(c.-9+4864A>G), 34856911(c.-9+4934T>C), 34856927(c.-8-4946C>T), 34856935(c.-8-4938G>A), 34856942(c.-8-4931C>T), 34856955(c.-8-4918G>A), 34857204(c.-8-4669A>C), 34857302(c.-8-4571G>A), 34857315(c.-8-4558C>T), 34857361(c.-8-4512T>C), 34857402(c.-8-4471G>A), 34857620(c.-8-4253A>G), 34857710(c.-8-4163G>C), 34857722(c.-8-4151G>T), 34857726(c.-8-4147G>C), 34857732(c.-8-4141G>T), 34857773(c.-8-4100C>A), 34857783(c.-8-4090G>A), 34857796(c.-8-4077C>T), 34857821(c.-8-4052C>T), 34857822(c.-8-4051C>G), 34857826(c.-8-4047G>A), 34858035(c.-8-3838G>A), 34858061(c.-8-3812C>T), 34858081(c.-8-3792C>A), 34858084(c.-8-3789G>A), 34858106(c.-8-3767A>T), 34858197(c.-8-3676G>A), 34858410(c.-8-3463A>G), 34858454(c.-8-3419A>G), 34858476(c.-8-3397T>C), 34858478(c.-8-3395T>A), 34858513(c.-8-3360A>G), 34858546(c.-8-3327C>T), 34858786(c.-8-3087G>A), 34858982(c.-8-2891C>A), 34859048(c.-8-2825A>G), 34859124(c.-8-2749T>C), 34859179(c.-8-2694C>T), 34859244(c.-8-2629G>A), 34859284(c.-8-2589A>G), 34859297(c.-8-2576G>A), 34859298(c.-8-2575G>A), 34859302(c.-8-2571T>A), 34859305(c.-8-2568G>A), 34859322(c.-8-2551A>T), 34859342(c.-8-2531A>T), 34859362(c.-8-2511A>T), 34859365(c.-8-2508G>A), 34859386(c.-8-2487G>A), 34859426(c.-8-2447G>A), 34859437(c.-8-2436A>T), 34859527(c.-8-2346G>T), 34859541(c.-8-2332C>T), 34859564(c.-8-2309C>G), 34859590(c.-8-2283A>T), 34859595(c.-8-2278C>T), 34859596(c.-8-2277C>G), 34859892(c.-8-1981G>A), 34859915(c.-8-1958A>T), 34860135(c.-8-1738A>G), 34860170(c.-8-1703C>G), 34860238(c.-8-1635T>C), 34860479(c.-8-1394A>C), 34860501(c.-8-1372A>G), 34860812(c.-8-1061A>G), 34860973(c.-8-900T>C), 34860991(c.-8-882T>C), 34860994(c.-8-879A>G), 34861026(c.-8-847T>C), 34861078(c.-8-795G>A), 34861324(c.-8-549T>C), 34862496(c.38-510A>G), 34862889(c.38-117C>T), 34862998(c.38-8T>C), 34863225(c.190+67A>T), 34863226(c.190+68C>T), 34863266(c.190+108G>C), 34863285(c.190+127A>T), 34863296(c.190+138C>T), 34863324(c.191-147C>T), 34863330(c.191-141G>A), 34863363(c.191-108C>T), 34863381(c.191-90T>C), 34863395(c.191-76A>C), 34863413(c.191-58C>A), 34863451(c.191-20A>G),

+1kb

34864277(c.*802A>T), 34864382(c.*907G>A), 34864451(c.*976T>C), 34864544(c.*1069G>T), 34864656(c.*1181G>A), 34864669(c.*1194C>T), 34864879(c.*1404T>C), 34864914(c.*1439T>C), 34864970(c.*1495G>A), 34864972(c.*1497G>A), 34865052(c.*1577A>G), 34865094(c.*1619A>C), 34865113(c.*1638C>T), 34865243(c.*1768G>A), 34865316(c.*1841C>T), 34865359(c.*1884T>C), 34865547(c.*2072C>T), 34865610(c.*2135A>T), 34865815(c.*2340A>G), 34865820(c.*2345A>G), 34865848(c.*2373A>T), 34865864(c.*2389A>G), 34865878(c.*2403G>A), 34865994(c.*2519G>C), 34866014(c.*2539C>T), 34866185(c.*2710C>T), 34866203(c.*2728C>T), 34866397(c.*2922T>G), 34866829(c.*3354G>A), 34866831(c.*3356G>A), 34866860(c.*3385C>T), 34867188(c.*3713A>T), 34867362(c.*3887A>G), 34867403(c.*3928C>T), 34867439(c.*3964T>C), 34867576(c.*4101A>C), 34867683(c.*4208C>T), 34867712(c.*4237G>A), 34867750(c.*4275T>C), 34867793(c.*4318C>A), 34867910(c.*4435A>C), 34867927(c.*4452G>C), 34867940(c.*4465G>A), 34867964(c.*4489G>A), 34867999(c.*4524A>G), 34868007(c.*4532G>A), 34868044(c.*4569T>C), 34868105(c.*4630C>A), 34868253(c.*4778A>T), 34868366(c.*4891T>C), 34868416(c.*4941G>A),

-1kb

34849604 (c.-12277_-12276insT), 34849610 (c.-12271_-12270insT),

5'UTR

CDS

3'UTR

INTRON

34855307 (c.-9+3332_-9+3333insTTCTC), 34855567 (c.-9+3593_-9+3594insGAAC), 34856031 (c.-9+4059dupT), 34856128 (c.-9+4150_-9+4151dupGG), 34856987 (c.-8-4886_-8-4885insGTGGGT), 34857486 (c.-8-4385_-8-4380dupATAGGT), 34857656 (c.-8-4215_-8-4214insTGAGTG), 34862097 (c.37+192dupC),

+1kb

34864836 (c.*1361_*1362insG), 34865267 (c.*1792_*1793insT), 34865416 (c.*1941_*1942insC), 34868119 (c.*4644_*4645insAAAGC),

-1kb

34847677 (c.-14203_-14202delTT), 34849383 (c.-12497delT), 34849586 (c.-12294delC), 34850019 (c.-11861_-11857delCGCTC), 34851468 (c.-10412delT),

5'UTR

CDS

3'UTR

INTRON

34852701 (c.-9+740_-9+742delCTG), 34852894 (c.-9+918delG), 34854532 (c.-9+2560_-9+2563delGGAG), 34855075 (c.-9+3099_-9+3106delTCCCCCTC), 34855221 (c.-9+3249_-9+3250delGA), 34856734 (c.-9+4758delG), 34857336 (c.-8-4536_-8-4534delTTT), 34857353 (c.-8-4519_-8-4516delAGGG), 34860925 (c.-8-947_-8-942delGTGAGA), 34861287 (c.-8-581delG),

+1kb

34863797 (c.*323delG), 34865079 (c.*1605delT), 34866269 (c.*2795delG),

MAFVKSGWLLRQSTILKRWKKNWFDLWSDGHLIYYDDQTRQSIEDKVHMPVDCINIRTGH
ECRDI

MAFVKSGWLLRQSTILKRWKKNWFDLWSDGHLIYYDDQTRQSIEDKVHMPVDCINIRTGH
ECRDI

..........GTCCCTGCAGGGATTCTTCAGTGTTCCCCACCATAATCTTTTCTTCTCCT
GACCCAGTGACCAGGTCTGTCTTGTACCCCTGCCCTTTCCTCAGGGTCTTTTCCGGGTTC
ACCAAAAGCCCATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCTCTGTATAG
CCTTGGCTGTCCTGGAACTCACTTTGTAGACCAGGCTGGCCTCAAACTCAGAAATCCGCC
TGCCTCTGCCTCCCAAGTGCTGGGATTAAAGGCGTGCACCACCACCGCCCGGCCCAAATG
CCCACTTCTTGATGTATCCTCCCCAGTCCTACGCATCCCTTCCCATGTGCCCCCTGTCCT
AAATGGTATCTTCCCGTAGAGCTGCTTAGCCCTTACCCTCCCTCCCCTTCTCCACCTATG
TCTGGATAAGGTGGTGGGGGCTCTTCTGAGGATGGGAGCAGTCTGGCCTTTCTGATAGCT
CCTGTGACTTCACAAAGTACCGCTACTGCTTTACTGAGACCCCAGGGCTTTCTTCTTCCT
GGGGTTGCCCTGCTCCACTGGGCCTCCTGCTCCTCTGCACTTTCATGGTCTGTATTATAG
TGCCTTTAGTTTTCCGTGTTTGATTGTACAAGCCCTGACTCCTTTTGGTTACATTTTATT
GTTATGCAATAACAGTAGTTAGATTGAGACTTTGGGAGGTCAGGGGTTTTTATTTGGGGT
AAGCAGAATTTGTTGTGTCCAACTCTCAGGTGCAGAGTGGCTTACAGAGAGTCTTCATAA
AGGAGTGGAGAGATTGCCAGTGTTTTAGAAAGGTGGGAAGCTCACAGATTCTAGCGAGAC
TACGTGGCTCGTTCAGAACACAGTGACTAATTCCTCCAACCTCCCACCCCCCTCGTGCAT
TTCATTTGACTAGGATAGGTTGAAGCGACCCATGCAGGAAGTGACTTGTCCCACTTTGCA
GGAAGTGGTAGGGTGGCGACTGGGATTTATTGCCTACTTACTTAGGGCAG

GGAGTGTTAGCTGGAGTATTGACCAAACATGGCTGGAATCCACCAGCCTGTGCTGTGGGC
TTGCCTTTTGGAGTGAAGAAAGCCCTCCTTTCTTAGGCTGCTTTGACAGGTAGCTTGGGA
AGAGACCCTCTAGCTCAGCAG

GTACTTGCCTGGGTTTATCTGGTGT..........ACCCTGTCTGCTCTCTCTCCTGCAG

CTGGAGAGATGGCGTTCGTGAAGAGTGGATGGTTACTTCGGCAGA

GTGAGTAGAGACATCTGAGAACCCT..........CCAACTCTCTCTGTGTGCCCCCCAG

GCACCATTCTGAAACGCTGGAAGAAGAATTGGTTCGACCTGTGGTCAGACGGTCACCTGA
TCTACTACGATGATCAGACTCGGCAGAGCATAGAGGATAAGGTCCACATGCCTGTGGACT
GCATCAATATCCGTACGGGGCATGAGTGCCGGG

GTAAGCTGTGCCCAGGACCACCACC..........CCTCCGTTCTGCCTCTCTCTCCTAG

ACATC

CAGCCTCCAGATGGGAAGCCCAGAGACTGTCTGCTGCAGATCGTTTGCCGAGACGGGAAG
ACCATCAGTCTCTGTGCAGAGAGCACAGACGATTGCCTGTGAGTGCTCATTTGATTATGT
GTTTAATTCACAGAGTGTTTTCTACTCTAATTTCCCTTTGTTAGGAAGGGAAGAGAGTGG
GAGGACAGCCTCCCTCCAGCCTGGGGCTCTGGGAGAAGCGCAACAGGGGCTTTTCTTGGA
TCTAGTTTCTTTCTTTCTTGTGTGTGTGTGTACTTGTGTGTGTCCACAATGTATATACAT
GCCGTGGCAAGGGTGGAGGTCAGGAGACAATGTTTGCGTTGGTCCTCGCCTTGCATCTTG
CTTTTGAGACAGGGTCTTATTGATTTTTTTCATTATGTTTCCCCATGACTTCCAGAGAGT
CTCCTGTCTCTAGTCCTCATCTCTCCATAGGAGTGCTGCATCATACACTCTAGTGCTACA
CAGCTGAACTTTTTAGAAGTGGTCAGAAGTGCAATCAGCTCCTTTGCAGGCCTCCCTGGG
TCTGTGGGACCCTTACTGGCCTCTCCTCATCTTGCCCATACCCAGCATGGTGGACTGAGG
ATCTTAAAGTTTGACCCCATTTTCATTTGATTTCATGTGCAAAGACCCTGTTTCTTGGTG
AGCCACACTTATCAGTGCAGAGGACCCCAAGTTCAGTGTGTCTCTTGAAGGCACAAAGTT
CAATCCATGGGAACAGAGACCTCTGAGGAAAGATGAGGAAACAAATCTGGATTGCCTTCT
GCAGCCATCAAGTGAAGAGAATGGGAGGATTGTTTATGCAGCTATCTATCTACGCTCATG
GGAGTCCTCCTGTATATACCTCCTAAGTGCTGCGATTAGGGCCTAGCCGTCCCTCTCTAC
ACAGAAACCTTTCCGGGACTGCCGAGGCTTATCTGAACTTAAGAATCGTTGGAATGTTGG
ATTACTTCAGAGTACCCTGTTTTTTCATTTTTTCCAGGGC..........