-1kb

54499115(c.-4761A>G), 54499207(c.-4669A>G), 54499312(c.-4564C>T), 54499313(c.-4563A>G), 54499407(c.-4469G>A), 54499742(c.-4134G>A), 54499839(c.-4037C>T), 54499840(c.-4036A>G), 54499929(c.-3947T>C), 54500082(c.-3794T>C), 54500470(c.-3406C>T), 54500602(c.-3274C>T), 54501263(c.-2613C>T), 54501400(c.-2476T>C), 54501425(c.-2451T>G), 54501711(c.-2165G>A), 54501768(c.-2108A>G), 54502223(c.-1653T>A), 54502256(c.-1620G>T), 54502257(c.-1619T>G), 54502527(c.-1349A>G), 54502534(c.-1342G>C), 54502703(c.-1173T>C), 54502735(c.-1141G>A), 54503060(c.-816T>C), 54503110(c.-766C>T), 54503778(c.-98T>G),

5'UTR

CDS

3'UTR

INTRON

54504390(c.129+386A>G), 54504769(c.129+765G>A), 54504802(c.129+798G>A), 54504808(c.129+804A>G), 54504812(c.129+808C>G), 54504813(c.129+809A>T), 54504877(c.129+873C>T), 54505028(c.129+1024G>A), 54505165(c.129+1161G>A), 54505174(c.129+1170C>G), 54505277(c.129+1273T>C), 54505280(c.129+1276G>C), 54505431(c.129+1427T>C), 54505648(c.129+1644G>A), 54506161(c.129+2157G>A), 54506292(c.129+2288A>G), 54506316(c.129+2312G>A), 54506394(c.129+2390T>C), 54506407(c.129+2403G>T), 54506425(c.129+2421C>G), 54506470(c.129+2466G>A), 54507178(c.129+3174A>G), 54507369(c.129+3365A>G), 54507370(c.129+3366T>C), 54507373(c.129+3369A>T), 54507383(c.129+3379T>G), 54507472(c.129+3468A>G), 54507583(c.129+3579A>G), 54507763(c.129+3759A>G), 54507886(c.129+3882A>G), 54507961(c.129+3957A>G), 54508690(c.129+4686T>C), 54508852(c.129+4848G>A), 54508857(c.129+4853T>C), 54508999(c.129+4995C>A), 54509087(c.129+5083T>C), 54509185(c.129+5181C>G), 54509385(c.129+5381G>T), 54509406(c.129+5402G>T), 54509428(c.129+5424A>C), 54509465(c.129+5461C>T), 54509577(c.129+5573A>T), 54509603(c.129+5599C>T), 54509631(c.129+5627A>G), 54509834(c.129+5830T>A), 54509958(c.129+5954A>G), 54510000(c.129+5996G>T), 54510014(c.129+6010G>A), 54510072(c.129+6068A>G), 54510102(c.129+6098G>T), 54510116(c.129+6112A>G), 54510147(c.129+6143T>C), 54510160(c.129+6156G>A), 54510162(c.129+6158G>A), 54510206(c.129+6202T>C), 54510273(c.129+6269C>A), 54510426(c.129+6422C>T), 54510766(c.129+6762G>T), 54510883(c.129+6879A>T), 54510939(c.129+6935C>T), 54511338(c.129+7334A>G), 54511355(c.129+7351A>G), 54511406(c.129+7402G>A), 54511468(c.129+7464T>C), 54511496(c.129+7492C>T), 54511497(c.129+7493C>A), 54511596(c.129+7592A>G), 54511798(c.129+7794C>G), 54511807(c.129+7803G>A), 54511946(c.129+7942C>T), 54512043(c.129+8039C>T), 54512054(c.129+8050C>T), 54512757(c.129+8753T>C), 54512791(c.129+8787G>A), 54513002(c.129+8998C>A), 54513124(c.129+9120G>A), 54513692(c.129+9688A>T), 54513823(c.129+9819C>T), 54514266(c.129+10262A>G), 54515134(c.129+11130C>T), 54515142(c.129+11138C>T), 54515240(c.129+11236G>A), 54515500(c.129+11496G>A), 54516002(c.129+11998A>G), 54516712(c.130-12442G>A), 54517168(c.130-11986T>A), 54518378(c.130-10776T>C), 54518492(c.130-10662G>T), 54518745(c.130-10409T>A), 54518842(c.130-10312A>G), 54519073(c.130-10081T>C), 54519182(c.130-9972T>G), 54519232(c.130-9922G>A), 54519336(c.130-9818A>G), 54519362(c.130-9792A>G), 54519587(c.130-9567G>A), 54519588(c.130-9566C>G), 54519874(c.130-9280G>A), 54520040(c.130-9114C>A), 54520145(c.130-9009C>T), 54520270(c.130-8884T>G), 54520976(c.130-8178T>C), 54521203(c.130-7951T>C), 54521393(c.130-7761G>T), 54521492(c.130-7662T>C), 54522136(c.130-7018A>G), 54522190(c.130-6964G>T), 54522526(c.130-6628A>G), 54522803(c.130-6351A>C), 54522877(c.130-6277G>A), 54523305(c.130-5849C>T), 54523454(c.130-5700C>T), 54523519(c.130-5635T>C), 54523520(c.130-5634G>T), 54523521(c.130-5633C>T), 54523597(c.130-5557C>G), 54523709(c.130-5445G>A), 54523805(c.130-5349T>C), 54524330(c.130-4824A>G), 54524985(c.130-4169C>T), 54525014(c.130-4140C>T), 54525017(c.130-4137G>A), 54525021(c.130-4133G>A), 54525132(c.130-4022T>C), 54525195(c.130-3959C>T), 54525203(c.130-3951C>T), 54525209(c.130-3945G>A), 54525214(c.130-3940G>A), 54525227(c.130-3927G>A), 54525228(c.130-3926G>A), 54525231(c.130-3923G>A), 54525235(c.130-3919A>G), 54525249(c.130-3905G>A), 54525571(c.130-3583G>A), 54525756(c.130-3398C>A), 54525786(c.130-3368C>T), 54526281(c.130-2873C>T), 54526500(c.130-2654G>A), 54526928(c.130-2226G>C), 54526939(c.130-2215T>G), 54527221(c.130-1933C>T), 54527538(c.130-1616A>G), 54527950(c.130-1204G>C), 54527976(c.130-1178A>T), 54530054(c.199+831A>G), 54530417(c.199+1194A>G), 54530689(c.199+1466A>G), 54531594(c.199+2371G>C), 54531695(c.199+2472T>C), 54532137(c.199+2914A>G), 54532151(c.199+2928T>C), 54532248(c.199+3025G>A), 54532254(c.199+3031T>C), 54533337(c.200-3745C>T), 54533338(c.200-3744A>C), 54533516(c.200-3566A>G), 54533631(c.200-3451G>A), 54533681(c.200-3401C>T), 54533781(c.200-3301A>C), 54533964(c.200-3118G>A), 54534294(c.200-2788G>C), 54534333(c.200-2749G>A), 54534403(c.200-2679T>G), 54534452(c.200-2630T>G), 54534583(c.200-2499C>T), 54534765(c.200-2317C>A), 54535565(c.200-1517G>C), 54535585(c.200-1497C>T), 54536005(c.200-1077G>A), 54536051(c.200-1031T>C), 54536564(c.200-518T>C), 54536580(c.200-502C>T), 54536633(c.200-449C>T), 54536733(c.200-349C>T), 54536816(c.200-266C>A), 54536919(c.200-163C>A), 54537008(c.200-74G>T), 54537372(c.*93+136T>C), 54537487(c.*93+251C>G), 54537623(c.*93+387T>A), 54537655(c.*93+419G>A), 54537719(c.*93+483G>A), 54537792(c.*93+556G>T), 54537926(c.*93+690G>A), 54537985(c.*93+749C>A), 54538035(c.*93+799C>T), 54538068(c.*93+832C>T), 54538140(c.*93+904A>G), 54538149(c.*93+913T>C), 54538161(c.*93+925C>T), 54538199(c.*93+963T>G), 54538287(c.*93+1051A>G), 54538731(c.*94-973G>T), 54539180(c.*94-524A>G), 54539205(c.*94-499T>C), 54539224(c.*94-480T>G), 54539364(c.*94-340G>A), 54539418(c.*94-286C>T), 54539461(c.*94-243C>T), 54539525(c.*94-179C>T),

+1kb

54539896(c.*2753A>G), 54539953(c.*2810A>C), 54539984(c.*2841A>G), 54540248(c.*3105G>A), 54541094(c.*3951T>C), 54541143(c.*4000G>C), 54541953(c.*4810A>G), 54542477(c.*5334T>G), 54542523(c.*5380A>G), 54542589(c.*5446A>T), 54542603(c.*5460T>C), 54542665(c.*5522T>C), 54542732(c.*5589C>T), 54542772(c.*5629G>A), 54542960(c.*5817C>T), 54542961(c.*5818A>G), 54542990(c.*5847A>G), 54543138(c.*5995T>G), 54543307(c.*6164G>A), 54543465(c.*6322C>G), 54543590(c.*6447C>T), 54543668(c.*6525T>G), 54544001(c.*6858A>G), 54544117(c.*6974T>C),

-1kb

54499428 (c.-4448_-4447insGG), 54499577 (c.-4299_-4298insTTTT), 54501871 (c.-2005_-2004insTTG), 54502270 (c.-1606_-1605insGGTG),

5'UTR

54503834 (c.-32_-26dupCGCTCGC),

CDS

3'UTR

INTRON

54505113 (c.129+1109_129+1110insA), 54506454 (c.129+2451_129+2452insCT), 54506736 (c.129+2732_129+2733insGATCCA), 54507499 (c.129+3495_129+3496insTTC), 54508192 (c.129+4195dupT), 54508811 (c.129+4807_129+4808insAA), 54509586 (c.129+5582_129+5583dupTT), 54511005 (c.129+7003_129+7004insGGCTCA), 54518631 (c.130-10518_130-10517insAAGAGA), 54520617 (c.130-8522_130-8519dupCAAA), 54521117 (c.130-8035dupT), 54531978 (c.199+2756_199+2757insTGGA), 54534153 (c.200-2929_200-2928insCC), 54535168 (c.200-1906dupG), 54537330 (c.*93+93_*93+94dupTG),

+1kb

54541762 (c.*4619dupA),

-1kb

54500748 (c.-3127delA), 54501175 (c.-2700_-2696delTTTTG), 54502064 (c.-1811_-1810delAA),

5'UTR

CDS

3'UTR

INTRON

54504314 (c.129+316delG), 54504760 (c.129+758delC), 54507237 (c.129+3234delA), 54507268 (c.129+3268delG), 54507271 (c.129+3268delG), 54507744 (c.129+3751_129+3753delAAA), 54509514 (c.129+5511delA), 54509620 (c.129+5617_129+5620delTATA), 54509789 (c.129+5786delT), 54509845 (c.129+5842_129+5844delAGG), 54510103 (c.129+6100delG), 54510166 (c.129+6163delA), 54510387 (c.129+6385delA), 54511999 (c.129+8008_129+8010delAAA), 54513959 (c.129+9963_129+9964delTT), 54514243 (c.129+10251delA), 54519662 (c.130-9489_130-9482delGTAATGGT), 54521616 (c.130-7537delT), 54521653 (c.130-7496_130-7495delAC), 54521657 (c.130-7496_130-7495delAC), 54523671 (c.130-5482delG), 54523683 (c.130-5470_130-5469delGG), 54523721 (c.130-5424delA), 54530032 (c.199+819delA), 54530621 (c.199+1405delG), 54530627 (c.199+1405delG), 54530663 (c.199+1441_199+1446delCTTCTT), 54531557 (c.199+2343_199+2348delGCTTGG), 54533052 (c.199+3830_199+3837delACATACAT), 54534097 (c.200-2984_200-2974delACTCTTCCCCC), 54534953 (c.200-2120_200-2119delAA), 54536238 (c.200-843_200-839delCACAG), 54536275 (c.200-806_200-801delCACAGT), 54537353 (c.*93+126_*93+129delAGAG), 54537361 (c.*93+126_*93+129delAGAG), 54537810 (c.*93+584_*93+589delTATATA),

+1kb

54539994 (c.*2852_*2854delAAG), 54540002 (c.*2860_*2861delGA), 54540092 (c.*2950delG), 54540095 (c.*2953delG), 54542556 (c.*5414_*5421delACACACAC), 54544406 (c.*7264_*7266delCTC),

MEDFIVISDDSGSESSAGTRSGRARRLRRALSRTPGALPRRTVAASSQCQDSGVGLETAH
LCHGGRGTNSAWTSSLSTLRSANPGR*

MEDFIVISDDSGSESSAGTRSGRARRLRRALSRTPGALPRRTVAASSQCQDSGVGLETAH
LCHGGRGTNSAWTSSLSTLRSANPGR*

..........TTTTTTGAAGTTACTTGAGCATAAGCAGCAGGGTTTTGTCAGTATTGCAC
ATTTTTAAAATAGCCATGGGCCCTATTTTGATTTAATGTCCCTACCCTTCAACAAAACAA
CCAAAGAATTCACTACTTACCCATATTTCCCTCTGATGGGGATACAATTTTATCCCTATA
TTTTCTGCTTGCTCACAGCATTGGAGTATACGGGCACTCTGGGACCTCATAGCTCTCTGT
ATGTGCCTTTTCAGTGGTTTCCGTCAACTAGAAACTCAACAAACTCTTACATCTGACAGT
TTAAATTCCTGTGACACGTATTGTTGGTGAAACCGCAAATCGGCACAACTTAAGACAATT
TGGTACCATTTGTCAAAATAACAATAAAAACATAGATTTGATCCAATAAACCTGCTTCTG
GGAATTTATCCCACGGATTTACCTGCACACACAAGAGTGGGTATCTCTCCCTTATCTCAG
CCAGAAGCCCCAGTCAATAAAACCCTAGGTTCAGGTTACCCTTTTCAGCCCCTCAGGGCT
TCTTTAACCCGAAGGCGTCACTGCTCCTTCTGCCAGGTGCAGGCTCCACTACCGGGTCAA
TTAAATGCGCTATCAGAGGCTCCATCAGCTCACTCCAGTCCTCACACCTGCAGCCAGGGG
CTCGTCACCAGCACTGCCCACTGTGATCGGTTGAGAGCGGCGGCGGACAACCTCTCAACC
TCAGCGTTTTTCAAGCCCGCCGACCATGCGGCCCAGCCCCTCGGTTCTATCCCTCCCTTT
CCCTCTCTTCCCTCTCTCTCCTTCTCTGAGGGAAAGGGAGCCTGGCTCCTCCAGGGTTCT
GTGACACTGCCCTGACCCGGGCGCGCGGCTGCCCCCGAGATAGGCGGGGCTCCGAGCGGG
ACCGGTCCTCTGGAGGCGGGGCGCGGTGGGGGCGGGGCAATGGAGGGGGCGGGGCCGGCG
GGGTACTAACCCCGGTGTCGGCGACGCCTTCGCTGCAGTCGCTTCAGCAG

CTGGAACCGGAGTCGGAGTCGCCGGGGCCGCTCGCCGCTCGCGCGTGGCTCCGCCGGGCC
CGTAGCCATGGAGGACTTTATCGTGATCTCCGACGACAGTGGCTCCGAGAGCTCGGCCGG
GACCCGCTCGGGCAGGGCGCGGAGGCTGCGCCGGGCCCTGTCTCGGACCCCCGGCGCGCT
GCCCCGCCGAACCGTG

GTGAGTGAATCCACTGCCGCTCGCC..........CTAATTGATGTCACTTGACTTTCAG

GCTGCATCCAGCCAATGCCAAGACAGTGGAGTGGGACTGGAAACTGCTCACCTATGTCAT
GGAGGAAGAG

GTAACATAAATTATAAGGACATATC..........TGACTTCTTATTCTTTTTTCCACAG

GGACAAACTCTGCCTGGACGAGTTCTCTTTCTACGCTACGTAGTGCAAACCCTGGAAGAT
GACTTCCAGCAGATCTTGAGGAGACAGCGGCAGCACCTACAGCAATCCATTGCAAACACT
GTTCTGTCATGTGACAAACAGCCTCACAATGTCAG

GTAATGAGATACTAGAGCTCTGGTA..........CTTTTTTATCTCTTCTTTATTCCAG

AGATGTTATTAAGTGGCTGGTCAAAGCAGTGACTGAAAATGAATTAACTCCACCCCAAGA
TGAGACTCAGACCTCTCCAAGAACAGGAGTCTTGAAAACTAGCAGTGACCATCTGTCTCC
CCGGCCTAACCAGAACAAGAACACCAATCAACT

GTAAGGAGCAAGCAAAGAATTGTCTCCAGGGCTTTGAGGGTTTGGTATCTAGCAAATAGG
ACTGTCCTAAGAACAGATTGCTCCAAATTACCAACTCTTGTAACATAGACTTTTTCTCAA
AAAAAAAGAAAAAAAAAAAAGGAAAAGAAAAAAGGACTTATCTAGGTTAGGAGTGTAATT
TTGTAGAATTCGTGTGTGGCATACACTAGGACCTACATTCCATCCACAGAAAAGAAGGGG
CTCTCACTGCTAACCTTCCACCTTTGGGTTCTGATCAGAAAGGGTCCCCTCTTTCTAGCT
CCCTTTTGTGGATACTAACCCAAGTCCAGAGCCTGCTCTGCCGGACATTGCTTCCTCTAA
AGACACCCATCCCACGTAGCCATTCAGACTTACACTGAGGAGCAGTCCTGCCCCTTGAGA
CTTGTAACTCTGATCCATCTCCTACCTCCTAGCTGCTGAGACCTCCAGCTCTGTTGTCTT
CTTTTAAACACTAATGAAATTGACTTGATCAACTTGAACAGAGCCGGTATAGCAGCTCAC
AGGTGTCTTCATCGAAGTCAGAAGCTGGCCTGCCCTGTTCTGTTATCTGGTCACTGTCTG
CAGTTTCTCTGAAAACAACACACTTCCACCATATAATATGTGCTTAAGTGAGTGCTGTCA
AGCCAAGCTTACCCTTCTGAAGTGTTGCTTAGCCTCCCAGTGCTGTGTCTGCCTCTCTCC
CATATTTGTGTCTGATGGGAGAGAAGGTGAGGTCTACCACTGGAAATTCTGAGGCTAGTC
TTAGTAAGAAACCACTAATAGGACATATACATGATGAGGCTGGAGAGATGGCTTAGCAGT
GAGAGTACCGACTGCTCTTCCAGAGGAACTTGGTTCCCAGCACCCACACAGCAGCTCCGA
ACCATCTGTAACTCCATTTGCAGGAGATCTAGGGCCTTTGTTGGTCTGTGACAGCACCAG
GCATGCACATGAAGCATAGAAGTATTTAATATGTTAAAAA..........