+1kb

52929667(c.-26G>A), 52929674(c.-33C>T), 52929753(c.-112A>C), 52929768(c.-127T>C), 52929772(c.-131G>T), 52929775(c.-134G>A), 52929780(c.-139G>A), 52929788(c.-147T>A), 52929810(c.-169C>T), 52929957(c.-316A>G), 52929978(c.-337T>C), 52930064(c.-423G>T), 52930085(c.-444C>A), 52930240(c.-599T>C), 52930266(c.-625T>C), 52930372(c.-731C>T), 52930382(c.-741A>G), 52930394(c.-753C>G), 52930526(c.-885T>A), 52930561(c.-920C>T), 52930592(c.-951T>C), 52930728(c.-1087G>A), 52930746(c.-1105C>T), 52930815(c.-1174C>T), 52930938(c.-1297T>A), 52930949(c.-1308C>A), 52931012(c.-1371C>T), 52931148(c.-1507C>T), 52931233(c.-1592A>G), 52931335(c.-1694T>C), 52931400(c.-1759C>G), 52931548(c.-1907T>C), 52931608(c.-1967T>C), 52931698(c.-2057G>A), 52931716(c.-2075T>G), 52931747(c.-2106C>T), 52931782(c.-2141C>T), 52932379(c.-2738G>T), 52932433(c.-2792T>C), 52932782(c.-3141G>A), 52932824(c.-3183C>G), 52933031(c.-3390G>A), 52933190(c.-3549A>G), 52933424(c.-3783T>C), 52933497(c.-3856G>A), 52933503(c.-3862T>A), 52933929(c.-4288C>T), 52934510(c.-4869G>C),

5'UTR

CDS

52929598(c.44T>G), 52929606(c.36G>A),

3'UTR

52907393(c.*1918A>G), 52907905(c.*1406G>A), 52908051(c.*1260G>C), 52908597(c.*714A>G), 52908892(c.*419A>C), 52908893(c.*418T>C), 52909074(c.*237C>T),

INTRON

52909481(c.344-166G>C), 52909523(c.344-208A>C), 52909701(c.344-386A>G), 52910405(c.344-1090G>A), 52910587(c.344-1272A>G), 52910675(c.344-1360A>C), 52910730(c.344-1415G>T), 52910768(c.344-1453G>A), 52911460(c.344-2145C>T), 52912148(c.344-2833C>T), 52913603(c.344-4288A>G), 52913654(c.344-4339A>T), 52913656(c.344-4341A>T), 52913659(c.344-4344A>G), 52913807(c.344-4492G>A), 52913819(c.344-4504T>G), 52913829(c.344-4514C>T), 52913840(c.344-4525A>G), 52913971(c.344-4656T>C), 52913999(c.344-4684A>G), 52914099(c.344-4784A>G), 52915006(c.343+3995T>C), 52915031(c.343+3970C>A), 52915268(c.343+3733G>A), 52915293(c.343+3708T>C), 52915299(c.343+3702C>T), 52915341(c.343+3660G>C), 52915398(c.343+3603T>C), 52915405(c.343+3596A>T), 52915412(c.343+3589T>C), 52915509(c.343+3492C>G), 52915608(c.343+3393C>T), 52915753(c.343+3248G>A), 52915914(c.343+3087C>T), 52915985(c.343+3016C>T), 52915989(c.343+3012C>G), 52916188(c.343+2813A>C), 52916389(c.343+2612C>T), 52916999(c.343+2002G>A), 52917023(c.343+1978C>T), 52917041(c.343+1960T>C), 52917128(c.343+1873G>A), 52917141(c.343+1860G>A), 52917195(c.343+1806A>T), 52917280(c.343+1721C>A), 52917281(c.343+1720T>G), 52917448(c.343+1553G>A), 52917593(c.343+1408G>A), 52917616(c.343+1385C>T), 52918032(c.343+969C>T), 52918206(c.343+795G>T), 52918241(c.343+760G>A), 52918677(c.343+324T>C), 52918889(c.343+112G>T), 52918905(c.343+96A>G), 52919110(c.256-22T>C), 52919321(c.188-55C>T), 52919348(c.188-82G>A), 52919683(c.188-417T>C), 52919705(c.188-439A>G), 52919731(c.188-465C>T), 52920101(c.188-835G>A), 52920250(c.188-984G>A), 52920287(c.188-1021A>G), 52920312(c.188-1046A>C), 52920453(c.188-1187G>C), 52920768(c.188-1502C>T), 52920891(c.188-1625G>A), 52920916(c.188-1650C>A), 52920938(c.188-1672G>A), 52920969(c.188-1703C>T), 52921132(c.188-1866T>C), 52921226(c.188-1960G>A), 52921332(c.188-2066C>G), 52921351(c.188-2085T>C), 52921358(c.188-2092A>C), 52921444(c.188-2178T>C), 52921496(c.188-2230C>T), 52921735(c.188-2469G>A), 52921806(c.188-2540G>A), 52922370(c.188-3104T>G), 52922847(c.188-3581A>G), 52922945(c.188-3679T>A), 52923392(c.188-4126C>G), 52923394(c.188-4128G>C), 52923413(c.188-4147G>C), 52923450(c.188-4184A>G), 52923511(c.188-4245C>A), 52923782(c.188-4516T>C), 52923801(c.188-4535A>G), 52924124(c.188-4858T>C), 52924352(c.188-5086C>T), 52924506(c.187+4949G>A), 52924602(c.187+4853A>G), 52924732(c.187+4723A>G), 52924873(c.187+4582G>T), 52924946(c.187+4509T>C), 52925037(c.187+4418G>C), 52925224(c.187+4231T>C), 52925531(c.187+3924G>A), 52925542(c.187+3913C>T), 52925619(c.187+3836G>A), 52926092(c.187+3363A>G), 52926408(c.187+3047A>G), 52926586(c.187+2869A>C), 52926727(c.187+2728A>C), 52926842(c.187+2613C>A), 52926988(c.187+2467G>A), 52927144(c.187+2311T>C), 52927265(c.187+2190A>G), 52927347(c.187+2108G>A), 52928055(c.187+1400T>G), 52928136(c.187+1319A>G), 52928137(c.187+1318C>A), 52928141(c.187+1314C>T), 52928222(c.187+1233G>A), 52928379(c.187+1076G>A), 52928399(c.187+1056G>A), 52928414(c.187+1041G>A), 52928420(c.187+1035G>A), 52928422(c.187+1033A>T), 52928457(c.187+998C>T), 52928458(c.187+997G>A), 52928800(c.187+655T>C), 52929203(c.187+252C>T), 52929360(c.187+95T>A),

-1kb

52902069(c.*7242C>T), 52903000(c.*6311A>T), 52903223(c.*6088T>G), 52903498(c.*5813C>T), 52903506(c.*5805T>C), 52903597(c.*5714T>C), 52903626(c.*5685G>A), 52903627(c.*5684T>C), 52903844(c.*5467T>C), 52903915(c.*5396C>T), 52904036(c.*5275T>C), 52904102(c.*5209G>A), 52904174(c.*5137T>C), 52904535(c.*4776G>T), 52904583(c.*4728T>G), 52904586(c.*4725T>G), 52904589(c.*4722T>G), 52904591(c.*4720G>T), 52905566(c.*3745T>C), 52905673(c.*3638A>G), 52905882(c.*3429A>G), 52905904(c.*3407C>A), 52906189(c.*3122C>G), 52906272(c.*3039A>T), 52906604(c.*2707C>T), 52906655(c.*2656A>G), 52907005(c.*2306A>G),

+1kb

52930399 (c.-759_-758insGGA),

5'UTR

CDS

3'UTR

INTRON

52912853 (c.344-3540_344-3539dupCA), 52914390 (c.343+4610dupT), 52915186 (c.343+3814_343+3815insCTC), 52921337 (c.188-2072_188-2071insT), 52922481 (c.188-3216_188-3215insCTGTTC),

-1kb

52902657 (c.*6651_*6653dupTTT), 52903659 (c.*5651_*5652insT), 52903661 (c.*5649_*5650insAT), 52903885 (c.*5425_*5426insTCATA),

+1kb

52930105 (c.-466_-465delTT), 52930348 (c.-710_-708delCCG), 52931197 (c.-1572_-1557delGCAGGGAGGCAGGGAT), 52932762 (c.-3122delC), 52933655 (c.-4015delA), 52933709 (c.-4070_-4069delTA), 52933718 (c.-4079_-4078delTT), 52934653 (c.-5013delC),

5'UTR

CDS

3'UTR

52907113 (c.*2196_*2197delTT), 52907323 (c.*1981_*1987delACGTGTC),

INTRON

52909858 (c.344-547_344-544delTTTA), 52913442 (c.344-4128delC), 52917300 (c.343+1695_343+1700delGTGGGG), 52920179 (c.188-920_188-914delTCTGGAC), 52920811 (c.188-1552_188-1546delCCCCCCC), 52922327 (c.188-3062delT), 52924489 (c.187+4960_187+4965delCATTGG), 52926991 (c.187+2456_187+2463delCCCTACCC),

-1kb

52903647 (c.*5661_*5663delAGA), 52904484 (c.*4824_*4826delCCC), 52904496 (c.*4811_*4814delCACC), 52905864 (c.*3444_*3446delAAA), 52907030 (c.*2278_*2280delGCT),

MAAAAPGALGALRTVGVRLVAACCARLGPAAWARGTAPRRGYSSEVKTEDELRVRHLEEE
NRGIVVLGINRAYGKNALSKNLLKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAE*

MAAAAPGALGALRTGGVRLVAACCARLGPAAWARGTAPRRGYSSEVKTEDELRVRHLEEE
NRGIVVLGINRAYGKNALSKNLLKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAE*

..........TGGTCTGCCTGCTTGTTTGCGTGAGGGTGCCAGATCCTCTGGAACTTGAT
TTACAGACAACTCTGTGCTGCCATGCAGGTGTGGGGAATTGAATTTGGGGGTCCTCCGGA
AGAGCAGCAAGTGCTCTTAACCACTGAGCCATCTCTCTAGTCCTTATACCGGAATTTATA
TGGCCAGAGTGTAATTTGCTTGTCTGGAAGGACAGGGAATACTCTAAGGAGACATTCTAT
CTCTTCCTTTAGATTCAGACTAGGAAGGCTCGCTCCTCAGGGGACTGGAAAATCTCCACT
CCCAACCCCCCCCCCGCCCCCCCCCCCAGTGGAGAAGGAAAAGCTTAAATTTCTCACAGA
TAGTGCTGGGTCAAAGATGAAAGGGACCACACATTAACCTGGGCCTGGCTATGCATGATT
TTGGCTCTCTACTTCAACTTGTGTGAGGCTTCTGTCTAAAGATAAGTTCCTCCTCTGACT
GGTCCTAAACTTCCCCATCTTCACCTGGGATTCAGGGAAGAGAGGAGGGAGTCCCCACTG
TTTTTTTTTTTTTTTTTTTCTTTTTGAGACAGGGTTTCTATGTCTCTGTCAGACCAGGCT
TGCCTCTGCCTCCCAAGTGCTGGGACTAAAGGTGTGTGCCACCACCGCCAGGTGGGAGTC
CCCACTGTTAAAGACCTTGTGGATTTCAACAATCTGATGATACACAGGGGAGGGGAACAA
GGGTCTGTCTTTCGAGTATCTTCCTTCCTTCCGGGATGGTCAGTCACAAGCCTACTATGG
ACCAAGTGCATGGAGGCAAGACCCTCTTGTCCTCTTCATTTAAGCGTTTCCACACTTTAA
AGATGCCTCTCCTTTTCTGAGCTGGCAAAACATTAAAGCTACCCAGGCGACCTAGGCAAA
GAGTGCCTGGGCGGGGCCAGACAACGAGGGGCGGGGCCAAAGCGACCGACGCCTGTCGTG
TGCGTGCGCGGCTCCAAGCGGGGGGCGGAGTCTGGCCACGGGCGCCCGCT

GTAAACATACAACATGGCGGCGGCGGCTCCAGGCGCTCTGGGCGCCTTAAGAACGGGTGG
CGTCCGCCTGGTGGCCGCGTGCTGCGCGCGGCTCGGCCCCGCGGCCTGGGCTAGGGGTAC
CGCCCCGAGGAGGGGCTACAGCTCGGAGGTGAAGACGGAGGATGAGTTGCGCGTGCGGCA
CCTGGAGGAGGAGAACCGAG

GTGAGCTGCAGGCAAGCGCGGGCGA..........GTCCTTCTTCTCCCTCCCTAACCAG

GCATTGTGGTGCTCGGGATTAACAGAGCTTATGGGAAAAATGCACTCAGTAAAAATCTCC
TCAAGATG

GTGAGTGGAAGACTACGCTGTTTGC..........CCCCCTCCCCCCTATCTTGGTTTAG

TTATCAAAAGCGGTGGATGCATTAAAGTCAGATAAGAAAGTTCGGACCATTATCATCAGA
AGTGAAGTCCCTGGGATATTCTGTGCTG

GTAGGTAAAATAATCTCCTGTTGTC..........TCTTACATTTGATCTTCTTCTCCAG

AGTGACCTTTTCACGGTTATGCGCCTGCGCTCTCTTCCGTCGATCCTGCTAGGATTCCCA
TCGGTTCCAAGGAAGTAATTGATTGGCTGTCATTAACTTCTAACTCTGTTTCCGCCTCAG
CAGACCAGCCGGAATACTGTCCTAGATTTTGTACATACCCTTTTCTTAGCACATCGGAGA
TACCCATTAGTAATGACGCTGCTGGCTCATCTTGCCTTTGGCCTGGCCACTCAGCACTTT
CTGCACACAACCCAAGTGATTGATCTCAGAGCACTGCGCCTGCCCAGCATCACCGCTGTC
TGGAAGGCTAGCTGAGGGCCCAGACCTGCCGGGCTAGCGACCTGCTGCACTGATATGCAC
AGGAGGCTTGCCAGATGGAAGCCACAGATCTCATGGTGTGGATGGAGATTTTCCTGCTCT
GTCCATTGGGCCTGTGGACGATATAGTGTCCCCTGTTAGGTGGAGGAAGGGGTCTTTGAC
AACAACAAATGATGCTGGGAGCCAGAAATCAGTCATGCAAGTAGTGGCCTCAAGCCACTT
GGAGAGACATGGGCACTTAGCCTACCCTGGTGCCTCCAGAATCACAGGCCTGCCTAGAGA
GACTGGGTGTGACCCACTGTGATGGTTTGAATATGCTTGGTCCAAGGAATAACATTATTA
GGAGGTGTGGCCTTGTTAGAATAGATGTGTCACTGTGGACGTGGGCTTCAAGACCCTCGT
CCTAGCTGCCTAGAAGCCAATCTTCTGCCAGCAGCCTTCAGATCAGATGAAGATGTAGAA
CTCTCCGCTCTTCCATCCCTGTGTCTGCCTGGATGCTGCCGTGCTCCCACCTTGATGATA
ATGGGCTGAACCTGTAAGCCAGGCACAATTAAGTGTTGTTTTTATGAGTTGCCTTGGTCA
TGGTGTCTGTTCACAGCAGTCAAACCCTAAGACACTCATCTAGAGATAATGACAGACACG
TCTGTAGTTGCTTTCCTAGCAACAGCAGGGCAGCTGACACCAAGCACGTTAGGTTTCATC
TGCCCTGGCCACAACCTCTTCTGCCCTGTGCCCTGCCTTTGCCCTCTTCTGTCACCTCTG
ACAGACAGCCCTTATTCTCTGGCAGACAAAGCTCATTCTCTTCCCAGACTCAGTACACCT
ATTGCTTGGAGCCAACTTGCCTCAGATCTTCCAGCCTCTGTAACTTTAATTTTTTTCAAA
TCTTATTTTTAATGATGGCTTTTAAAAACACTTTAACCTCCCTATAGCCCGCCTCCAACA
AGTGCTAGTGGAAAAGAAAGGATGGGGGTGGGGGAAGTGGACCTGTTTAGAAAGCAACTC
CAGTCTGTGTTGTCTGGAAATCTGGAAATCGGCAGTTCAGTTCACAGGTTAGCAGGCAGT
GGCAGCATGGTCCACTTGCAAACACCTCACAGATACACCAGCAATCGAGTTCGGAAGTCA
GGTTAGCAACAGCAGTGACACGACCTAGCAGAGATAGCCAGGTCTCAGCCTTGGCTCGAG
TCAGCAGGAGGGACCTTGCGGGTGGGGGGGAAACCAAGAGAAGTTCTCAGCCTCTCTCAG
GGAAGCGAAGATATGAGAGCCACAAACATCACGCAGCTAGCTGGACCAGCAAGCCAAGCT
CTGTCTCCATCGTTCCGTGGAGTCCTATTTATACCCTCCCAACATCGCATGTTTACCACG
TGCCTTGCCTCGGCAAGCTCATCCTATCAGCCCGAGTCCTCGGAAGCTGCAACAAACTAC
AGCACACCACCGGAAGTTTTTTTGTGCGTTTCTCTCTATGGAGTCCCGACAAATGCAGCT
CAACTACACAGTGTAAGGTGGACCAATACACGCATGTCATTAGCAAAGAATCCTTATCAC
GTGTCCTTTCACGAGCTTGCTTCAGCAGAGCATCCCCTCTCCTGTGTCTGCTTCAGCGAA
ACGTTCCTCCTTCACCAGGCTGCCTTAGCCTTTCACCTGTGACCACTTTGACGGAAGGTT
CCTTCACGTGTCTGCCCCAGCTAAACACCATCCAACCGACTTTCCAAAGAACCCTTAAGT
TTCCACTTTGGTCCTCAGAGGTGGTCCCCATTCACCTAACTATCCATTTTACTTCTGTAA
AAGTCCACCGATGCTGGAGAGCTGGCTCAGAAGTTAAGAACACTTACTGCAGGTTGCAGA
GGACCCGAGTTTGGTTCCCAGCACTCACGGCAGCCTGTAGTTCTTGGAAGCACACATTTA
CCTCACGTGTACCTACCATAGTTGACAATAATAAAAACCAGTCCATCTTTC

TGTTTGAGGCTGCTCTCTCACTGAAGCTGGAGCGTATTCGTTCGGCTAAGGTGGTCGGCT
GCTGAGCTTCAGGGATTCTCCTGGTGCTCCCCATTATGGAAGTGTGCTCCCAACTCAGAC
CCTCGTGCTTGCATAGCAGCTGCCCACCCAGCCGCACATCTTTCTCACTCACAGTTTATT
AGTAGCTTGTTTGTAACATGGCGGATGTAGCACTGAGAGGCCATACTATTGAGATATACA
GGTCCCTAAAGGCACTGTTTTGAAAGGTGTGTAGGATATTTTCCCTCCAGTGTGCTTTTG
TTGCATCCCAGATTTAGGTTCCCTTCATTGTATCTTATCTTGACTATATAAATGTCGACA
TGGTTTCAGAAGTTAGAACTGCAGAGGCGGCACCTTAGGAAAGCCCGTGCCCTCACCACT
GTACCCTTGCTTACGTCAGGTGGTAGTATACTCGGGAAACCGTTCCATGTGAGTTCCCAG
AACCGTGAAGGTGACCGCCATGAAAATGGGGTAAGTGGGACTCTCTGGAGGAGCCCTGGT
CAGCGTGCATGTGGGTGGAGTCCTTTACCCTATGAGGACAGCAGGGGTCTGGTGCCGGGC
AGGAGCAGAAGTTGAGAAAAAGCCTGAGGAAAACTGGAGTGAGTCCTGGTGGAATCCTGC
ACCACAGCTGCCCTGTGCTAGCCAGGTTTTTTAATTGGAAATTTTATGCTTAATTAGCAT
CCAAGGGGTGTTTGTCCTGGAGGAGATTCAGGCAGCTTTTCCACTACAAGCATTGCTGGG
GGCCTGGTAAGCCACCAAGCTCTGCTCTTCCAGAGAGCCTCTCTCCTCCTTAGCATCACC
TACCCATTCGCTCTCGATTCAGAGTGTCTAGAAATTTCCTGTGATAACTAGCCTGGTCTA
TAGGCCCCCACTGATTAAGGTCACGTTCCCACCCCACCCCTTTTGTGAGCATTATGATAG
TTTATGTAGCAAAAAGTTGCCTATAAAAATGCATATGAGT..........