-1kb

32168460(c.-4458C>T), 32168640(c.-4278C>A), 32169013(c.-3905A>G), 32169138(c.-3780G>A), 32169192(c.-3726A>C), 32169271(c.-3647T>C), 32169290(c.-3628T>G), 32169349(c.-3569A>G), 32169491(c.-3427C>G), 32170232(c.-2686C>T), 32170282(c.-2636A>C), 32171256(c.-1662G>A), 32171280(c.-1638G>A), 32171334(c.-1584G>C), 32171408(c.-1510C>T), 32171411(c.-1507G>A), 32171501(c.-1417G>A), 32171571(c.-1347T>C), 32171698(c.-1220A>G), 32171888(c.-1030T>C), 32171947(c.-971T>A), 32172167(c.-751C>A), 32172530(c.-388G>A), 32172745(c.-173A>G), 32172825(c.-93A>C), 32172827(c.-91G>T), 32172861(c.-57A>G),

5'UTR

CDS

32310826(c.248C>T),

3'UTR

32310859(c.*2G>C), 32310894(c.*37A>G), 32310949(c.*92T>A), 32311018(c.*161A>C),

INTRON

32173225(c.91+217A>G), 32173323(c.91+315A>G), 32173407(c.91+399T>C), 32173827(c.91+819A>G), 32173875(c.91+867G>C), 32173880(c.91+872T>C), 32173925(c.91+917T>G), 32173936(c.91+928G>T), 32174219(c.91+1211T>G), 32174307(c.91+1299A>G), 32174515(c.91+1507C>T), 32174562(c.91+1554A>C), 32174618(c.91+1610A>T), 32174662(c.91+1654C>T), 32174663(c.91+1655A>G), 32174767(c.91+1759T>G), 32174941(c.91+1933C>T), 32174944(c.91+1936G>A), 32175040(c.91+2032T>C), 32175072(c.91+2064C>G), 32175130(c.91+2122A>G), 32175335(c.91+2327C>G), 32175380(c.91+2372T>A), 32175401(c.91+2393C>G), 32175572(c.91+2564G>A), 32175582(c.91+2574C>T), 32175599(c.91+2591A>G), 32175610(c.91+2602A>T), 32175681(c.91+2673A>G), 32175713(c.91+2705G>A), 32175728(c.91+2720T>C), 32176082(c.91+3074C>G), 32176107(c.91+3099A>G), 32176133(c.91+3125T>C), 32176168(c.91+3160T>C), 32176431(c.91+3423C>T), 32176468(c.91+3460G>A), 32176553(c.91+3545A>G), 32176596(c.91+3588T>C), 32176657(c.91+3649G>A), 32176722(c.91+3714T>C), 32176759(c.91+3751G>A), 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+1kb

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-1kb

5'UTR

CDS

3'UTR

INTRON

32174618 (c.91+1616dupT), 32175352 (c.91+2347dupT), 32175562 (c.91+2555_91+2557dupTTT), 32176280 (c.91+3271_91+3272dupAA), 32176302 (c.91+3294_91+3295insC), 32176304 (c.91+3296_91+3297insC), 32177515 (c.91+4507_91+4508insAA), 32178585 (c.91+5577_91+5578insC), 32181342 (c.91+8338dupT), 32182034 (c.91+9025_91+9026dupAT), 32182913 (c.91+9906_91+9912dupATACACA), 32186157 (c.91+13148_91+13150dupATT), 32186883 (c.91+13883dupA), 32192036 (c.91+19028_91+19029insGGGG), 32195068 (c.91+22060dupC), 32197657 (c.91+24649_91+24650insTT), 32200030 (c.91+27023dupT), 32200430 (c.91+27431_91+27432dupTT), 32200440 (c.91+27431_91+27432dupTT), 32202434 (c.91+29428dupT), 32204482 (c.91+31474dupC), 32205186 (c.91+32179_91+32180insGA), 32208013 (c.91+35007dupG), 32208663 (c.92-35236_92-35235insTA), 32208667 (c.92-35233_92-35232insAT), 32209075 (c.92-34825_92-34824insG), 32209241 (c.92-34657_92-34656insGTATTTTT), 32210793 (c.92-33107dupC), 32210876 (c.92-33023_92-33022insGA), 32211533 (c.92-32363dupT), 32212553 (c.92-31346_92-31345insTCAG), 32212776 (c.92-31122_92-31121insTCC), 32213453 (c.92-30447_92-30446insAG), 32213647 (c.92-30253_92-30252insGGTGA), 32214762 (c.92-29138_92-29137insG), 32217988 (c.92-25912_92-25911dupGG), 32218150 (c.92-25750_92-25749dupAA), 32218727 (c.92-25173dupA), 32218745 (c.92-25153dupT), 32221771 (c.92-22129dupG), 32226319 (c.92-17575_92-17574dupTT), 32226698 (c.92-17199dupC), 32227026 (c.92-16874_92-16873insAGTA), 32227140 (c.92-16760_92-16759insA), 32228395 (c.92-15500dupA), 32228399 (c.92-15500dupA), 32230600 (c.92-13298_92-13297insAAA), 32232696 (c.92-11204_92-11203insG), 32233649 (c.92-10245dupT), 32233653 (c.92-10245dupT), 32235180 (c.92-8717dupA), 32235862 (c.92-8035_92-8034insGGCACCA), 32236147 (c.92-7753_92-7752insT), 32236962 (c.92-6933_92-6932dupGA), 32237595 (c.92-6305dupA), 32238132 (c.92-5768_92-5767insGA), 32238257 (c.92-5635dupT), 32238590 (c.92-5306dupC), 32240909 (c.92-2991_92-2990insGAG), 32241187 (c.92-2711dupT), 32243437 (c.92-460dupT), 32248354 (c.219+4328dupG), 32249852 (c.219+5834dupT), 32250407 (c.219+6380dupT), 32251751 (c.219+7724_219+7725insC), 32253331 (c.219+9304_219+9305insCA), 32255866 (c.219+11840_219+11841insCT), 32256872 (c.219+12845_219+12846insA), 32256874 (c.219+12847_219+12848insA), 32257088 (c.219+13070dupA), 32257465 (c.219+13445dupT), 32258474 (c.219+14453dupA), 32266763 (c.219+22736_219+22737insG), 32267014 (c.219+22988dupT), 32267283 (c.219+23257dupC), 32267969 (c.219+23946_219+23947dupGA), 32267974 (c.219+23946_219+23947dupGA), 32268032 (c.219+24005_219+24006insT), 32268601 (c.219+24574_219+24575insCC), 32271542 (c.219+27517dupA), 32272588 (c.219+28565_219+28566insAGGTACTCTACT), 32281861 (c.220-28936_220-28935insTT), 32286112 (c.220-24686_220-24685insA), 32286229 (c.220-24569_220-24568insGTTTT), 32286296 (c.220-24504_220-24502dupTTT), 32286356 (c.220-24442_220-24441insAAACA), 32286669 (c.220-24125_220-24124dupAA), 32286673 (c.220-24124dupA), 32291352 (c.220-19444_220-19443insATTA), 32292868 (c.220-17925dupT), 32294948 (c.220-15842dupT), 32298765 (c.220-12026dupA), 32299331 (c.220-11466_220-11465dupAA), 32299884 (c.220-10907dupT), 32303983 (c.220-6819_220-6815dupTTGAA), 32304537 (c.220-6261_220-6260insATTTTT), 32305481 (c.220-5317_220-5316insGCCACTAC), 32306959 (c.220-3838dupT), 32308659 (c.220-2135dupT), 32309950 (c.220-849_220-848dupTT),

+1kb

32312364 (c.*1507_*1508insAA), 32314101 (c.*3244_*3245insT), 32315330 (c.*4473_*4474insCTTA),

-1kb

32169032 (c.-3885delT),

5'UTR

CDS

3'UTR

INTRON

32175786 (c.91+2780_91+2782delAAT), 32176635 (c.91+3628_91+3631delGTTT), 32176863 (c.91+3870_91+3873delTTTT), 32177146 (c.91+4147delT), 32177222 (c.91+4215delC), 32177436 (c.91+4429delC), 32180698 (c.91+7691_91+7693delTAT), 32180727 (c.91+7720delA), 32180799 (c.91+7792_91+7793delAT), 32180839 (c.91+7839delT), 32180846 (c.91+7839delT), 32181076 (c.91+8069_91+8070delGT), 32182072 (c.91+9070delT), 32182077 (c.91+9070delT), 32183985 (c.91+10980_91+10982delTAT), 32191167 (c.91+18165_91+18167delTCT), 32191966 (c.91+18959_91+18963delAAAAA), 32192246 (c.91+19249_91+19253delAAAAA), 32193572 (c.91+20574_91+20576delTTT), 32194947 (c.91+21940_91+21948delAGGATTAAG), 32195797 (c.91+22790_91+22795delATATAG), 32196703 (c.91+23696_91+23697delAA), 32199089 (c.91+26090delT), 32200535 (c.91+27528delA), 32200564 (c.91+27557delC), 32200936 (c.91+27931delA), 32201280 (c.91+28285_91+28288delATAT), 32202343 (c.91+29336_91+29344delTGTTTCTAG), 32203300 (c.91+30297_91+30299delCTT), 32204531 (c.91+31529delT), 32204536 (c.91+31529delT), 32205597 (c.91+32590delC), 32207419 (c.91+34417_91+34420delAACT), 32207649 (c.91+34644_91+34652delTTCGTGCCA), 32208334 (c.91+35333_91+35334delAA), 32208604 (c.92-35295_92-35290delGCTGGC), 32208691 (c.92-35208_92-35207delAG), 32208950 (c.92-34949_92-34945delTTTTT), 32209227 (c.92-34672delT), 32211435 (c.92-32464delA), 32212224 (c.92-31675_92-31673delCCC), 32212324 (c.92-31573delT), 32213261 (c.92-30638_92-30637delAA), 32213673 (c.92-30226_92-30225delTT), 32214140 (c.92-29752delA), 32214929 (c.92-28966_92-28964delTCT), 32217818 (c.92-26079_92-26072delACTTACAT), 32218101 (c.92-25798delA), 32220842 (c.92-23046_92-23043delCAAA), 32221562 (c.92-22337delT), 32221574 (c.92-22325_92-22324delTT), 32221826 (c.92-22073_92-22070delTTTT), 32221856 (c.92-22035_92-22032delTTTT), 32221864 (c.92-22035_92-22032delTTTT), 32222987 (c.92-20909_92-20902delAGTGTGTG), 32223152 (c.92-20747_92-20746delCT), 32223165 (c.92-20734_92-20728delGTTTCTT), 32223454 (c.92-20444_92-20443delGT), 32225159 (c.92-18735delT), 32225384 (c.92-18515delC), 32225567 (c.92-18330delT), 32227337 (c.92-16558delA), 32228326 (c.92-15573delA), 32231031 (c.92-12861delT), 32232063 (c.92-11835_92-11834delCA), 32233622 (c.92-10277_92-10276delTT), 32234596 (c.92-9303delC), 32235782 (c.92-8117delG), 32237117 (c.92-6782_92-6779delGGGC), 32237287 (c.92-6605_92-6602delTTTT), 32237726 (c.92-6165delT), 32237924 (c.92-5971_92-5968delTAGT), 32240418 (c.92-3480delC), 32247589 (c.219+3571delA), 32248809 (c.219+4792delT), 32249264 (c.219+5240delC), 32250414 (c.219+6391_219+6392delCT), 32250417 (c.219+6391_219+6392delCT), 32252462 (c.219+8436_219+8439delAAAA), 32252519 (c.219+8493_219+8495delCTC), 32253420 (c.219+9394delA), 32253492 (c.219+9466_219+9469delAGAG), 32254238 (c.219+10220delA), 32254755 (c.219+10729delA), 32254976 (c.219+10954_219+10956delATA), 32256411 (c.219+12403_219+12410delTTGTTTGT), 32256774 (c.219+12748_219+12749delCC), 32259326 (c.219+15306delT), 32267595 (c.219+23579_219+23580delAA), 32270641 (c.219+26621_219+26628delGGGGGGGG), 32270817 (c.219+26794_219+26797delATTT), 32271315 (c.219+27289_219+27290delTT), 32271335 (c.219+27309delC), 32272094 (c.219+28072_219+28075delAGTG), 32274582 (c.219+30556_219+30558delGGG), 32275335 (c.219+31309delT), 32275350 (c.219+31324delA), 32275435 (c.219+31411delA), 32275437 (c.219+31411delA), 32277798 (c.220-32996_220-32989delGCTTGCTT), 32280392 (c.220-30404delC), 32281992 (c.220-28805delT), 32282949 (c.220-27848_220-27844delTGGAA), 32286561 (c.220-24236delA), 32287409 (c.220-23385_220-23382delCTTA), 32288020 (c.220-22777delG), 32290501 (c.220-20296_220-20295delGA), 32290579 (c.220-20211_220-20210delTT), 32290586 (c.220-20211_220-20210delTT), 32292634 (c.220-18157delT), 32295936 (c.220-14853_220-14852delAA), 32297272 (c.220-13523delT), 32298509 (c.220-12281_220-12279delAAA), 32298885 (c.220-11912delT), 32299291 (c.220-11506delT), 32299465 (c.220-11329delA), 32303048 (c.220-7749_220-7748delAC), 32303503 (c.220-7294delC), 32304054 (c.220-6733delT), 32305192 (c.220-5604_220-5602delTCT), 32305531 (c.220-5258_220-5257delTT), 32305539 (c.220-5258_220-5257delTT), 32306044 (c.220-4753delC), 32306917 (c.220-3880delG), 32309422 (c.220-1370delT), 32309709 (c.220-1076_220-1075delTT), 32310568 (c.220-223delT),

+1kb

32314997 (c.*4141delA), 32315871 (c.*5015delT),

MGEEKYLPELMAEKDSLDPSFVHASRLLAEEIEKFQGSDGKKEDEEKKYLDVISNKNIKL
SERVLIPVKQYPKECAANLYLPASVNSEVTHI*

MGEEKYLPELMAEKDSLDPSFVHASRLLAEEIEKFQGSDGKKEDEEKKYLDVISNKNIKL
SERVLIPVKQYPKECAANLYLPVSVNSEVTHI*

..........GCTTGGGAAAAGATAATTTTAAAGAAAGAATCATTTCATTTTAAGTAGAC
AAGGTACAGCACAGGGGTCCCATCTGGAAGGGAAGGGTACCTCCCTTATCCCTCCTTCCT
TGGCGATGATTCTTGTGGGTAAAATACTCATTTAAATAAAGGTGGGGCATATACAAAGTA
GTTCAGCAGCATTCCCATGGCAGCGAAAGAGACCCTGATGTCTAAAATAGGAGAACATCA
GAGCGACAGAAGTTAGGCATCATCTAGCTTCTTTCATTCACAATTCTCCCAGCTAAGTTT
ACACAGTGAGTGAATTTTGCACCATAAGAATGGGTGGATCCCTAGAACTAATTCTGTATC
ACGGGCAAGGTACACTGGAAGCGTTTTGCTCTACTACAGAATCCAGGCACTTCTTCATTT
GTACATTAGTGGACATCCTTCTGCCCCAAGATATAGGTCATGGGAAACACAGCCCACATT
TTGTCTCAGATTTCCAACCTTGCCCAAGAGTCTGCGATCATCCAGGGGAGAGACACCTGT
GCCTTGGAGACCTAGGTGAAGTGCTCAGCCTCTGTGCTCATGGGGCACACATTCTTGCTC
TCTCATCCTCGTGCCTGCCTGGCAGCCCGCACCCACTCCACAGCACTGGCCAGACCTGAG
AACACGGCGGGCTAAGGCGGCCAGGAGAGTGCGCTTGCACTTCGCACACCCCTCCCCTCC
GCAGCAGCCTCCTGCCACTCAGGCGACTCGACTTGCGGCCCCGCCCAATGATAGTCCATA
GTCTCCGCGTGCGCCCCGCCCTCGGACCCCGCTTCCAATAGGAAGCCGGCGGGGTTGGGC
CGCACGGGCATCCTCTCCAGCTGAGGCCGCGGCCGGAGCCTGGCTGGGGCGCGGGAGAGG
CAGGTACCAGCGCGGTCTGCGCAGCCCCAGGCGCTAGAGCTGCGCTCTCCTGTGGAAGAA
CGGTTCCCGGGGGAGCCAGGGACCGAGGCGTCGGAGCGGGCGGAAATTGC

GCCTGACCGGGCACGGTCCGAAGTCCGCGCTATGGGAGAAGAGAAATACTTGCCTGAGCT
GATGGCAGAGAAGGATAGCCTGGATCCATCTTTTGTGCACGCGTCGCGCCTTCTGGCGGA
AG

GTAGGACCGGCTGGGCTCCTGCCAG..........TTGTGATTATTATTTTTTCTTTCAG

AAATTGAGAAATTTCAAGGTTCAGATGGGAAAAAGGAAGATGAAGAAAAGAAATATCTCG
ATGTCATCAGCAACAAAAACATAAAGCTCTCTGAAAGAGTATTGATTCCTGTGAAACAGT
ATCCAAAG

GTACTGCATGCATGCAGCATGTACT..........TTCTCTGTTTGTTTGTTTATTTCAG

GAGTGTGCAGCAAACCTTTATCTTCCTGTTTCTGTGAATTCTGAAGTCACCCATATCTAG
TCCCTATGGCTCCTAAGAAATTTTTGATTTGTCACTGTTAAAAATCTGGACTTTACACTG
ATTCTTGGACTGGTGGTTCTTATCCATCAGCATGCTGAACCTTAGTACCTGTCTCATCTC
CAGCTGTTTTGCCAGAGCTGCCGCCTTCCCAATGCAGCTCCATGAGCTTGCCCAATTCAA
ACTTGGGTTTCTTCAGCATTTTTACTTTTCTAATAAAGACATCATGAAGAGAA

TAAATGGACTGGCGAGCCTTTTCTATGTCTTTCCCAATGCTGTCTGGAATCAATTTATTA
ACTACTTCCTTCAAGTCATTGGTTTGCACCTCTCGGGTCATGATTTCCATCATCTTCTTA
AATATAATCTACTCACATTATATAATGTTACTTATACATAGTTTTGACACAGCTCTTTGG
CATTAGGAAATCCATTGGTGTACTCTTCCCTCCAGAAGACCACTACCAATCCCAGCTTTA
TTCAGTTGGCTGTTAATTCATCAATTTTGGCCAATCCATTGGGTTCATCCTTGTTCAGCT
CTTGTGTGGGCAGTGAGATAAGTAAAGACTTGATGGGTTGTAGCTTCTGATATTTCTAGG
AGGCACGATCACACAGCAAACTTCTTAATCTTCTGGCAATTGTATATCAAATTTCAGTAG
ACAACTGTACAGTAAGTGTATAGTAAGACATTGTTGATCCTAGAGGTAACCATGCCTGCT
GTACCTGGAATTTTTACATATACAGAACACTGAACCTTAAAAGAACAGAATGCTGAGATA
TAACATATACATAGTTTTATCTCAGTTACACATTCTTTCTAAGTTTTCATTATAGATTTG
TTTTATTTCTTTACATAAAGTTGATAGACTCTATTTCTTCAGTAGAGTCACATTAGATTT
CCTTAGCAAACCAACACTAGAGAAACTTTTCATAGCTTGATTCAATGGTTGTTAGAGATG
CCACAAAGAAAGATATTTGGGTGGTTTCTAGTAACCACAGGCAACTTCTCAGGTGTTCAC
TGACCTCTGGCCAATAACTTCTAGAAGCAGGATGGTGGGGGTCGGGGGGCATGGCAAGGA
GACTCGTTTGAAAGCTGCTTTGGAATGAAGGGTGTCAATAACCTTCCTAGTAGAAAAGAC
AACTTTCCTAGTCATTCTCCTCAGTAAATCTGTCTTGAACTTCCTAACATTTGGGGTGTG
AATGAAATTCACACTGATACATGTATGATTTTCTGACTCA..........