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Sequences

Sequence NM_182638

GGTCCTACCCGGAAGCGCGCCCGGGCTCCTGCAGGCGGGGCGCTGTGCGCGCCGCGATCCGGTACGTGGGCCTCCGGGCTGTCCCCTCTGGGGGCGGCGA TCCTCCCTCCGGAGCCCCCCTTCAACCCTCCCGGAAGTGAGCATTTGCAGGACCAGGGATGCTGTGCTGCTCTCCCATGAGCCAGTCACCGAGTCGGTCT GCTGCAGCCCTTTCTGAACCTCTGGCCGTCTGGATGCTCCACTGTGCTTGCCAAGATGAAGTGCGTCTTGGTGGCCACTGAGGGCGCAGAGGTCCTCTTC TACTGGACAGATCAGGAGTTTGAAGAGAGTCTCCGGCTGAAGTTCGGGCAGTCAGAGAATGAGGAAGAAGAGCTCCCTGCCCTGGAGGACCAGCTCAGCA CCCTCCTAGCCCCGGTCATCATCTCCTCCATGACGATGCTGGAGAAGCTCTCGGACACCTACACCTGCTTCTCCACGGAAAATGGCAACTTCCTGTATGT CCTTCACCTGGCTGCGGCCCCCAGACCTGGCGCAGCGTGTCCAGCTGTGGGAGCACTTCCAGAGCCTGCTGTGGACCTACAGCCGCCTGCGGGAGCAGGA GCAGTGCTTCGCCGTGGAGCCACAGTGCCAGCTCCCTGCGCCCGGCCGACCTGCTTGCCCTCATCCTCCTGGTTCAGGACCTCTACCCCAGCGAGAGCAC AGCAGAGGACGACATTCAGGAGACAGACAGCTTCTCCCTCCCTGAGGAGTACTTCACACCAGCTCCTTCCCCTGGCGATCAGAGCTCAGGTAGCACCATC TGGCTGGAGGGGGGCACCCCCCCCATGGATGCCCTTCAGATAGCAGAGGACACCCTCCAAACACTGGTTCCCCACTGCCCTGTGCCTTCCGGCCCCAGAA GGATCTTCCTGGATGCCAACGTGAAGGAAAGCTACTGCCCCCTAGTGCCCCACACCATGTACTGCCTGCCCCTGTGGCAGGGCATCAACCTGGTGCTCCT GACCAGGAGCCCCAGCGCGCCCCTGGCCCTGGTTCTGTCCCAGCTGATGGATGGCTTCTCCATGCTGGAGAAGAAGCTGAAGGAAGGGCCGGAGCCCGGG GCCTCCCTGCGCTCCCAGCCCCTCGTGGGAGACCTGCGCCAGAGGATGGACAAGTTTGTCAAGAATCGAGGGGCACAGGAGATTCAGAGCACCTGGCTGG AGTTTAAGGCCAAGGCTTTCTCCAAAAGTGAGCCCGGATCCTCCTGGGAGCTGCTCCAGGCATGTGGGAAGCTGAAGCGGCAGCTCTGCGCCATCTACCG GCTGAACTTTCTGACCACAGCCCCCAGCAGGGGAGGCCCACACCTGCCCCAGCACCTGCAGGACCAAGTGCAGAGGCTCATGCGGGAGAAGCTGACGGAC TGGAAGGACTTCTTGCTGGTGAAGAGCAGGAGGAACATCACCATGGTGTCCTACCTAGAAGACTTCCCAGGCTTGGTGCACTTCATCTATGTGGACCGCA CCACTGGGCAGATGGTGGCGCCTTCCCTCAACTGCAGTCAAAAGACCTCGTCGGAGTTGGGCAAGGGGCCGCTGGCTGCCTTTGTCAAAACTAAGGTCTG GTCTCTGATCCAGCTGGCGCGCAGATACCTGCAGAAGGGCTACACCACGCTGCTGTTCCAGGAGGGGGATTTCTACTGCTCCTACTTCCTGTGGTTCGAG AATGACATGGGGTACAAACTCCAGATGATCGAGGTGCCCGTCCTCTCCGACGACTCAGTGCCTATCGGCATGCTGGGAGGAGACTACTACAGGAAGCTCC TGCGCTACTACAGCAAGAACCGCCCAACCGAGGCTGTCAGGTGCTACGAGCTGCTGGCCCTGCACCTGTCTGTCATCCCCACTGACCTGCTGGTGCAGCA GGCCGGCCAGCTGGCCCGGCGCCTCTGGGAGGCCTCCCGTATCCCCCTGCTCTAGGCCAAGGTGGCCGCAGTCTGCCTTTGCATCCTGTCCTCCAGCCAC CCTTGCTTGCCACTGTTCCCCATGACGAGAGCCTCCTGTCTGCAGTGGCCATCCTGAGGATAGGGCAGAGTGCCCAGGGTGGCCCCAGGGCTTCTAAAAC CCCACCTAGACCACCCTCCATGTCAGGTACTGAGCAAGGCCCCAGATCCTTCTCTCTGGAGGAAGAGGGAAGCCCAGGGGTCCTGTTTGTAAAACAACGG TGGCAACAGCTCCTCTTCCAGAGCTGCCTCTGCCTTTATCCTGGGAGATGGGGAGGAAGCCCCATCTCTGCTGTTCCCTGCGTGGAGGAAGCCCACCCAG CAAGCTCTCTCCTACCCCAGGTAAAAGGTGCTCCTTTGCCTGGGTTTGAATTCCAGCGCTGCCACTTCCTCTCTGCACCTCCTGGCAAGTTTCTTCTATT CCCCACGTTTAAAGCGATGGCACCTCCGTCCCAGGGTGGTGTGAGGATTACCCAGTGTGGTAGGTGCTCAATAAATGTTGGTCATTGTTATCACTGAAGC CCAACATGCTAGTGCTTCTAGACCCTTCTGTCAGTGCTGATAAGCCCTTGCTAAGTCCCAGCCCCTTCATGCTTGGCTGGCGTCTGCCCTAGGGCTGGGG TTCTCAAGCCCCTGGCCCTGGCCCAGAGATTTGGATTCCCTTGGCGGCCGTGGAGCCCAGCCTTTGATGTCTTTCAAAGCTTCTGTGGTGCGCCCTGGAT TGAGAACCACCACCCGAGGGGTACAGCCCCTCTCTTCCAACCGAGAAGTTCCTGTCCCAGAATGGACCCAGGGACAAGAGACCCTGAGAGCCCTGGGACT GGGAGTGTCTGCTCCTCTGAGGCCAGGAGGCCGGTGCTGGGCCAGAGAGGACGGCGTGGCGAAAGTCAGCGTCCACTGCAGCACAGGATCAGATGGCCGT GTGCTGTGCATGCAGGAGCCTCGCCTTCTGTGTCTTTAGTCTTGAGCCAAAATTTGCTCAAAGACTGATCTCTTCCTTGCAGGGAACAGCTTTGGGGCTG GGGGAACTAGAACCCACATGTTGGTCTAAACCCTGAGAAGGTGGCAGTGAGGAAGTATCCCCTCAGGTGACTGGATCTGTGTTCCTCCTTAACATCATCT GATGGAATGGCAATGAAAAGCGTGGATTGTGGAAAATACAGAAAAACATAAAGGAAAAAACTCCAATCCCCTGAGCCCACCACTGTTCAGGACCCCTGCT TTTGTCACCTACTATTTCCCTTTAGTTTTTAGCAGCGGCTGGATGTGATATGTCTAGTTTAACCAGTCCCCTTGATCTTTCTATATAATAAATAACACAG GAGTGAACATCCTGAATCAG

refseq_HPS1.F4 (forward primer)
refseq_HPS1.R4 (reverse primer)
Single exon skipping

Frame 0

GPTRKRARAPAGGALCAPRSGTWASGLSPLGAA ILPPEPPFNPPGSEHLQDQGCCAALP*ASHRVGL LQPFLNLWPSGCSTVLAKMKCVLVATEGAEVLF YWTDQEFEESLRLKFGQSENEEEELPALEDQLS TLLAPVIISSMTMLEKLSDTYTCFSTENGNFLYV LHLAAAPRPGAACPAVGALPEPAVDLQPPAGAG AVLRRGATVPAPCARPTCLPSSSWFRTSTPARA QQRTTFRRQTASPSLRSTSHQLLPLAIRAQVAPS GWRGAPPPWMPFR*QRTPSKHWFPTALCLPAPE GSSWMPT*RKATAP*CPTPCTACPCGRASTWCS *PGAPARPWPWFCPS*WMASPCWRRS*RKGRSPG PPCAPSPSWETCARGWTSLSRIEGHRRFRAPGW SLRPRLSPKVSPDPPGSCSRHVGS*SGSSAPST G*TF*PQPPAGEAHTCPSTCRTKCRGSCGRS*RT GRTSCW*RAGGTSPWCPT*KTSQAWCTSSMWTA PLGRWWRLPSTAVKRPRRSWARGRWLPLSKLRS GL*SSWRADTCRRATPRCCSRRGISTAPTSCGSR MTWGTNSR*SRCPSSPTTQCLSACWEETTTGSS CATTARTAQPRLSGATSCWPCTCLSSPLTCWCS RPASWPGASGRPPVSPCSRPRWPQSAFASCPPAT LACHCSP*REPPVCSGHPEDRAECPGWPQGF*N PT*TTLHVRY*ARPQILLSGGRGKPRGPVCKTT VATAPLPELPLPLSWEMGRKPHLCCSLRGGSPPS KLSPTPGKRCSFAWV*IPALPLPLCTSWQVSSI PHV*SDGTSVPGWCEDYPVW*VLNKCWSLLSLK PNMLVLLDPSVSADKPLLSPSPFMLGWRLP*GWG SQAPGPGPEIWIPLAAVEPSL*CLSKLLWCALD *EPPPEGYSPSLPTEKFLSQNGPRDKRP*EPWD WECLLL*GQEAGAGPERTAWRKSASTAAQDQMAV CCACRSLAFCVFSLEPKFAQRLISSLQGTALGL GELEPTCWSKP*EGGSEEVSPQVTGSVFLLNII *WNGNEKRGLWKIQKNIKEKTPIP*AHHCSGPLL LSPTISL*FLAAAGCDMSSLTSPLDLSI**ITQ E*TS*I

Frame 1

VLPGSAPGLLQAGRCARRDPVRGPPGCPLWGRR SSLRSPPSTLPEVSICRTRDAVLLSHEPVTESV CCSPF*TSGRLDAPLCLPR*SASWWPLRAQRSSS TGQIRSLKRVSG*SSGSQRMRKKSSLPWRTSSA PS*PRSSSPP*RCWRSSRTPTPASPRKMATSCM SFTWLRPPDLAQRVQLWEHFQSLLWTYSRLREQE QCFAVEPQCQLPAPGRPACPHPPGSGPLPQREH SRGRHSGDRQLLPP*GVLHTSSFPWRSELR*HH LAGGGHPPHGCPSDSRGHPPNTGSPLPCAFRPQK DLPGCQREGKLLPPSAPHHVLPAPVAGHQPGAP DQEPQRAPGPGSVPADGWLLHAGEEAEGRAGAR GLPALPAPRGRPAPEDGQVCQESRGTGDSEHLAG V*GQGFLQK*ARILLGAAPGMWEAEAAALRHLP AELSDHSPQQGRPTPAPAPAGPSAEAHAGEADG LEGLLAGEEQEEHHHGVLPRRLPRLGALHLCGPH HWADGGAFPQLQSKDLVGVGQGAAGCLCQN*GL VSDPAGAQIPAEGLHHAAVPGGGFLLLLLPVVR E*HGVQTPDDRGARPLRRLSAYRHAGRRLLQEAP ALLQQEPPNRGCQVLRAAGPAPVCHPH*PAGAA GRPAGPAPLGGLPYPPALGQGGRSLPLHPVLQP PLLATVPHDESLLSAVAILRIGQSAQGGPRASKT PPRPPSMSGTEQGPRSFSLEEEGSPGVLFVKQR WQQLLFQSCLCLYPGRWGGSPISAVPCVEEAHP ASSLLPQVKGAPLPGFEFQRCHFLSAPPGKFLLF PTFKAMAPPSQGGVRITQCGRCSINVGHCYH*S PTC*CF*TLLSVLISPC*VPAPSCLAGVCPRAG VLKPLALAQRFGFPWRPWSPAFDVFQSFCGAPWI ENHHPRGTAPLFQPRSSCPRMDPGTRDPESPGT GSVCSSEARRPVLGQRGRRGESQRPLQHRIRWP CAVHAGASPSVSLVLSQNLLKD*SLPCREQLWGW GN*NPHVGLNPEKVAVRKYPLR*LDLCSSLTSS DGMAMKSVDCGKYRKT*RKKLQSPEPTTVQDPC FCHLLFPFSF*QRLDVICLV*PVPLIFLYNK*HR SEHPES

Frame 2

SYPEARPGSCRRGAVRAAIRYVGLRAVPSGGGD PPSGAPLQPSRK*AFAGPGMLCCSPMSQSPSRS AAALSEPLAVWMLHCACQDEVRLGGH*GRRGPL LLDRSGV*RESPAEVRAVRE*GRRAPCPGGPAQH PPSPGHHLLHDDAGEALGHLHLLLHGKWQLPVC PSPGCGPQTWRSVSSCGSTSRACCGPTAACGSR SSASPWSHSASSLRPADLLALILLVQDLYPSEST AEDDIQETDSFSLPEEYFTPAPSPGDQSSGSTI WLEGGTPPMDALQIAEDTLQTLVPHCPVPSGPR RIFLDANVKESYCPLVPHTMYCLPLWQGINLVLL TRSPSAPLALVLSQLMDGFSMLEKKLKEGPEPG ASLRSQPLVGDLRQRMDKFVKNRGAQEIQSTWL EFKAKAFSKSEPGSSWELLQACGKLKRQLCAIYR LNFLTTAPSRGGPHLPQHLQDQVQRLMREKLTD WKDFLLVKSRRNITMVSYLEDFPGLVHFIYVDR TTGQMVAPSLNCSQKTSSELGKGPLAAFVKTKVW SLIQLARRYLQKGYTTLLFQEGDFYCSYFLWFE NDMGYKLQMIEVPVLSDDSVPIGMLGGDYYRKL LRYYSKNRPTEAVRCYELLALHLSVIPTDLLVQQ AGQLARRLWEASRIPLL*AKVAAVCLCILSSSH PCLPLFPMTRASCLQWPS*G*GRVPRVAPGLLK PHLDHPPCQVLSKAPDPSLWRKREAQGSCL*NNG GNSSSSRAASAFILGDGEEAPSLLFPAWRKPTQ QALSYPR*KVLLCLGLNSSAATSSLHLLASFFY SPRLKRWHLRPRVV*GLPSVVGAQ*MLVIVITEA QHASASRPFCQC**ALAKSQPLHAWLASALGLG FSSPWPWPRDLDSLGGRGAQPLMSFKASVVRPG LRTTTRGVQPLSSNREVPVPEWTQGQETLRALGL GVSAPLRPGGRCWAREDGVAKVSVHCSTGSDGR VLCMQEPRLLCL*S*AKICSKTDLFLAGNSFGA GGTRTHMLV*TLRRWQ*GSIPSGDWICVPP*HHL MEWQ*KAWIVENTEKHKGKNSNPLSPPLFRTPA FVTYYFPLVFSSGWM*YV*FNQSP*SFYIINNT GVNILNQ

Sequence NM_182637

GGTCCTACCCGGAAGCGCGCCCGGGCTCCTGCAGGCGGGGCGCTGTGCGCGCCGCGATCCGGTACGTGGGCCTCCGGGCTGTCCCCTCTGGGGGCGGCGA TCCTCCCTCCGGAGCCCCCCTTCAACCCTCCCGGAAGTGAGCATTTGCAGGACCAGGGATGCTGTGCTGCTCTCCCATGAGCCAGTCACCGAGTCGGTCT GCTGCAGCCCTTTCTGAACCTCTGGCCGTCTGGATGCTCCACTGTGCTTGCCAAGATGAAGTGCGTCTTGGTGGCCACTGAGGGCGCAGAGGTCCTCTTC TACTGGACAGATCAGGAGTTTGAAGAGAGTCTCCGGCTGAAGTTCGGGCAGTCAGAGAATGAGGAAGAAGAGCTCCCTGCCCTGGAGGACCAGCTCAGCA CCCTCCTAGCCCCGGTCATCATCTCCTCCATGACGATGCTGGAGAAGCTCTCGGACACCTACACCTGCTTCTCCACGGAAAATGGCAACTTCCTGTATGT CCTTCACCTGTTTGGAGAATGCCTGTTCATTGCCATCAATGGTGACCACACCGAGAGCGAGGGGGACCTGCGGCGGAAGCTGTATGTGCTCAAGTACCTG TTTGAAGTGCACTTTGGGCTGGTGACTGTGGACGGTCATCTTATCCGAAAGGAGCTGCGGCCCCCAGACCTGGCGCAGCGTGTCCAGCTGTGGGAGCACT TCCAGAGCCTGCTGTGGACCTACAGCCGCCTGCGGGAGCAGGAGCAGTGCTTCGCCGTGGAGGTGACTACTGGGCGCGGGAGTCCTCAGGACTTGAAGCT GTCAGGCCCTGGAGCGACTGATTCACCCCCAGCTCTGTGAGCTGTGCATAGAGGCGCTGGAGCGGCACGTCATCCAGGCTGTCAACACCAGCCCCGAGCG GGGAGGCGAGGAGGCCCTGCATGCCTTCCTGCTCGTGCACTCCAAGCTGCTGGCATTCTACTCTAGCCACAGTGCCAGCTCCCTGCGCCCGGCCGACCTG CTTGCCCTCATCCTCCTGGTTCAGGACCTCTACCCCAGCGAGAGCACAGCAGAGGACGACATTCAGGAGACAGACAGCTTCTCCCTCCCTGAGGAGTACT TCACACCAGCTCCTTCCCCTGGCGATCAGAGCTCAGGTAGCACCATCTGGCTGGAGGGGGGCACCCCCCCCATGGATGCCCTTCAGATAGCAGAGGACAC CCTCCAAACACTGGTTCCCCACTGCCCTGTGCCTTCCGGCCCCAGAAGGATCTTCCTGGATGCCAACGTGAAGGAAAGCTACTGCCCCCTAGTGCCCCAC ACCATGTACTGCCTGCCCCTGTGGCAGGGCATCAACCTGGTGCTCCTGACCAGGAGCCCCAGCGCGCCCCTGGCCCTGGTTCTGTCCCAGCTGATGGATG GCTTCTCCATGCTGGAGAAGAAGCTGAAGGAAGGGCCGGAGCCCGGGGCCTCCCTGCGCTCCCAGCCCCTCGTGGGAGACCTGCGCCAGAGGATGGACAA GTTTGTCAAGAATCGAGGGGCACAGGAGATTCAGAGCACCTGGCTGGAGTTTAAGGCCAAGGCTTTCTCCAAAAGTGAGCCCGGATCCTCCTGGGAGCTG CTCCAGGCATGTGGGAAGCTGAAGCGGCAGCTCTGCGCCATCTACCGGCTGAACTTTCTGACCACAGCCCCCAGCAGGGGAGGCCCACACCTGCCCCAGC ACCTGCAGGACCAAGTGCAGAGGCTCATGCGGGAGAAGCTGACGGACTGGAAGGACTTCTTGCTGGTGAAGAGCAGGAGGAACATCACCATGGTGTCCTA CCTAGAAGACTTCCCAGGCTTGGTGCACTTCATCTATGTGGACCGCACCACTGGGCAGATGGTGGCGCCTTCCCTCAACTGCAGTCAAAAGACCTCGTCG GAGTTGGGCAAGGGGCCGCTGGCTGCCTTTGTCAAAACTAAGGTCTGGTCTCTGATCCAGCTGGCGCGCAGATACCTGCAGAAGGGCTACACCACGCTGC TGTTCCAGGAGGGGGATTTCTACTGCTCCTACTTCCTGTGGTTCGAGAATGACATGGGGTACAAACTCCAGATGATCGAGGTGCCCGTCCTCTCCGACGA CTCAGTGCCTATCGGCATGCTGGGAGGAGACTACTACAGGAAGCTCCTGCGCTACTACAGCAAGAACCGCCCAACCGAGGCTGTCAGGTGCTACGAGCTG CTGGCCCTGCACCTGTCTGTCATCCCCACTGACCTGCTGGTGCAGCAGGCCGGCCAGCTGGCCCGGCGCCTCTGGGAGGCCTCCCGTATCCCCCTGCTCT AGGCCAAGGTGGCCGCAGTCTGCCTTTGCATCCTGTCCTCCAGCCACCCTTGCTTGCCACTGTTCCCCATGACGAGAGCCTCCTGTCTGCAGTGGCCATC CTGAGGATAGGGCAGAGTGCCCAGGGTGGCCCCAGGGCTTCTAAAACCCCACCTAGACCACCCTCCATGTCAGGTACTGAGCAAGGCCCCAGATCCTTCT CTCTGGAGGAAGAGGGAAGCCCAGGGGTCCTGTTTGTAAAACAACGGTGGCAACAGCTCCTCTTCCAGAGCTGCCTCTGCCTTTATCCTGGGAGATGGGG AGGAAGCCCCATCTCTGCTGTTCCCTGCGTGGAGGAAGCCCACCCAGCAAGCTCTCTCCTACCCCAGGTAAAAGGTGCTCCTTTGCCTGGGTTTGAATTC CAGCGCTGCCACTTCCTCTCTGCACCTCCTGGCAAGTTTCTTCTATTCCCCACGTTTAAAGCGATGGCACCTCCGTCCCAGGGTGGTGTGAGGATTACCC AGTGTGGTAGGTGCTCAATAAATGTTGGTCATTGTTATCACTGAAGCCCAACATGCTAGTGCTTCTAGACCCTTCTGTCAGTGCTGATAAGCCCTTGCTA AGTCCCAGCCCCTTCATGCTTGGCTGGCGTCTGCCCTAGGGCTGGGGTTCTCAAGCCCCTGGCCCTGGCCCAGAGATTTGGATTCCCTTGGCGGCCGTGG AGCCCAGCCTTTGATGTCTTTCAAAGCTTCTGTGGTGCGCCCTGGATTGAGAACCACCACCCGAGGGGTACAGCCCCTCTCTTCCAACCGAGAAGTTCCT GTCCCAGAATGGACCCAGGGACAAGAGACCCTGAGAGCCCTGGGACTGGGAGTGTCTGCTCCTCTGAGGCCAGGAGGCCGGTGCTGGGCCAGAGAGGACG GCGTGGCGAAAGTCAGCGTCCACTGCAGCACAGGATCAGATGGCCGTGTGCTGTGCATGCAGGAGCCTCGCCTTCTGTGTCTTTAGTCTTGAGCCAAAAT TTGCTCAAAGACTGATCTCTTCCTTGCAGGGAACAGCTTTGGGGCTGGGGGAACTAGAACCCACATGTTGGTCTAAACCCTGAGAAGGTGGCAGTGAGGA AGTATCCCCTCAGGTGACTGGATCTGTGTTCCTCCTTAACATCATCTGATGGAATGGCAATGAAAAGCGTGGATTGTGGAAAATACAGAAAAACATAAAG GAAAAAACTCCAATCCCCTGAGCCCACCACTGTTCAGGACCCCTGCTTTTGTCACCTACTATTTCCCTTTAGTTTTTAGCAGCGGCTGGATGTGATATGT CTAGTTTAACCAGTCCCCTTGATCTTTCTATATAATAAATAACACAGGAGTGAACATCCTGAATCAG

refseq_HPS1.F4 (forward primer)
refseq_HPS1.R4 (reverse primer)
Single exon skipping

Frame 0

GPTRKRARAPAGGALCAPRSGTWASGLSPLGAA ILPPEPPFNPPGSEHLQDQGCCAALP*ASHRVGL LQPFLNLWPSGCSTVLAKMKCVLVATEGAEVLF YWTDQEFEESLRLKFGQSENEEEELPALEDQLS TLLAPVIISSMTMLEKLSDTYTCFSTENGNFLYV LHLFGECLFIAINGDHTESEGDLRRKLYVLKYL FEVHFGLVTVDGHLIRKELRPPDLAQRVQLWEH FQSLLWTYSRLREQEQCFAVEVTTGRGSPQDLKL SGPGATDSPPAL*AVHRGAGAARHPGCQHQPRA GRRGGPACLPARALQAAGILL*PQCQLPAPGRP ACPHPPGSGPLPQREHSRGRHSGDRQLLPP*GVL HTSSFPWRSELR*HHLAGGGHPPHGCPSDSRGH PPNTGSPLPCAFRPQKDLPGCQREGKLLPPSAP HHVLPAPVAGHQPGAPDQEPQRAPGPGSVPADGW LLHAGEEAEGRAGARGLPALPAPRGRPAPEDGQ VCQESRGTGDSEHLAGV*GQGFLQK*ARILLGA APGMWEAEAAALRHLPAELSDHSPQQGRPTPAPA PAGPSAEAHAGEADGLEGLLAGEEQEEHHHGVL PRRLPRLGALHLCGPHHWADGGAFPQLQSKDLV GVGQGAAGCLCQN*GLVSDPAGAQIPAEGLHHAA VPGGGFLLLLLPVVRE*HGVQTPDDRGARPLRR LSAYRHAGRRLLQEAPALLQQEPPNRGCQVLRA AGPAPVCHPH*PAGAAGRPAGPAPLGGLPYPPAL GQGGRSLPLHPVLQPPLLATVPHDESLLSAVAI LRIGQSAQGGPRASKTPPRPPSMSGTEQGPRSF SLEEEGSPGVLFVKQRWQQLLFQSCLCLYPGRWG GSPISAVPCVEEAHPASSLLPQVKGAPLPGFEF QRCHFLSAPPGKFLLFPTFKAMAPPSQGGVRIT QCGRCSINVGHCYH*SPTC*CF*TLLSVLISPC* VPAPSCLAGVCPRAGVLKPLALAQRFGFPWRPW SPAFDVFQSFCGAPWIENHHPRGTAPLFQPRSS CPRMDPGTRDPESPGTGSVCSSEARRPVLGQRGR RGESQRPLQHRIRWPCAVHAGASPSVSLVLSQN LLKD*SLPCREQLWGWGN*NPHVGLNPEKVAVR KYPLR*LDLCSSLTSSDGMAMKSVDCGKYRKT*R KKLQSPEPTTVQDPCFCHLLFPFSF*QRLDVIC LV*PVPLIFLYNK*HRSEHPES

Frame 1

VLPGSAPGLLQAGRCARRDPVRGPPGCPLWGRR SSLRSPPSTLPEVSICRTRDAVLLSHEPVTESV CCSPF*TSGRLDAPLCLPR*SASWWPLRAQRSSS TGQIRSLKRVSG*SSGSQRMRKKSSLPWRTSSA PS*PRSSSPP*RCWRSSRTPTPASPRKMATSCM SFTCLENACSLPSMVTTPRARGTCGGSCMCSSTC LKCTLGW*LWTVILSERSCGPQTWRSVSSCGST SRACCGPTAACGSRSSASPWR*LLGAGVLRT*S CQALERLIHPQLCELCIEALERHVIQAVNTSPER GGEEALHAFLLVHSKLLAFYSSHSASSLRPADL LALILLVQDLYPSESTAEDDIQETDSFSLPEEY FTPAPSPGDQSSGSTIWLEGGTPPMDALQIAEDT LQTLVPHCPVPSGPRRIFLDANVKESYCPLVPH TMYCLPLWQGINLVLLTRSPSAPLALVLSQLMD GFSMLEKKLKEGPEPGASLRSQPLVGDLRQRMDK FVKNRGAQEIQSTWLEFKAKAFSKSEPGSSWEL LQACGKLKRQLCAIYRLNFLTTAPSRGGPHLPQ HLQDQVQRLMREKLTDWKDFLLVKSRRNITMVSY LEDFPGLVHFIYVDRTTGQMVAPSLNCSQKTSS ELGKGPLAAFVKTKVWSLIQLARRYLQKGYTTL LFQEGDFYCSYFLWFENDMGYKLQMIEVPVLSDD SVPIGMLGGDYYRKLLRYYSKNRPTEAVRCYEL LALHLSVIPTDLLVQQAGQLARRLWEASRIPLL *AKVAAVCLCILSSSHPCLPLFPMTRASCLQWPS *G*GRVPRVAPGLLKPHLDHPPCQVLSKAPDPS LWRKREAQGSCL*NNGGNSSSSRAASAFILGDG EEAPSLLFPAWRKPTQQALSYPR*KVLLCLGLNS SAATSSLHLLASFFYSPRLKRWHLRPRVV*GLP SVVGAQ*MLVIVITEAQHASASRPFCQC**ALA KSQPLHAWLASALGLGFSSPWPWPRDLDSLGGRG AQPLMSFKASVVRPGLRTTTRGVQPLSSNREVP VPEWTQGQETLRALGLGVSAPLRPGGRCWARED GVAKVSVHCSTGSDGRVLCMQEPRLLCL*S*AKI CSKTDLFLAGNSFGAGGTRTHMLV*TLRRWQ*G SIPSGDWICVPP*HHLMEWQ*KAWIVENTEKHK GKNSNPLSPPLFRTPAFVTYYFPLVFSSGWM*YV *FNQSP*SFYIINNTGVNILNQ

Frame 2

SYPEARPGSCRRGAVRAAIRYVGLRAVPSGGGD PPSGAPLQPSRK*AFAGPGMLCCSPMSQSPSRS AAALSEPLAVWMLHCACQDEVRLGGH*GRRGPL LLDRSGV*RESPAEVRAVRE*GRRAPCPGGPAQH PPSPGHHLLHDDAGEALGHLHLLLHGKWQLPVC PSPVWRMPVHCHQW*PHRERGGPAAEAVCAQVP V*SALWAGDCGRSSYPKGAAAPRPGAACPAVGAL PEPAVDLQPPAGAGAVLRRGGDYWARESSGLEA VRPWSD*FTPSSVSCA*RRWSGTSSRLSTPAPS GEARRPCMPSCSCTPSCWHSTLATVPAPCARPTC LPSSSWFRTSTPARAQQRTTFRRQTASPSLRST SHQLLPLAIRAQVAPSGWRGAPPPWMPFR*QRT PSKHWFPTALCLPAPEGSSWMPT*RKATAP*CPT PCTACPCGRASTWCS*PGAPARPWPWFCPS*WM ASPCWRRS*RKGRSPGPPCAPSPSWETCARGWT SLSRIEGHRRFRAPGWSLRPRLSPKVSPDPPGSC SRHVGS*SGSSAPSTG*TF*PQPPAGEAHTCPS TCRTKCRGSCGRS*RTGRTSCW*RAGGTSPWCP T*KTSQAWCTSSMWTAPLGRWWRLPSTAVKRPRR SWARGRWLPLSKLRSGL*SSWRADTCRRATPRC CSRRGISTAPTSCGSRMTWGTNSR*SRCPSSPT TQCLSACWEETTTGSSCATTARTAQPRLSGATSC WPCTCLSSPLTCWCSRPASWPGASGRPPVSPCS RPRWPQSAFASCPPATLACHCSP*REPPVCSGH PEDRAECPGWPQGF*NPT*TTLHVRY*ARPQILL SGGRGKPRGPVCKTTVATAPLPELPLPLSWEMG RKPHLCCSLRGGSPPSKLSPTPGKRCSFAWV*I PALPLPLCTSWQVSSIPHV*SDGTSVPGWCEDYP VW*VLNKCWSLLSLKPNMLVLLDPSVSADKPLL SPSPFMLGWRLP*GWGSQAPGPGPEIWIPLAAV EPSL*CLSKLLWCALD*EPPPEGYSPSLPTEKFL SQNGPRDKRP*EPWDWECLLL*GQEAGAGPERT AWRKSASTAAQDQMAVCCACRSLAFCVFSLEPK FAQRLISSLQGTALGLGELEPTCWSKP*EGGSEE VSPQVTGSVFLLNII*WNGNEKRGLWKIQKNIK EKTPIP*AHHCSGPLLLSPTISL*FLAAAGCDM SSLTSPLDLSI**ITQE*TS*I

Sequence NM_000195

GGTCCTACCCGGAAGCGCGCCCGGGCTCCTGCAGGCGGGGCGCTGTGCGCGCCGCGATCCGGTACGTGGGCCTCCGGGCTGTCCCCTCTGGGGGCGGCGA TCCTCCCTCCGGAGCCCCCCTTCAACCCTCCCGGAAGTGAGGACCAGGGATGCTGTGCTGCTCTCCCATGAGCCAGTCACCGAGTCGGTCTGCTGCAGCC CTTTCTGAACCTCTGGCCGTCTGGATGCTCCACTGTGCTTGCCAAGATGAAGTGCGTCTTGGTGGCCACTGAGGGCGCAGAGGTCCTCTTCTACTGGACA GATCAGGAGTTTGAAGAGAGTCTCCGGCTGAAGTTCGGGCAGTCAGAGAATGAGGAAGAAGAGCTCCCTGCCCTGGAGGACCAGCTCAGCACCCTCCTAG CCCCGGTCATCATCTCCTCCATGACGATGCTGGAGAAGCTCTCGGACACCTACACCTGCTTCTCCACGGAAAATGGCAACTTCCTGTATGTCCTTCACCT GTTTGGAGAATGCCTGTTCATTGCCATCAATGGTGACCACACCGAGAGCGAGGGGGACCTGCGGCGGAAGCTGTATGTGCTCAAGTACCTGTTTGAAGTG CACTTTGGGCTGGTGACTGTGGACGGTCATCTTATCCGAAAGGAGCTGCGGCCCCCAGACCTGGCGCAGCGTGTCCAGCTGTGGGAGCACTTCCAGAGCC TGCTGTGGACCTACAGCCGCCTGCGGGAGCAGGAGCAGTGCTTCGCCGTGGAGGCCCTGGAGCGACTGATTCACCCCCAGCTCTGTGAGCTGTGCATAGA GGCGCTGGAGCGGCACGTCATCCAGGCTGTCAACACCAGCCCCGAGCGGGGAGGCGAGGAGGCCCTGCATGCCTTCCTGCTCGTGCACTCCAAGCTGCTG GCATTCTACTCTAGCCACAGTGCCAGCTCCCTGCGCCCGGCCGACCTGCTTGCCCTCATCCTCCTGGTTCAGGACCTCTACCCCAGCGAGAGCACAGCAG AGGACGACATTCAGCCTTCCCCGCGGAGGGCCCGGAGCAGCCAGAACATCCCCGTGCAGCAGGCCTGGAGCCCTCACTCCACGGGCCCAACTGGGGGGAG CTCTGCAGAGACGGAGACAGACAGCTTCTCCCTCCCTGAGGAGTACTTCACACCAGCTCCTTCCCCTGGCGATCAGAGCTCAGGTAGCACCATCTGGCTG GAGGGGGGCACCCCCCCCATGGATGCCCTTCAGATAGCAGAGGACACCCTCCAAACACTGGTTCCCCACTGCCCTGTGCCTTCCGGCCCCAGAAGGATCT TCCTGGATGCCAACGTGAAGGAAAGCTACTGCCCCCTAGTGCCCCACACCATGTACTGCCTGCCCCTGTGGCAGGGCATCAACCTGGTGCTCCTGACCAG GAGCCCCAGCGCGCCCCTGGCCCTGGTTCTGTCCCAGCTGATGGATGGCTTCTCCATGCTGGAGAAGAAGCTGAAGGAAGGGCCGGAGCCCGGGGCCTCC CTGCGCTCCCAGCCCCTCGTGGGAGACCTGCGCCAGAGGATGGACAAGTTTGTCAAGAATCGAGGGGCACAGGAGATTCAGAGCACCTGGCTGGAGTTTA AGGCCAAGGCTTTCTCCAAAAGTGAGCCCGGATCCTCCTGGGAGCTGCTCCAGGCATGTGGGAAGCTGAAGCGGCAGCTCTGCGCCATCTACCGGCTGAA CTTTCTGACCACAGCCCCCAGCAGGGGAGGCCCACACCTGCCCCAGCACCTGCAGGACCAAGTGCAGAGGCTCATGCGGGAGAAGCTGACGGACTGGAAG GACTTCTTGCTGGTGAAGAGCAGGAGGAACATCACCATGGTGTCCTACCTAGAAGACTTCCCAGGCTTGGTGCACTTCATCTATGTGGACCGCACCACTG GGCAGATGGTGGCGCCTTCCCTCAACTGCAGTCAAAAGACCTCGTCGGAGTTGGGCAAGGGGCCGCTGGCTGCCTTTGTCAAAACTAAGGTCTGGTCTCT GATCCAGCTGGCGCGCAGATACCTGCAGAAGGGCTACACCACGCTGCTGTTCCAGGAGGGGGATTTCTACTGCTCCTACTTCCTGTGGTTCGAGAATGAC ATGGGGTACAAACTCCAGATGATCGAGGTGCCCGTCCTCTCCGACGACTCAGTGCCTATCGGCATGCTGGGAGGAGACTACTACAGGAAGCTCCTGCGCT ACTACAGCAAGAACCGCCCAACCGAGGCTGTCAGGTGCTACGAGCTGCTGGCCCTGCACCTGTCTGTCATCCCCACTGACCTGCTGGTGCAGCAGGCCGG CCAGCTGGCCCGGCGCCTCTGGGAGGCCTCCCGTATCCCCCTGCTCTAGGCCAAGGTGGCCGCAGTCTGCCTTTGCATCCTGTCCTCCAGCCACCCTTGC TTGCCACTGTTCCCCATGACGAGAGCCTCCTGTCTGCAGTGGCCATCCTGAGGATAGGGCAGAGTGCCCAGGGTGGCCCCAGGGCTTCTAAAACCCCACC TAGACCACCCTCCATGTCAGGTACTGAGCAAGGCCCCAGATCCTTCTCTCTGGAGGAAGAGGGAAGCCCAGGGGTCCTGTTTGTAAAACAACGGTGGCAA CAGCTCCTCTTCCAGAGCTGCCTCTGCCTTTATCCTGGGAGATGGGGAGGAAGCCCCATCTCTGCTGTTCCCTGCGTGGAGGAAGCCCACCCAGCAAGCT CTCTCCTACCCCAGGTAAAAGGTGCTCCTTTGCCTGGGTTTGAATTCCAGCGCTGCCACTTCCTCTCTGCACCTCCTGGCAAGTTTCTTCTATTCCCCAC GTTTAAAGCGATGGCACCTCCGTCCCAGGGTGGTGTGAGGATTACCCAGTGTGGTAGGTGCTCAATAAATGTTGGTCATTGTTATCACTGAAGCCCAACA TGCTAGTGCTTCTAGACCCTTCTGTCAGTGCTGATAAGCCCTTGCTAAGTCCCAGCCCCTTCATGCTTGGCTGGCGTCTGCCCTAGGGCTGGGGTTCTCA AGCCCCTGGCCCTGGCCCAGAGATTTGGATTCCCTTGGCGGCCGTGGAGCCCAGCCTTTGATGTCTTTCAAAGCTTCTGTGGTGCGCCCTGGATTGAGAA CCACCACCCGAGGGGTACAGCCCCTCTCTTCCAACCGAGAAGTTCCTGTCCCAGAATGGACCCAGGGACAAGAGACCCTGAGAGCCCTGGGACTGGGAGT GTCTGCTCCTCTGAGGCCAGGAGGCCGGTGCTGGGCCAGAGAGGACGGCGTGGCGAAAGTCAGCGTCCACTGCAGCACAGGATCAGATGGCCGTGTGCTG TGCATGCAGGAGCCTCGCCTTCTGTGTCTTTAGTCTTGAGCCAAAATTTGCTCAAAGACTGATCTCTTCCTTGCAGGGAACAGCTTTGGGGCTGGGGGAA CTAGAACCCACATGTTGGTCTAAACCCTGAGAAGGTGGCAGTGAGGAAGTATCCCCTCAGGTGACTGGATCTGTGTTCCTCCTTAACATCATCTGATGGA ATGGCAATGAAAAGCGTGGATTGTGGAAAATACAGAAAAACATAAAGGAAAAAACTCCAATCCCCTGAGCCCACCACTGTTCAGGACCCCTGCTTTTGTC ACCTACTATTTCCCTTTAGTTTTTAGCAGCGGCTGGATGTGATATGTCTAGTTTAACCAGTCCCCTTGATCTTTCTATATAATAAATAACACAGGAGTGA ACATCCTGAATCAG

refseq_HPS1.F4 (forward primer)
refseq_HPS1.R4 (reverse primer)
Single exon skipping

Frame 0

GPTRKRARAPAGGALCAPRSGTWASGLSPLGAA ILPPEPPFNPPGSEDQGCCAALP*ASHRVGLLQP FLNLWPSGCSTVLAKMKCVLVATEGAEVLFYWT DQEFEESLRLKFGQSENEEEELPALEDQLSTLL APVIISSMTMLEKLSDTYTCFSTENGNFLYVLHL FGECLFIAINGDHTESEGDLRRKLYVLKYLFEV HFGLVTVDGHLIRKELRPPDLAQRVQLWEHFQS LLWTYSRLREQEQCFAVEALERLIHPQLCELCIE ALERHVIQAVNTSPERGGEEALHAFLLVHSKLL AFYSSHSASSLRPADLLALILLVQDLYPSESTA EDDIQPSPRRARSSQNIPVQQAWSPHSTGPTGGS SAETETDSFSLPEEYFTPAPSPGDQSSGSTIWL EGGTPPMDALQIAEDTLQTLVPHCPVPSGPRRI FLDANVKESYCPLVPHTMYCLPLWQGINLVLLTR SPSAPLALVLSQLMDGFSMLEKKLKEGPEPGAS LRSQPLVGDLRQRMDKFVKNRGAQEIQSTWLEF KAKAFSKSEPGSSWELLQACGKLKRQLCAIYRLN FLTTAPSRGGPHLPQHLQDQVQRLMREKLTDWK DFLLVKSRRNITMVSYLEDFPGLVHFIYVDRTT GQMVAPSLNCSQKTSSELGKGPLAAFVKTKVWSL IQLARRYLQKGYTTLLFQEGDFYCSYFLWFEND MGYKLQMIEVPVLSDDSVPIGMLGGDYYRKLLR YYSKNRPTEAVRCYELLALHLSVIPTDLLVQQAG QLARRLWEASRIPLL*AKVAAVCLCILSSSHPC LPLFPMTRASCLQWPS*G*GRVPRVAPGLLKPH LDHPPCQVLSKAPDPSLWRKREAQGSCL*NNGGN SSSSRAASAFILGDGEEAPSLLFPAWRKPTQQA LSYPR*KVLLCLGLNSSAATSSLHLLASFFYSP RLKRWHLRPRVV*GLPSVVGAQ*MLVIVITEAQH ASASRPFCQC**ALAKSQPLHAWLASALGLGFS SPWPWPRDLDSLGGRGAQPLMSFKASVVRPGLR TTTRGVQPLSSNREVPVPEWTQGQETLRALGLGV SAPLRPGGRCWAREDGVAKVSVHCSTGSDGRVL CMQEPRLLCL*S*AKICSKTDLFLAGNSFGAGG TRTHMLV*TLRRWQ*GSIPSGDWICVPP*HHLME WQ*KAWIVENTEKHKGKNSNPLSPPLFRTPAFV TYYFPLVFSSGWM*YV*FNQSP*SFYIINNTGV NILNQ

Frame 1

VLPGSAPGLLQAGRCARRDPVRGPPGCPLWGRR SSLRSPPSTLPEVRTRDAVLLSHEPVTESVCCS PF*TSGRLDAPLCLPR*SASWWPLRAQRSSSTGQ IRSLKRVSG*SSGSQRMRKKSSLPWRTSSAPS* PRSSSPP*RCWRSSRTPTPASPRKMATSCMSFT CLENACSLPSMVTTPRARGTCGGSCMCSSTCLKC TLGW*LWTVILSERSCGPQTWRSVSSCGSTSRA CCGPTAACGSRSSASPWRPWSD*FTPSSVSCA* RRWSGTSSRLSTPAPSGEARRPCMPSCSCTPSCW HSTLATVPAPCARPTCLPSSSWFRTSTPARAQQ RTTFSLPRGGPGAARTSPCSRPGALTPRAQLGG ALQRRRQTASPSLRSTSHQLLPLAIRAQVAPSGW RGAPPPWMPFR*QRTPSKHWFPTALCLPAPEGS SWMPT*RKATAP*CPTPCTACPCGRASTWCS*P GAPARPWPWFCPS*WMASPCWRRS*RKGRSPGPP CAPSPSWETCARGWTSLSRIEGHRRFRAPGWSL RPRLSPKVSPDPPGSCSRHVGS*SGSSAPSTG* TF*PQPPAGEAHTCPSTCRTKCRGSCGRS*RTGR TSCW*RAGGTSPWCPT*KTSQAWCTSSMWTAPL GRWWRLPSTAVKRPRRSWARGRWLPLSKLRSGL *SSWRADTCRRATPRCCSRRGISTAPTSCGSRMT WGTNSR*SRCPSSPTTQCLSACWEETTTGSSCA TTARTAQPRLSGATSCWPCTCLSSPLTCWCSRP ASWPGASGRPPVSPCSRPRWPQSAFASCPPATLA CHCSP*REPPVCSGHPEDRAECPGWPQGF*NPT *TTLHVRY*ARPQILLSGGRGKPRGPVCKTTVA TAPLPELPLPLSWEMGRKPHLCCSLRGGSPPSKL SPTPGKRCSFAWV*IPALPLPLCTSWQVSSIPH V*SDGTSVPGWCEDYPVW*VLNKCWSLLSLKPN MLVLLDPSVSADKPLLSPSPFMLGWRLP*GWGSQ APGPGPEIWIPLAAVEPSL*CLSKLLWCALD*E PPPEGYSPSLPTEKFLSQNGPRDKRP*EPWDWE CLLL*GQEAGAGPERTAWRKSASTAAQDQMAVCC ACRSLAFCVFSLEPKFAQRLISSLQGTALGLGE LEPTCWSKP*EGGSEEVSPQVTGSVFLLNII*W NGNEKRGLWKIQKNIKEKTPIP*AHHCSGPLLLS PTISL*FLAAAGCDMSSLTSPLDLSI**ITQE* TS*I

Frame 2

SYPEARPGSCRRGAVRAAIRYVGLRAVPSGGGD PPSGAPLQPSRK*GPGMLCCSPMSQSPSRSAAA LSEPLAVWMLHCACQDEVRLGGH*GRRGPLLLD RSGV*RESPAEVRAVRE*GRRAPCPGGPAQHPPS PGHHLLHDDAGEALGHLHLLLHGKWQLPVCPSP VWRMPVHCHQW*PHRERGGPAAEAVCAQVPV*S ALWAGDCGRSSYPKGAAAPRPGAACPAVGALPEP AVDLQPPAGAGAVLRRGGPGATDSPPAL*AVHR GAGAARHPGCQHQPRAGRRGGPACLPARALQAA GILL*PQCQLPAPGRPACPHPPGSGPLPQREHSR GRHSAFPAEGPEQPEHPRAAGLEPSLHGPNWGE LCRDGDRQLLPP*GVLHTSSFPWRSELR*HHLA GGGHPPHGCPSDSRGHPPNTGSPLPCAFRPQKDL PGCQREGKLLPPSAPHHVLPAPVAGHQPGAPDQ EPQRAPGPGSVPADGWLLHAGEEAEGRAGARGL PALPAPRGRPAPEDGQVCQESRGTGDSEHLAGV* GQGFLQK*ARILLGAAPGMWEAEAAALRHLPAE LSDHSPQQGRPTPAPAPAGPSAEAHAGEADGLE GLLAGEEQEEHHHGVLPRRLPRLGALHLCGPHHW ADGGAFPQLQSKDLVGVGQGAAGCLCQN*GLVS DPAGAQIPAEGLHHAAVPGGGFLLLLLPVVRE* HGVQTPDDRGARPLRRLSAYRHAGRRLLQEAPAL LQQEPPNRGCQVLRAAGPAPVCHPH*PAGAAGR PAGPAPLGGLPYPPALGQGGRSLPLHPVLQPPL LATVPHDESLLSAVAILRIGQSAQGGPRASKTPP RPPSMSGTEQGPRSFSLEEEGSPGVLFVKQRWQ QLLFQSCLCLYPGRWGGSPISAVPCVEEAHPAS SLLPQVKGAPLPGFEFQRCHFLSAPPGKFLLFPT FKAMAPPSQGGVRITQCGRCSINVGHCYH*SPT C*CF*TLLSVLISPC*VPAPSCLAGVCPRAGVL KPLALAQRFGFPWRPWSPAFDVFQSFCGAPWIEN HHPRGTAPLFQPRSSCPRMDPGTRDPESPGTGS VCSSEARRPVLGQRGRRGESQRPLQHRIRWPCA VHAGASPSVSLVLSQNLLKD*SLPCREQLWGWGN *NPHVGLNPEKVAVRKYPLR*LDLCSSLTSSDG MAMKSVDCGKYRKT*RKKLQSPEPTTVQDPCFC HLLFPFSF*QRLDVICLV*PVPLIFLYNK*HRSE HPES

Sequence NM_182638

Frame 0

Frame 1

Frame 2

Sequence NM_182637

Frame 0

Frame 1

Frame 2

Sequence NM_000195

Frame 0

Frame 1

Frame 2

Sequence NM_182639

Frame 0

Frame 1

Frame 2