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Sequences

Sequence NM_001024463

GGACTCAAGAGTAGCCTTCCTCGAGGACCTGCCTTTCCCATTTGCTGCCTGAAGTTAATGTTTCTTGCTGGCCAAATCAGGGACATGCCGGCATTAGCGG GATGAGTGGGTGTTCCGGCAGGGATGTGGTCATTGACGGCCAGTGAGGGCGAGAGTACCACGGCCCACTTCTTCCTTGGAGCTGGAGATGAGGGGCTGGG CACCCGTGGAATAGGCATGAGGCCAGAAGAGAGTGACAGCGAGCTCCTTGAGGATGAGGAGGATGAAGTGCCTCCTGAACCTCAGATCATTGTTGGCATC TGTGCCATGACCAAGAAATCCAAGTCCAAGCCAATGACTCAAATCCTAGAGCGACTCTGCAGATTTGACTACCTGACTGTTGTCATTCTGGGAGAAGATG TAATCCTTAATGAACCTGTGGAAAACTGGCCATCCTGCCACTGCCTCATCTCTTTCCACTCCAAAGGCTTTCCTCTGGACAAAGCTGTTGCTTACTCCAA GCTTCGAAACCCCTTTCTTATCAATGATCTGGCCATGCAGTATTACATCCAAGATAGGAGGGAGGTGTACCGGATCCTGCAGGAAGAGGGTATTGATCTG CCTCGATATGCTGTGCTCAACCGTGATCCTGCCCGGCCTGAGGAATGCAACCTGATAGAAGGTGAAGACCAAGTAGAGGTCAATGGAGCTGTCTTTCCCA AGCCCTTTGTGGAGAAGCCAGTGAGTGCAGAAGACCACAATGTTTACATCTACTACCCCAGCTCAGCTGGAGGAGGAAGCCAGCGTCTCTTTCGTAAGAT TGGCAGCCGAAGCAGTGTTTACTCTCCTGAGAGCAGCGTCCGAAAGACGGGGTCGTACATCTATGAGGAGTTTATGCCAACAGATGGCACAGATGTCAAG GTGTATACAGTGGGGCCAGATTATGCCCATGCTGAAGCTAGAAAATCTCCAGCTTTGGATGGGAAGGTTGAACGAGACAGTGAGGGGAAAGAGATTCGAT ATCCAGTCATGCTGACTGCCATGGAAAAGCTGGTGGCCAGGAAAGTCTGCGTAGCTTTCAAGCAAACAGTTTGTGGATTTGACCTTCTTCGTGCCAATGG TCATTCCTTTGTGTGTGATGTCAATGGCTTTAGTTTTGTCAAGAACTCGATGAAATACTACGATGACTGTGCCAAGATTCTGGGGAACACCATAATGCGG GAGCTTGCCCCACAGTTCCAGATTCCATGGTCCATCCCCACGGAGGCTGAGGACATTCCCATTGTTCCCACCACATCTGGCACTATGATGGAACTTCGTT GTGTCATTGCAATTATTCGTCATGGGGATCGTACTCCCAAGCAGAAGATGAAGATGGAAGTGAAACACCCAAGGTTTTTTGCTCTGTTTGAAAAACATGG TGGCTACAAGACAGGGAAATTAAAACTCAAGCGACCTGAGCAGCTCCAGGAGGTGCTGGATATCACAAGGCTGTTGTTGGCTGAACTGGAGAAAGAACCA GGTGGTGAGATCGAGGAGAAGACTGGAAAACTAGAGCAGCTGAAGTCTGTACTGGAGATGTATGGTCACTTCTCAGGTATAAACCGGAAGGTACAATTGA CTTACTACCCTCATGGAGTAAAAGCTTCTAATGAGGGGCAAGATCCACAGAGGGAAACTCTGGCCCCATCTCTGTTGCTGGTACTGAAGTGGGGTGGAGA ACTGACTCCTGCTGGCCGTGTTCAGGCTGAGGAGCTGGGGCGAGCTTTTCGCTGCATGTACCCTGGAGGACAGGGTGACTATGCTGGCTTCCCTGGTTGT GGGCTGCTTCGTCTCCATAGCACTTTCCGCCACGATCTCAAGATCTATGCCTCTGATGAGGGTCGTGTTCAGATGACTGCTGCTGCCTTCGCCAAGGGCC TTCTGGCTCTAGAAGGGGAGCTGACACCCATTTTGGTGCAAATGGTGAAGAGTGCCAACATGAATGGGCTACTGGACAGCGATGGGGATTCCTTGAGCAG CTGCCAGCACCGGGTGAAGGCTCGGCTGCACCATATTCTACAGCAGGATGCGCCCTTTGGCCCTGAGGACTACGATCAGCTGGCTCCCACCAGAAGTACT TCCCTGCTCAACTCCATGACTATCATCCAGAATCCTGTGAAGGTCTGTGATCAGGTATTTGCCCTGATCGAAAACCTCACCCACCAGATCCGGGAACGAA TGCAGGACCCCAGGTCTGTAGACCTGCAGCTCTACCACAGTGAGACACTAGAGCTAATGCTACAGCGTTGGAGCAAGCTGGAGCGTGACTTTCGACAGAA GAGTGGGCGCTATGATATCAGTAAGATCCCTGACATCTATGACTGTGTCAAGTATGATGTGCAGCACAATGGGAGTCTGGGACTTCAAGGCACAGCAGAG TTGCTCCGTCTCTCTAAGGCACTGGCTGATGTGGTCATTCCCCAGGAGTACGGGATCAGTCGGGAGGAGAAACTGGAAATTGCTGTGGGCTTCTGTCTTC CACTGTTGCGGAAGATACTACTTGACCTGCAGAGAACCCACGAGGATGAGTACTCCCGAGGCGTGCTCTCCCCAGGTCGCCACGTTCGAACGCGTCTCTA TTTCACCAGTGAGAGCCATGTCCACTCCCTGCTCAGTGTCTTCCGTTATGGAGGACTTCTTGATGAGACCCAGGATGCAGACCGGGCATTGCAGACTTCA CCCCAGCCTCCTGAGGGCCCTGGCCTTCCGAGGAGATCACCCCTCATTCGTAACCGAAAAGCTGGTTCCATGGAGGTACTTTCTGAGACTTCATCCTCGA GGCCTGGTGGCTACCGGCTCTTTTCATCTTCACGGCCACCCACAGAAATGAAGCAGAGTGGCCTAGGCTCACAGTGCACAGGGCTGTTCAGCACCACAGT GCTGGGTGGCTCCTCCAGTGCCCCGAATCTTCAGGACTACGCCCGCAGCCATGGCAAAAAGCTACCACCTGCCAGTCTGAAGCACCGAGATGAGCTCTTG TTTGTCCCGGCCGTAAAACGATTTTCTGTGTCGTTTGCAAAGCATCCGACTAACGGGTTTGAAGGGTGTTCCATGGTGCCTACCATCTACCCTCTGGAAA CACTGCATAATGCCCTTTCCCTACGTCAAGTGCCACCTATGGAAACCAGCCAGCCATACGAGGAGGTCAGCCAGCCATGTCAGGAGGTCCCTGACATCAG CCAGCCATGCCAGGACATTTCTGAGGCGCTCAGCCAGCCATGTCAGAAGGTCCCTGACATCAGCCAGCAATGCCAGGAGAACCATGACAATGGTAACCAC ACATGCCAGGAGGTCCCTCACATCAGCCAGCCATGCCAGAAGTCCAGCCAACTGTGCCAGAAAGTCTCTGAGGAAGTTTGCCAGCTATGTCTGGAGAACT CCGAGGAGGTCAGCCAGCCATGCCAGGGGGTCTCTGTGGAGGTTGGCAAGCTGGTCCATAAGTTCCATGTAGGGGTTGGTAGCTTGGTCCAGGAAACCCT TGTAGAAGTTGGCAGCCCAGCTGAAGAGATCCCTGAGGAGGTCATCCAGCCATACCAGGAGTTCTCTGTGGAGGTTGGCAGGCTGGCCCAGGAGACTTCT GCGATCAATCTGTTATCTCAGGGCATCCCTGAGATTGATAAACCATCCCAAGAGTTCCCTGAGGAGATTGATCTGCAGGCCCAGGAGGTCCCTGAGGAGA TAAATTAGAAGTCCTGGGTGGTCCCTGAAGTGATTGATCAGCTGCCTGGAGAGGGTATTCCTCAAGCCCAGCATCCATCTGGTGATCCAAACCCTCAGAG CCAGTCTCTAGCCCATGACCAGCACTCACCCCTTCCACCAGCAACATGTGATTAATTTTCTCATTAGTGGTATCACACTATACCAGCCATTTGAGCCAGC AACCTTTTCTGTTGGCTAACTCACTGGCCAGCTCTCACCAGCGGTGTCTGGGGAAGTAGTTCTCTTTGTATGAAGCATACCTGTGCCAGAGCTGTGGTTG AGGAGGAGCCAGTTTTAGGTTCGAAGAAGCCATTGGCTCCTCACTTAGCCATTAGACTTGAATAGGATTTCCTTGGGGTGGGTTGGTCTGTCATTACCCA GCCTTCTCTGAGCATCCTAGGAAATCACAGATTGTTAAAGGAAATGCCGCTTCACTGCTGAAGACACCATCTGGCGACAGCAAATGCAAAAGAGGGGACT CTAGGGTCTTCACTTTTCTGGGGAAATGTTCACGACTTCTCAAGGTACGCTTAGACCATATGTGCATTCAGGGGACTCTTGTCTTTGCCAGCACTCCTCA GGTGAGCCCGGGATGGCTATCTGAAATGTCTGGAAAATAGAGTCCCTTCCCCAAACATCTGACATGGCCACTAAATCTTTAGACTTGCCTTATAGATCCT TCCATATCATCCCCAAGTGCCCCTTCTGCCTCAGTCCTGTTCCTCTGGGCAATAGCTCTAGGGAAAAGTAGGTATTAGACTGCTGTGCAAAATTCAGAGC AACTACTTAAAATGCTCTAGAGGATTCTTAGCCAGTCTGTGAAAGTGGGCCTCCTCTGTGGTGGGGCTGTTTGGCTTAGGAGATGCTGTAGTAGTAGAGA TAATCAGGTTCTATTTTAAGCAATCAGCAGAGATCAATATTGTACAGATACAAGCAAAGGTTTAATAAATATATATATATATATTTATTTCTGTAGTTGT GCCAGGGACAGACTGGCCAAAGACCAAACACTGCAGGGTCCCCAAGAAATTTGTCCTTATATCATTGTGTCTGAGGGCCAGATATGATTATGAAGCTTTT TCCAAAGATCCAGGGATGGGAATGGGAGTGGGTAGGAGGGGTAATGCGGTCATTGGAGTCGGGGGCTGGAACATTATGAGTGCTCAATAAATATAAACTA ATGAGAATGGTGGTGATGGATGA

refseq_HISPPD2A.F1 (forward primer)
refseq_HISPPD2A.R1 (reverse primer)
Exon skipping and alternative donor or acceptor

Frame 0

GLKSSLPRGPAFPICCLKLMFLAGQIRDMPALA G*VGVPAGMWSLTASEGESTTAHFFLGAGDEGLG TRGIGMRPEESDSELLEDEEDEVPPEPQIIVGI CAMTKKSKSKPMTQILERLCRFDYLTVVILGED VILNEPVENWPSCHCLISFHSKGFPLDKAVAYSK LRNPFLINDLAMQYYIQDRREVYRILQEEGIDL PRYAVLNRDPARPEECNLIEGEDQVEVNGAVFP KPFVEKPVSAEDHNVYIYYPSSAGGGSQRLFRKI GSRSSVYSPESSVRKTGSYIYEEFMPTDGTDVK VYTVGPDYAHAEARKSPALDGKVERDSEGKEIR YPVMLTAMEKLVARKVCVAFKQTVCGFDLLRANG HSFVCDVNGFSFVKNSMKYYDDCAKILGNTIMR ELAPQFQIPWSIPTEAEDIPIVPTTSGTMMELR CVIAIIRHGDRTPKQKMKMEVKHPRFFALFEKHG GYKTGKLKLKRPEQLQEVLDITRLLLAELEKEP GGEIEEKTGKLEQLKSVLEMYGHFSGINRKVQL TYYPHGVKASNEGQDPQRETLAPSLLLVLKWGGE LTPAGRVQAEELGRAFRCMYPGGQGDYAGFPGC GLLRLHSTFRHDLKIYASDEGRVQMTAAAFAKG LLALEGELTPILVQMVKSANMNGLLDSDGDSLSS CQHRVKARLHHILQQDAPFGPEDYDQLAPTRST SLLNSMTIIQNPVKVCDQVFALIENLTHQIRER MQDPRSVDLQLYHSETLELMLQRWSKLERDFRQK SGRYDISKIPDIYDCVKYDVQHNGSLGLQGTAE LLRLSKALADVVIPQEYGISREEKLEIAVGFCL PLLRKILLDLQRTHEDEYSRGVLSPGRHVRTRLY FTSESHVHSLLSVFRYGGLLDETQDADRALQTS PQPPEGPGLPRRSPLIRNRKAGSMEVLSETSSS RPGGYRLFSSSRPPTEMKQSGLGSQCTGLFSTTV LGGSSSAPNLQDYARSHGKKLPPASLKHRDELL FVPAVKRFSVSFAKHPTNGFEGCSMVPTIYPLE TLHNALSLRQVPPMETSQPYEEVSQPCQEVPDIS QPCQDISEALSQPCQKVPDISQQCQENHDNGNH TCQEVPHISQPCQKSSQLCQKVSEEVCQLCLEN SEEVSQPCQGVSVEVGKLVHKFHVGVGSLVQETL VEVGSPAEEIPEEVIQPYQEFSVEVGRLAQETS AINLLSQGIPEIDKPSQEFPEEIDLQAQEVPEE IN*KSWVVPEVIDQLPGEGIPQAQHPSGDPNPQS QSLAHDQHSPLPPATCD*FSH*WYHTIPAI*AS NLFCWLTHWPALTSGVWGSSSLCMKHTCARAVV EEEPVLGSKKPLAPHLAIRLE*DFLGVGWSVITQ PSLSILGNHRLLKEMPLHC*RHHLATANAKEGT LGSSLFWGNVHDFSRYA*TICAFRGLLSLPALL R*ARDGYLKCLENRVPSPNI*HGH*IFRLAL*IL PYHPQVPLLPQSCSSGQ*L*GKVGIRLLCKIQS NYLKCSRGFLASL*KWASSVVGLFGLGDAVVVE IIRFYFKQSAEINIVQIQAKV**IYIYIFISVVV PGTDWPKTKHCRVPKKFVLISLCLRARYDYEAF SKDPGMGMGVGRRGNAVIGVGGWNIMSAQ*I*T NENGGDG*

Frame 1

DSRVAFLEDLPFPFAA*S*CFLLAKSGTCRH*R DEWVFRQGCGH*RPVRARVPRPTSSLELEMRGW APVE*A*GQKRVTASSLRMRRMKCLLNLRSLLAS VP*PRNPSPSQ*LKS*SDSADLTT*LLSFWEKM *SLMNLWKTGHPATASSLSTPKAFLWTKLLLTP SFETPFLSMIWPCSITSKIGGRCTGSCRKRVLIC LDMLCSTVILPGLRNAT**KVKTK*RSMELSFP SPLWRSQ*VQKTTMFTSTTPAQLEEEASVSFVR LAAEAVFTLLRAASERRGRTSMRSLCQQMAQMSR CIQWGQIMPMLKLENLQLWMGRLNETVRGKRFD IQSC*LPWKSWWPGKSA*LSSKQFVDLTFFVPM VIPLCVMSMALVLSRTR*NTTMTVPRFWGTP*CG SLPHSSRFHGPSPRRLRTFPLFPPHLAL*WNFV VSLQLFVMGIVLPSRR*RWK*NTQGFLLCLKNM VATRQGN*NSSDLSSSRRCWISQGCCWLNWRKNQ VVRSRRRLEN*SS*SLYWRCMVTSQV*TGRYN* LTTLME*KLLMRGKIHRGKLWPHLCCWY*SGVE N*LLLAVFRLRSWGELFAACTLEDRVTMLASLVV GCFVSIALSATISRSMPLMRVVFR*LLLPSPRA FWL*KGS*HPFWCKW*RVPT*MGYWTAMGIP*A AASTG*RLGCTIFYSRMRPLALRTTISWLPPEVL PCSTP*LSSRIL*RSVIRYLP*SKTSPTRSGNE CRTPGL*TCSSTTVRH*S*CYSVGASWSVTFDR RVGAMISVRSLTSMTVSSMMCSTMGVWDFKAQQS CSVSLRHWLMWSFPRSTGSVGRRNWKLLWASVF HCCGRYYLTCREPTRMSTPEACSPQVATFERVS ISPVRAMSTPCSVSSVMEDFLMRPRMQTGHCRLH PSLLRALAFRGDHPSFVTEKLVPWRYFLRLHPR GLVATGSFHLHGHPQK*SRVA*AHSAQGCSAPQ CWVAPPVPRIFRTTPAAMAKSYHLPV*STEMSSC LSRP*NDFLCRLQSIRLTGLKGVPWCLPSTLWK HCIMPFPYVKCHLWKPASHTRRSASHVRRSLTS ASHARTFLRRSASHVRRSLTSASNARRTMTMVTT HARRSLTSASHARSPANCARKSLRKFASYVWRT PRRSASHARGSLWRLASWSISSM*GLVAWSRKP L*KLAAQLKRSLRRSSSHTRSSLWRLAGWPRRLL RSICYLRASLRLINHPKSSLRRLICRPRRSLRR *IRSPGWSLK*LISCLERVFLKPSIHLVIQTLR ASL*PMTSTHPFHQQHVINFLISGITLYQPFEPA TFSVG*LTGQLSPAVSGEVVLFV*SIPVPELWL RRSQF*VRRSHWLLT*PLDLNRISLGWVGLSLP SLL*AS*EITDC*RKCRFTAEDTIWRQQMQKRGL *GLHFSGEMFTTSQGTLRPYVHSGDSCLCQHSS GEPGMAI*NVWKIESLPQTSDMATKSLDLPYRS FHIIPKCPFCLSPVPLGNSSREK*VLDCCAKFRA TT*NALEDS*PVCESGPPLWWGCLA*EML***R *SGSILSNQQRSILYRYKQRFNKYIYIYLFL*L CQGQTGQRPNTAGSPRNLSLYHCV*GPDMIMKLF PKIQGWEWEWVGGVMRSLESGAGTL*VLNKYKL MRMVVMD

Frame 2

TQE*PSSRTCLSHLLPEVNVSCWPNQGHAGISG MSGCSGRDVVIDGQ*GREYHGPLLPWSWR*GAG HPWNRHEARRE*QRAP*G*GG*SAS*TSDHCWH LCHDQEIQVQANDSNPRATLQI*LPDCCHSGRRC NP**TCGKLAILPLPHLFPLQRLSSGQSCCLLQ ASKPLSYQ*SGHAVLHPR*EGGVPDPAGRGY*S ASICCAQP*SCPA*GMQPDRR*RPSRGQWSCLSQ ALCGEASECRRPQCLHLLPQLSWRRKPASLS*D WQPKQCLLS*EQRPKDGVVHL*GVYANRWHRCQ GVYSGARLCPC*S*KISSFGWEG*TRQ*GERDSI SSHADCHGKAGGQESLRSFQANSLWI*PSSCQW SFLCV*CQWL*FCQELDEILR*LCQDSGEHHNA GACPTVPDSMVHPHGG*GHSHCSHHIWHYDGTSL CHCNYSSWGSYSQAEDEDGSETPKVFCSV*KTW WLQDREIKTQAT*AAPGGAGYHKAVVG*TGERT RW*DRGEDWKTRAAEVCTGDVWSLLRYKPEGTID LLPSWSKSF**GARSTEGNSGPISVAGTEVGWR TDSCWPCSG*GAGASFSLHVPWRTG*LCWLPWL WAASSP*HFPPRSQDLCL**GSCSDDCCCLRQGP SGSRRGADTHFGANGEECQHEWATGQRWGFLEQ LPAPGEGSAAPYSTAGCALWP*GLRSAGSHQKY FPAQLHDYHPESCEGL*SGICPDRKPHPPDPGTN AGPQVCRPAALPQ*DTRANATALEQAGA*LSTE EWAL*YQ*DP*HL*LCQV*CAAQWESGTSRHSR VAPSL*GTG*CGHSPGVRDQSGGETGNCCGLLSS TVAEDTT*PAENPRG*VLPRRALPRSPRSNASL FHQ*EPCPLPAQCLPLWRTS**DPGCRPGIADF TPAS*GPWPSEEITPHS*PKSWFHGGTF*DFILE AWWLPALFIFTATHRNEAEWPRLTVHRAVQHHS AGWLLQCPESSGLRPQPWQKATTCQSEAPR*AL VCPGRKTIFCVVCKASD*RV*RVFHGAYHLPSGN TA*CPFPTSSATYGNQPAIRGGQPAMSGGP*HQ PAMPGHF*GAQPAMSEGP*HQPAMPGEP*QW*P HMPGGPSHQPAMPEVQPTVPESL*GSLPAMSGEL RGGQPAMPGGLCGGWQAGP*VPCRGW*LGPGNP CRSWQPS*RDP*GGHPAIPGVLCGGWQAGPGDF CDQSVISGHP*D**TIPRVP*GD*SAGPGGP*GD KLEVLGGP*SD*SAAWRGYSSSPASIW*SKPSE PVSSP*PALTPSTSNM*LIFSLVVSHYTSHLSQ QPFLLANSLASSHQRCLGK*FSLYEAYLCQSCG* GGASFRFEEAIGSSLSH*T*IGFPWGGLVCHYP AFSEHPRKSQIVKGNAASLLKTPSGDSKCKRGD SRVFTFLGKCSRLLKVRLDHMCIQGTLVFASTPQ VSPGWLSEMSGK*SPFPKHLTWPLNL*TCLIDP SISSPSAPSASVLFLWAIALGKSRY*TAVQNSE QLLKML*RILSQSVKVGLLCGGAVWLRRCCSSRD NQVLF*AISRDQYCTDTSKGLINIYIYIYFCSC ARDRLAKDQTLQGPQEICPYIIVSEGQI*L*SF FQRSRDGNGSG*EG*CGHWSRGLEHYECSININ* *EWW*WM

Sequence NM_014659

GGACTCAAGAGTAGCCTTCCTCGAGGACCTGCCTTTCCCATTTGCTGCCTGAAGTTAATGTTTCTTGCTGGCCAAATCAGGGACATGCCGGCATTAGCGG GATGAGTGGGTGTTCCGGCAGGGATGTGGTCATTGACGGCCAGTGAGGGCGAGAGTACCACGGCCCACTTCTTCCTTGGAGCTGGAGATGAGGGGCTGGG CACCCGTGGAATAGGCATGAGGCCAGAAGAGAGTGACAGCGAGCTCCTTGAGGATGAGGAGGATGAAGTGCCTCCTGAACCTCAGATCATTGTTGGCATC TGTGCCATGACCAAGAAATCCAAGTCCAAGCCAATGACTCAAATCCTAGAGCGACTCTGCAGATTTGACTACCTGACTGTTGTCATTCTGGGAGAAGATG TAATCCTTAATGAACCTGTGGAAAACTGGCCATCCTGCCACTGCCTCATCTCTTTCCACTCCAAAGGCTTTCCTCTGGACAAAGCTGTTGCTTACTCCAA GCTTCGAAACCCCTTTCTTATCAATGATCTGGCCATGCAGTATTACATCCAAGATAGGAGGGAGGTGTACCGGATCCTGCAGGAAGAGGGTATTGATCTG CCTCGATATGCTGTGCTCAACCGTGATCCTGCCCGGCCTGAGGAATGCAACCTGATAGAAGGTGAAGACCAAGTAGAGGTCAATGGAGCTGTCTTTCCCA AGCCCTTTGTGGAGAAGCCAGTGAGTGCAGAAGACCACAATGTTTACATCTACTACCCCAGCTCAGCTGGAGGAGGAAGCCAGCGTCTCTTTCGTAAGAT TGGCAGCCGAAGCAGTGTTTACTCTCCTGAGAGCAGCGTCCGAAAGACGGGGTCGTACATCTATGAGGAGTTTATGCCAACAGATGGCACAGATGTCAAG GTGTATACAGTGGGGCCAGATTATGCCCATGCTGAAGCTAGAAAATCTCCAGCTTTGGATGGGAAGGTTGAACGAGACAGTGAGGGGAAAGAGATTCGAT ATCCAGTCATGCTGACTGCCATGGAAAAGCTGGTGGCCAGGAAAGTCTGCGTAGCTTTCAAGCAAACAGTTTGTGGATTTGACCTTCTTCGTGCCAATGG TCATTCCTTTGTGTGTGATGTCAATGGCTTTAGTTTTGTCAAGAACTCGATGAAATACTACGATGACTGTGCCAAGATTCTGGGGAACACCATAATGCGG GAGCTTGCCCCACAGTTCCAGATTCCATGGTCCATCCCCACGGAGGCTGAGGACATTCCCATTGTTCCCACCACATCTGGCACTATGATGGAACTTCGTT GTGTCATTGCAATTATTCGTCATGGGGATCGTACTCCCAAGCAGAAGATGAAGATGGAAGTGAAACACCCAAGGTTTTTTGCTCTGTTTGAAAAACATGG TGGCTACAAGACAGGGAAATTAAAACTCAAGCGACCTGAGCAGCTCCAGGAGGTGCTGGATATCACAAGGCTGTTGTTGGCTGAACTGGAGAAAGAACCA GGTGGTGAGATCGAGGAGAAGACTGGAAAACTAGAGCAGCTGAAGTCTGTACTGGAGATGTATGGTCACTTCTCAGGTATAAACCGGAAGGTACAATTGA CTTACTACCCTCATGGAGTAAAAGCTTCTAATGAGGGGCAAGATCCACAGAGGGAAACTCTGGCCCCATCTCTGTTGCTGGTACTGAAGTGGGGTGGAGA ACTGACTCCTGCTGGCCGTGTTCAGGCTGAGGAGCTGGGGCGAGCTTTTCGCTGCATGTACCCTGGAGGACAGGGTGACTATGCTGGCTTCCCTGGTTGT GGGCTGCTTCGTCTCCATAGCACTTTCCGCCACGATCTCAAGATCTATGCCTCTGATGAGGGTCGTGTTCAGATGACTGCTGCTGCCTTCGCCAAGGGCC TTCTGGCTCTAGAAGGGGAGCTGACACCCATTTTGGTGCAAATGGTGAAGAGTGCCAACATGAATGGGCTACTGGACAGCGATGGGGATTCCTTGAGCAG CTGCCAGCACCGGGTGAAGGCTCGGCTGCACCATATTCTACAGCAGGATGCGCCCTTTGGCCCTGAGGACTACGATCAGCTGGCTCCCACCAGAAGTACT TCCCTGCTCAACTCCATGACTATCATCCAGAATCCTGTGAAGGTCTGTGATCAGGTATTTGCCCTGATCGAAAACCTCACCCACCAGATCCGGGAACGAA TGCAGGACCCCAGGTCTGTAGACCTGCAGCTCTACCACAGTGAGACACTAGAGCTAATGCTACAGCGTTGGAGCAAGCTGGAGCGTGACTTTCGACAGAA GAGTGGGCGCTATGATATCAGTAAGATCCCTGACATCTATGACTGTGTCAAGTATGATGTGCAGCACAATGGGAGTCTGGGACTTCAAGGCACAGCAGAG TTGCTCCGTCTCTCTAAGGCACTGGCTGATGTGGTCATTCCCCAGGAGTACGGGATCAGTCGGGAGGAGAAACTGGAAATTGCTGTGGGCTTCTGTCTTC CACTGTTGCGGAAGATACTACTTGACCTGCAGAGAACCCACGAGGATGAGTCTGTCAACAAGCTGCATCCCCTGTACTCCCGAGGCGTGCTCTCCCCAGG TCGCCACGTTCGAACGCGTCTCTATTTCACCAGTGAGAGCCATGTCCACTCCCTGCTCAGTGTCTTCCGTTATGGAGGACTTCTTGATGAGACCCAGGAT GCACAATGGCAGCGAGCTTTGGATTATCTTAGTGCCATCTCAGAGCTTAACTACATGACCCAGATTGTCATCATGCTTTATGAGGACAACACACAGGATC CCTTATCAGAGGAACGGTTCCATGTGGAGCTACACTTCAGCCCCGGAGTGAAAGGTGTTGAGGAAGAAGGCAGTGCCCCGGCTGGCTGTGGATTCCGTCC AGCCTCTTCTGAGAATGAGGAGATGAAAACCAACCAAGGCAGTATGGAGAACCTGTGTCCAGGAAAGGCATCAGATGAACCAGACCGGGCATTGCAGACT TCACCCCAGCCTCCTGAGGGCCCTGGCCTTCCGAGGAGATCACCCCTCATTCGTAACCGAAAAGCTGGTTCCATGGAGGTACTTTCTGAGACTTCATCCT CGAGGCCTGGTGGCTACCGGCTCTTTTCATCTTCACGGCCACCCACAGAAATGAAGCAGAGTGGCCTAGGCTCACAGTGCACAGGGCTGTTCAGCACCAC AGTGCTGGGTGGCTCCTCCAGTGCCCCGAATCTTCAGGACTACGCCCGCAGCCATGGCAAAAAGCTACCACCTGCCAGTCTGAAGCACCGAGATGGGTTT GAAGGGTGTTCCATGGTGCCTACCATCTACCCTCTGGAAACACTGCATAATGCCCTTTCCCTACGTCAAGTGAGTGAATTCTTGAGTAGAGTCTGCCAGC GCCACACTGATGCCCAGGCACAGGCATCTGCAGCCCTCTTTGATTCCATGCACAGCAGCCAGGCCTCAGATAACCCATTTTCTCCACCACGTACTCTTCA TTCACCTCCCCTGCAACTCCAGCAGCGCTCTGAGAAGCCCCCTTGGTACAGCAGTGGCCCTTCTAGCACTGTGTCCAGTGCTGGTCCTTCTTCCCCTACT ACAGTAGATGGTAACTCCCAATTTGGCTTCAGTGATCAACCCTCCCTAAATTCACACGTGGCTGAAGAACATCAAGGCCTTGGGCTGCTCCAGGAGACCC CTGGGAGTGGAGCACAAGAGCTCTCCATAGAAGGGGAGCAAGAGCTTTTTGAACCAAATCAGTCCCCACAGGTGCCACCTATGGAAACCAGCCAGCCATA CGAGGAGGTCAGCCAGCCATGTCAGGAGGTCCCTGACATCAGCCAGCCATGCCAGGACATTTCTGAGGCGCTCAGCCAGCCATGTCAGAAGGTCCCTGAC ATCAGCCAGCAATGCCAGGAGAACCATGACAATGGTAACCACACATGCCAGGAGGTCCCTCACATCAGCCAGCCATGCCAGAAGTCCAGCCAACTGTGCC AGAAAGTCTCTGAGGAAGTTTGCCAGCTATGTCTGGAGAACTCCGAGGAGGTCAGCCAGCCATGCCAGGGGGTCTCTGTGGAGGTTGGCAAGCTGGTCCA TAAGTTCCATGTAGGGGTTGGTAGCTTGGTCCAGGAAACCCTTGTAGAAGTTGGCAGCCCAGCTGAAGAGATCCCTGAGGAGGTCATCCAGCCATACCAG GAGTTCTCTGTGGAGGTTGGCAGGCTGGCCCAGGAGACTTCTGCGATCAATCTGTTATCTCAGGGCATCCCTGAGATTGATAAACCATCCCAAGAGTTCC CTGAGGAGATTGATCTGCAGGCCCAGGAGGTCCCTGAGGAGATAAATTAGAAGTCCTGGGTGGTCCCTGAAGTGATTGATCAGCTGCCTGGAGAGGGTAT TCCTCAAGCCCAGCATCCATCTGGTGATCCAAACCCTCAGAGCCAGTCTCTAGCCCATGACCAGCACTCACCCCTTCCACCAGCAACATGTGATTAATTT TCTCATTAGTGGTATCACACTATACCAGCCATTTGAGCCAGCAACCTTTTCTGTTGGCTAACTCACTGGCCAGCTCTCACCAGCGGTGTCTGGGGAAGTA GTTCTCTTTGTATGAAGCATACCTGTGCCAGAGCTGTGGTTGAGGAGGAGCCAGTTTTAGGTTCGAAGAAGCCATTGGCTCCTCACTTAGCCATTAGACT TGAATAGGATTTCCTTGGGGTGGGTTGGTCTGTCATTACCCAGCCTTCTCTGAGCATCCTAGGAAATCACAGATTGTTAAAGGAAATGCCGCTTCACTGC TGAAGACACCATCTGGCGACAGCAAATGCAAAAGAGGGGACTCTAGGGTCTTCACTTTTCTGGGGAAATGTTCACGACTTCTCAAGGTACGCTTAGACCA TATGTGCATTCAGGGGACTCTTGTCTTTGCCAGCACTCCTCAGGTGAGCCCGGGATGGCTATCTGAAATGTCTGGAAAATAGAGTCCCTTCCCCAAACAT CTGACATGGCCACTAAATCTTTAGACTTGCCTTATAGATCCTTCCATATCATCCCCAAGTGCCCCTTCTGCCTCAGTCCTGTTCCTCTGGGCAATAGCTC TAGGGAAAAGTAGGTATTAGACTGCTGTGCAAAATTCAGAGCAACTACTTAAAATGCTCTAGAGGATTCTTAGCCAGTCTGTGAAAGTGGGCCTCCTCTG TGGTGGGGCTGTTTGGCTTAGGAGATGCTGTAGTAGTAGAGATAATCAGGTTCTATTTTAAGCAATCAGCAGAGATCAATATTGTACAGATACAAGCAAA GGTTTAATAAATATATATATATATATTTATTTCTGTAGTTGTGCCAGGGACAGACTGGCCAAAGACCAAACACTGCAGGGTCCCCAAGAAATTTGTCCTT ATATCATTGTGTCTGAGGGCCAGATATGATTATGAAGCTTTTTCCAAAGATCCAGGGATGGGAATGGGAGTGGGTAGGAGGGGTAATGCGGTCATTGGAG TCGGGGGCTGGAACATTATGAGTGCTCAATAAATATAAACTAATGAGAATGGTGGTGATGGATGA

refseq_HISPPD2A.F1 (forward primer)
refseq_HISPPD2A.R1 (reverse primer)
Exon skipping and alternative donor or acceptor

Frame 0

GLKSSLPRGPAFPICCLKLMFLAGQIRDMPALA G*VGVPAGMWSLTASEGESTTAHFFLGAGDEGLG TRGIGMRPEESDSELLEDEEDEVPPEPQIIVGI CAMTKKSKSKPMTQILERLCRFDYLTVVILGED VILNEPVENWPSCHCLISFHSKGFPLDKAVAYSK LRNPFLINDLAMQYYIQDRREVYRILQEEGIDL PRYAVLNRDPARPEECNLIEGEDQVEVNGAVFP KPFVEKPVSAEDHNVYIYYPSSAGGGSQRLFRKI GSRSSVYSPESSVRKTGSYIYEEFMPTDGTDVK VYTVGPDYAHAEARKSPALDGKVERDSEGKEIR YPVMLTAMEKLVARKVCVAFKQTVCGFDLLRANG HSFVCDVNGFSFVKNSMKYYDDCAKILGNTIMR ELAPQFQIPWSIPTEAEDIPIVPTTSGTMMELR CVIAIIRHGDRTPKQKMKMEVKHPRFFALFEKHG GYKTGKLKLKRPEQLQEVLDITRLLLAELEKEP GGEIEEKTGKLEQLKSVLEMYGHFSGINRKVQL TYYPHGVKASNEGQDPQRETLAPSLLLVLKWGGE LTPAGRVQAEELGRAFRCMYPGGQGDYAGFPGC GLLRLHSTFRHDLKIYASDEGRVQMTAAAFAKG LLALEGELTPILVQMVKSANMNGLLDSDGDSLSS CQHRVKARLHHILQQDAPFGPEDYDQLAPTRST SLLNSMTIIQNPVKVCDQVFALIENLTHQIRER MQDPRSVDLQLYHSETLELMLQRWSKLERDFRQK SGRYDISKIPDIYDCVKYDVQHNGSLGLQGTAE LLRLSKALADVVIPQEYGISREEKLEIAVGFCL PLLRKILLDLQRTHEDESVNKLHPLYSRGVLSPG RHVRTRLYFTSESHVHSLLSVFRYGGLLDETQD AQWQRALDYLSAISELNYMTQIVIMLYEDNTQD PLSEERFHVELHFSPGVKGVEEEGSAPAGCGFRP ASSENEEMKTNQGSMENLCPGKASDEPDRALQT SPQPPEGPGLPRRSPLIRNRKAGSMEVLSETSS SRPGGYRLFSSSRPPTEMKQSGLGSQCTGLFSTT VLGGSSSAPNLQDYARSHGKKLPPASLKHRDGF EGCSMVPTIYPLETLHNALSLRQVSEFLSRVCQ RHTDAQAQASAALFDSMHSSQASDNPFSPPRTLH SPPLQLQQRSEKPPWYSSGPSSTVSSAGPSSPT TVDGNSQFGFSDQPSLNSHVAEEHQGLGLLQET PGSGAQELSIEGEQELFEPNQSPQVPPMETSQPY EEVSQPCQEVPDISQPCQDISEALSQPCQKVPD ISQQCQENHDNGNHTCQEVPHISQPCQKSSQLC QKVSEEVCQLCLENSEEVSQPCQGVSVEVGKLVH KFHVGVGSLVQETLVEVGSPAEEIPEEVIQPYQ EFSVEVGRLAQETSAINLLSQGIPEIDKPSQEF PEEIDLQAQEVPEEIN*KSWVVPEVIDQLPGEGI PQAQHPSGDPNPQSQSLAHDQHSPLPPATCD*F SH*WYHTIPAI*ASNLFCWLTHWPALTSGVWGS SSLCMKHTCARAVVEEEPVLGSKKPLAPHLAIRL E*DFLGVGWSVITQPSLSILGNHRLLKEMPLHC *RHHLATANAKEGTLGSSLFWGNVHDFSRYA*T ICAFRGLLSLPALLR*ARDGYLKCLENRVPSPNI *HGH*IFRLAL*ILPYHPQVPLLPQSCSSGQ*L *GKVGIRLLCKIQSNYLKCSRGFLASL*KWASS VVGLFGLGDAVVVEIIRFYFKQSAEINIVQIQAK V**IYIYIFISVVVPGTDWPKTKHCRVPKKFVL ISLCLRARYDYEAFSKDPGMGMGVGRRGNAVIG VGGWNIMSAQ*I*TNENGGDG*

Frame 1

DSRVAFLEDLPFPFAA*S*CFLLAKSGTCRH*R DEWVFRQGCGH*RPVRARVPRPTSSLELEMRGW APVE*A*GQKRVTASSLRMRRMKCLLNLRSLLAS VP*PRNPSPSQ*LKS*SDSADLTT*LLSFWEKM *SLMNLWKTGHPATASSLSTPKAFLWTKLLLTP SFETPFLSMIWPCSITSKIGGRCTGSCRKRVLIC LDMLCSTVILPGLRNAT**KVKTK*RSMELSFP SPLWRSQ*VQKTTMFTSTTPAQLEEEASVSFVR LAAEAVFTLLRAASERRGRTSMRSLCQQMAQMSR CIQWGQIMPMLKLENLQLWMGRLNETVRGKRFD IQSC*LPWKSWWPGKSA*LSSKQFVDLTFFVPM VIPLCVMSMALVLSRTR*NTTMTVPRFWGTP*CG SLPHSSRFHGPSPRRLRTFPLFPPHLAL*WNFV VSLQLFVMGIVLPSRR*RWK*NTQGFLLCLKNM VATRQGN*NSSDLSSSRRCWISQGCCWLNWRKNQ VVRSRRRLEN*SS*SLYWRCMVTSQV*TGRYN* LTTLME*KLLMRGKIHRGKLWPHLCCWY*SGVE N*LLLAVFRLRSWGELFAACTLEDRVTMLASLVV GCFVSIALSATISRSMPLMRVVFR*LLLPSPRA FWL*KGS*HPFWCKW*RVPT*MGYWTAMGIP*A AASTG*RLGCTIFYSRMRPLALRTTISWLPPEVL PCSTP*LSSRIL*RSVIRYLP*SKTSPTRSGNE CRTPGL*TCSSTTVRH*S*CYSVGASWSVTFDR RVGAMISVRSLTSMTVSSMMCSTMGVWDFKAQQS CSVSLRHWLMWSFPRSTGSVGRRNWKLLWASVF HCCGRYYLTCREPTRMSLSTSCIPCTPEACSPQ VATFERVSISPVRAMSTPCSVSSVMEDFLMRPRM HNGSELWIILVPSQSLTT*PRLSSCFMRTTHRI PYQRNGSMWSYTSAPE*KVLRKKAVPRLAVDSV QPLLRMRR*KPTKAVWRTCVQERHQMNQTGHCRL HPSLLRALAFRGDHPSFVTEKLVPWRYFLRLHP RGLVATGSFHLHGHPQK*SRVA*AHSAQGCSAP QCWVAPPVPRIFRTTPAAMAKSYHLPV*STEMGL KGVPWCLPSTLWKHCIMPFPYVK*VNS*VESAS ATLMPRHRHLQPSLIPCTAARPQITHFLHHVLF IHLPCNSSSALRSPLGTAVALLALCPVLVLLPLL Q*MVTPNLASVINPP*IHTWLKNIKALGCSRRP LGVEHKSSP*KGSKSFLNQISPHRCHLWKPASH TRRSASHVRRSLTSASHARTFLRRSASHVRRSLT SASNARRTMTMVTTHARRSLTSASHARSPANCA RKSLRKFASYVWRTPRRSASHARGSLWRLASWS ISSM*GLVAWSRKPL*KLAAQLKRSLRRSSSHTR SSLWRLAGWPRRLLRSICYLRASLRLINHPKSS LRRLICRPRRSLRR*IRSPGWSLK*LISCLERV FLKPSIHLVIQTLRASL*PMTSTHPFHQQHVINF LISGITLYQPFEPATFSVG*LTGQLSPAVSGEV VLFV*SIPVPELWLRRSQF*VRRSHWLLT*PLD LNRISLGWVGLSLPSLL*AS*EITDC*RKCRFTA EDTIWRQQMQKRGL*GLHFSGEMFTTSQGTLRP YVHSGDSCLCQHSSGEPGMAI*NVWKIESLPQT SDMATKSLDLPYRSFHIIPKCPFCLSPVPLGNSS REK*VLDCCAKFRATT*NALEDS*PVCESGPPL WWGCLA*EML***R*SGSILSNQQRSILYRYKQ RFNKYIYIYLFL*LCQGQTGQRPNTAGSPRNLSL YHCV*GPDMIMKLFPKIQGWEWEWVGGVMRSLE SGAGTL*VLNKYKLMRMVVMD

Frame 2

TQE*PSSRTCLSHLLPEVNVSCWPNQGHAGISG MSGCSGRDVVIDGQ*GREYHGPLLPWSWR*GAG HPWNRHEARRE*QRAP*G*GG*SAS*TSDHCWH LCHDQEIQVQANDSNPRATLQI*LPDCCHSGRRC NP**TCGKLAILPLPHLFPLQRLSSGQSCCLLQ ASKPLSYQ*SGHAVLHPR*EGGVPDPAGRGY*S ASICCAQP*SCPA*GMQPDRR*RPSRGQWSCLSQ ALCGEASECRRPQCLHLLPQLSWRRKPASLS*D WQPKQCLLS*EQRPKDGVVHL*GVYANRWHRCQ GVYSGARLCPC*S*KISSFGWEG*TRQ*GERDSI SSHADCHGKAGGQESLRSFQANSLWI*PSSCQW SFLCV*CQWL*FCQELDEILR*LCQDSGEHHNA GACPTVPDSMVHPHGG*GHSHCSHHIWHYDGTSL CHCNYSSWGSYSQAEDEDGSETPKVFCSV*KTW WLQDREIKTQAT*AAPGGAGYHKAVVG*TGERT RW*DRGEDWKTRAAEVCTGDVWSLLRYKPEGTID LLPSWSKSF**GARSTEGNSGPISVAGTEVGWR TDSCWPCSG*GAGASFSLHVPWRTG*LCWLPWL WAASSP*HFPPRSQDLCL**GSCSDDCCCLRQGP SGSRRGADTHFGANGEECQHEWATGQRWGFLEQ LPAPGEGSAAPYSTAGCALWP*GLRSAGSHQKY FPAQLHDYHPESCEGL*SGICPDRKPHPPDPGTN AGPQVCRPAALPQ*DTRANATALEQAGA*LSTE EWAL*YQ*DP*HL*LCQV*CAAQWESGTSRHSR VAPSL*GTG*CGHSPGVRDQSGGETGNCCGLLSS TVAEDTT*PAENPRG*VCQQAASPVLPRRALPR SPRSNASLFHQ*EPCPLPAQCLPLWRTS**DPG CTMAASFGLS*CHLRA*LHDPDCHHAL*GQHTGS LIRGTVPCGATLQPRSERC*GRRQCPGWLWIPS SLF*E*GDENQPRQYGEPVSRKGIR*TRPGIAD FTPAS*GPWPSEEITPHS*PKSWFHGGTF*DFIL EAWWLPALFIFTATHRNEAEWPRLTVHRAVQHH SAGWLLQCPESSGLRPQPWQKATTCQSEAPRWV *RVFHGAYHLPSGNTA*CPFPTSSE*ILE*SLPA PH*CPGTGICSPL*FHAQQPGLR*PIFSTTYSS FTSPATPAAL*EAPLVQQWPF*HCVQCWSFFPY YSRW*LPIWLQ*STLPKFTRG*RTSRPWAAPGDP WEWSTRALHRRGARAF*TKSVPTGATYGNQPAI RGGQPAMSGGP*HQPAMPGHF*GAQPAMSEGP* HQPAMPGEP*QW*PHMPGGPSHQPAMPEVQPTVP ESL*GSLPAMSGELRGGQPAMPGGLCGGWQAGP *VPCRGW*LGPGNPCRSWQPS*RDP*GGHPAIP GVLCGGWQAGPGDFCDQSVISGHP*D**TIPRVP *GD*SAGPGGP*GDKLEVLGGP*SD*SAAWRGY SSSPASIW*SKPSEPVSSP*PALTPSTSNM*LI FSLVVSHYTSHLSQQPFLLANSLASSHQRCLGK* FSLYEAYLCQSCG*GGASFRFEEAIGSSLSH*T *IGFPWGGLVCHYPAFSEHPRKSQIVKGNAASL LKTPSGDSKCKRGDSRVFTFLGKCSRLLKVRLDH MCIQGTLVFASTPQVSPGWLSEMSGK*SPFPKH LTWPLNL*TCLIDPSISSPSAPSASVLFLWAIA LGKSRY*TAVQNSEQLLKML*RILSQSVKVGLLC GGAVWLRRCCSSRDNQVLF*AISRDQYCTDTSK GLINIYIYIYFCSCARDRLAKDQTLQGPQEICP YIIVSEGQI*L*SFFQRSRDGNGSG*EG*CGHWS RGLEHYECSININ**EWW*WM