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Sequence NM_199166
CAAGGCGCATGCGCAGCGGTCACTCCCGCTGTATATTAAGGCGCCGGCGATCGCGGCCTGAGGCTGCTCCCGGACAAGGGCAACGAGCGTTTCGTTTGGACTTCTCGACTTGAGTGCCCGCCTCCTTCGCCGCCGCCTCTGCAGTCCTCAGCGCAGTCTTTCCACAGGAGCCAGCATACTTCCTGAACATGGAGAGTGTT
GTTCGCCGCTGCCCATTCTTATCCCGAGTCCCCCAGGCCTTTCTGCAGAAAGCAGGCAAATCTCTGTTGTTCTATGCCCAAAACTGCCCCAAGATGATGG
AAGTTGGGGCCAAGCCAGCCCCTCGGGCATTGTCCACTGCAGCAGTACACTACCAACAGATCAAAGAAACCCCTCCGGCCAGTGAGAAAGACAAAACTGC
TAAGGCCAAGGTCCAACAGACTCCTGATGGATCCCAGCAGAGTCCAGATGGCACACAGCTTCCGTCTGGACACCCCTTGCCTGCCACAAGCCAGGGCACT
GCAAGCAAATGCCCTTTCCTGGCAGCACAGATGAATCAGAGAGGCAGCAGTGTCTTCTGCAAAGCCAGTCTTGAGCTTCAGGAGGATGTGCAGGAAATGA
ATGCCGTGAGGAAAGAGGTTGCTGAAACCTCAGCAGGCCCCAGTGTGGTTAGTGTGAAAACCGATGGAGGGGATCCCAGTGGACTGCTGAAGAACTTCCA
GGACATCATGCAAAAGCAAAGACCAGAAAGAGTGTCTCATCTTCTTCAAGATAACTTGCCAAAATCTGTTTCCACTTTTCAGTATGATCGTTTCTTTGAG
AAAAAAATTGATGAGAAAAAGAATGACCACACCTATCGAGTTTTTAAAACTGTGAACCGGCGAGCACACATCTTCCCCATGGCAGATGACTATTCAGACT
CCCTCATCACCAAAAAGCAAGTGTCAGTCTGGTGCAGTAATGACTACCTAGGAATGAGTCGCCACCCACGGGTGTGTGGGGCAGTTATGGACACTTTGAA
ACAACATGGTGCTGGGGCAGGTGGTACTAGAAATATTTCTGGAACTAGTAAATTCCATGTGGACTTAGAGCGGGAGCTGGCAGACCTCCATGGGAAAGAT
GCCGCACTCTTGTTTTCCTCGTGCTTTGTGGCCAATGACTCAACCCTCTTCACCCTGGCTAAGATGATGCCAGGCTGTGAGATTTACTCTGATTCTGGGA
ACCATGCCTCCATGATCCAAGGGATTCGAAACAGCCGAGTGCCAAAGTACATCTTCCGCCACAATGATGTCAGCCACCTCAGAGAACTGCTGCAAAGATC
TGACCCCTCAGTCCCCAAGATTGTGGCATTTGAAACTGTCCATTCAATGGATGGGGCGGTGTGCCCACTGGAAGAGCTGTGTGATGTGGCCCATGAGTTT
GGAGCAATCACCTTCGTGGATGAGGTCCACGCAGTGGGGCTTTATGGGGCTCGAGGCGGAGGGATTGGGGATCGGGATGGAGTCATGCCAAAAATGGACA
TCATTTCTGGAACACTTGGCAAAGCCTTTGGTTGTGTTGGAGGGTACATCGCCAGCACGAGTTCTCTGATTGACACCGTACGGTCCTATGCTGCTGGCTT
CATCTTCACCACCTCTCTGCCACCCATGCTGCTGGCTGGAGCCCTGGAGTCTGTGCGGATCCTGAAGAGCGCTGAGGGACGGGTGCTTCGCCGCCAGCAC
CAGCGCAACGTCAAACTCATGAGACAGATGCTAATGGATGCCGGCCTCCCTGTTGTCCACTGCCCCAGCCACATCATCCCTGTGCGGGTTGCAGATGCTG
CTAAAAACACAGAAGTCTGTGATGAACTAATGAGCAGACATAACATCTACGTGCAAGCAATCAATTACCCTACGGTGCCCCGGGGAGAAGAGCTCCTACG
GATTGCCCCCACCCCTCACCACACACCCCAGATGATGAACTACTTCCTTGAGAATCTGCTAGTCACATGGAAGCAAGTGGGGCTGGAACTGAAGCCTCAT
TCCTCAGCTGAGTGCAACTTCTGCAGGAGGCCACTGCATTTTGAAGTGATGAGTGAAAGAGAGAAGTCCTATTTCTCAGGCTTGAGCAAGTTGGTATCTG
CTCAGGCCTGAGCATGACCTCAATTATTTCACTTAACCCCAGGCCATTATCATATCCAGATGGTCTTCAGAGTTGTCTTTATATGTGAATTAAGTTATAT
TAAATTTTAATCTATAGTAAAAACATAGTCCTGGAAATAAATTCTTGCTTAAATGGTG
- refseq_ALAS1.F2 (forward primer)
- refseq_ALAS1.R2 (reverse primer)
- Single exon skipping
Frame 0
QGACAAVTPAVY*GAGDRGLRLLPDKGNERFVWTSRLECPPPSPPPLQSSAQSFHRSQHTS*TWRVL
FAAAHSYPESPRPFCRKQANLCCSMPKTAPR*W
KLGPSQPLGHCPLQQYTTNRSKKPLRPVRKTKL
LRPRSNRLLMDPSRVQMAHSFRLDTPCLPQARAL
QANALSWQHR*IREAAVSSAKPVLSFRRMCRK*
MP*GKRLLKPQQAPVWLV*KPMEGIPVDC*RTS
RTSCKSKDQKECLIFFKITCQNLFPLFSMIVSLR
KKLMRKRMTTPIEFLKL*TGEHTSSPWQMTIQT
PSSPKSKCQSGAVMTT*E*VATHGCVGQLWTL*
NNMVLGQVVLEIFLELVNSMWT*SGSWQTSMGKM
PHSCFPRALWPMTQPSSPWLR*CQAVRFTLILG
TMPP*SKGFETAECQSTSSATMMSATSENCCKD
LTPQSPRLWHLKLSIQWMGRCAHWKSCVMWPMSL
EQSPSWMRSTQWGFMGLEAEGLGIGMESCQKWT
SFLEHLAKPLVVLEGTSPARVL*LTPYGPMLLA
SSSPPLCHPCCWLEPWSLCGS*RALRDGCFAAST
SATSNS*DRC*WMPASLLSTAPATSSLCGLQML
LKTQKSVMN**ADITSTCKQSITLRCPGEKSSY
GLPPPLTTHPR**TTSLRIC*SHGSKWGWN*SLI
PQLSATSAGGHCILK**VKERSPISQA*ASWYL
LRPEHDLNYFT*PQAIIISRWSSELSLYVN*VI
LNFNL**KHSPGNKFLLKW
Frame 1
KAHAQRSLPLYIKAPAIAA*GCSRTRATSVSFGLLDLSARLLRRRLCSPQRSLSTGASILPEHGEC
CSPLPILIPSPPGLSAESRQISVVLCPKLPQDDG
SWGQASPSGIVHCSSTLPTDQRNPSGQ*ERQNC
*GQGPTDS*WIPAESRWHTASVWTPLACHKPGH
CKQMPFPGSTDESERQQCLLQSQS*ASGGCAGNE
CREERGC*NLSRPQCG*CENRWRGSQWTAEELP
GHHAKAKTRKSVSSSSR*LAKICFHFSV*SFL*
EKN**EKE*PHLSSF*NCEPASTHLPHGR*LFRL
PHHQKASVSLVQ**LPRNESPPTGVWGSYGHFE
TTWCWGRWY*KYFWN**IPCGLRAGAGRPPWER
CRTLVFLVLCGQ*LNPLHPG*DDARL*DLL*FWE
PCLHDPRDSKQPSAKVHLPPQ*CQPPQRTAAKI
*PLSPQDCGI*NCPFNGWGGVPTGRAV*CGP*V
WSNHLRG*GPRSGALWGSRRRDWGSGWSHAKNGH
HFWNTWQSLWLCWRVHRQHEFSD*HRTVLCCWL
HLHHLSATHAAGWSPGVCADPEER*GTGASPPA
PAQRQTHETDANGCRPPCCPLPQPHHPCAGCRCC
*KHRSL**TNEQT*HLRASNQLPYGAPGRRAPT
DCPHPSPHTPDDELLP*ESASHMEASGAGTEAS
FLS*VQLLQEATAF*SDE*KREVLFLRLEQVGIC
SGLSMTSIISLNPRPLSYPDGLQSCLYM*IKLY
*ILIYSKNIVLEINSCLNG
Frame 2
RRMRSGHSRCILRRRRSRPEAAPGQGQRAFRLDFST*VPASFAAASAVLSAVFPQEPAYFLNMESV
VRRCPFLSRVPQAFLQKAGKSLLFYAQNCPKMM
EVGAKPAPRALSTAAVHYQQIKETPPASEKDKTA
KAKVQQTPDGSQQSPDGTQLPSGHPLPATSQGT
ASKCPFLAAQMNQRGSSVFCKASLELQEDVQEM
NAVRKEVAETSAGPSVVSVKTDGGDPSGLLKNFQ
DIMQKQRPERVSHLLQDNLPKSVSTFQYDRFFE
KKIDEKKNDHTYRVFKTVNRRAHIFPMADDYSD
SLITKKQVSVWCSNDYLGMSRHPRVCGAVMDTLK
QHGAGAGGTRNISGTSKFHVDLERELADLHGKD
AALLFSSCFVANDSTLFTLAKMMPGCEIYSDSG
NHASMIQGIRNSRVPKYIFRHNDVSHLRELLQRS
DPSVPKIVAFETVHSMDGAVCPLEELCDVAHEF
GAITFVDEVHAVGLYGARGGGIGDRDGVMPKMD
IISGTLGKAFGCVGGYIASTSSLIDTVRSYAAGF
IFTTSLPPMLLAGALESVRILKSAEGRVLRRQH
QRNVKLMRQMLMDAGLPVVHCPSHIIPVRVADA
AKNTEVCDELMSRHNIYVQAINYPTVPRGEELLR
IAPTPHHTPQMMNYFLENLLVTWKQVGLELKPH
SSAECNFCRRPLHFEVMSEREKSYFSGLSKLVS
AQA*A*PQLFHLTPGHYHIQMVFRVVFICELSYI
KF*SIVKT*SWK*ILA*MV
Sequence NM_000688
CAAGGCGCATGCGCAGCGGTCACTCCCGCTGTATATTAAGGCGCCGGCGATCGCGGCCTGAGGCTGCTCCCGGACAAGGGCAACGAGCGTTTCGTTTGGACTTCTCGACTTGAGTGCCCGCCTCCTTCGCCGCCGCCTCTGCAGTCCTCAGCGCAGTTATGCCCAGTTCTTCCCGCTGTGGGGACACGACCACGGAGGAA
TCCTTGCTTCAGGGACTCGGGACCCTGCTGGACCCCTTCCTCGGGTTTAGGGGATGTGGGGACCAGGAGAAAGTCAGGATCCCTAAGAGTCTTCCCTGCC
TGGATGGATGAGTGGCTTCTTCTCCACCTAGATTCTTTCCACAGGAGCCAGCATACTTCCTGAACATGGAGAGTGTTGTTCGCCGCTGCCCATTCTTATC
CCGAGTCCCCCAGGCCTTTCTGCAGAAAGCAGGCAAATCTCTGTTGTTCTATGCCCAAAACTGCCCCAAGATGATGGAAGTTGGGGCCAAGCCAGCCCCT
CGGGCATTGTCCACTGCAGCAGTACACTACCAACAGATCAAAGAAACCCCTCCGGCCAGTGAGAAAGACAAAACTGCTAAGGCCAAGGTCCAACAGACTC
CTGATGGATCCCAGCAGAGTCCAGATGGCACACAGCTTCCGTCTGGACACCCCTTGCCTGCCACAAGCCAGGGCACTGCAAGCAAATGCCCTTTCCTGGC
AGCACAGATGAATCAGAGAGGCAGCAGTGTCTTCTGCAAAGCCAGTCTTGAGCTTCAGGAGGATGTGCAGGAAATGAATGCCGTGAGGAAAGAGGTTGCT
GAAACCTCAGCAGGCCCCAGTGTGGTTAGTGTGAAAACCGATGGAGGGGATCCCAGTGGACTGCTGAAGAACTTCCAGGACATCATGCAAAAGCAAAGAC
CAGAAAGAGTGTCTCATCTTCTTCAAGATAACTTGCCAAAATCTGTTTCCACTTTTCAGTATGATCGTTTCTTTGAGAAAAAAATTGATGAGAAAAAGAA
TGACCACACCTATCGAGTTTTTAAAACTGTGAACCGGCGAGCACACATCTTCCCCATGGCAGATGACTATTCAGACTCCCTCATCACCAAAAAGCAAGTG
TCAGTCTGGTGCAGTAATGACTACCTAGGAATGAGTCGCCACCCACGGGTGTGTGGGGCAGTTATGGACACTTTGAAACAACATGGTGCTGGGGCAGGTG
GTACTAGAAATATTTCTGGAACTAGTAAATTCCATGTGGACTTAGAGCGGGAGCTGGCAGACCTCCATGGGAAAGATGCCGCACTCTTGTTTTCCTCGTG
CTTTGTGGCCAATGACTCAACCCTCTTCACCCTGGCTAAGATGATGCCAGGCTGTGAGATTTACTCTGATTCTGGGAACCATGCCTCCATGATCCAAGGG
ATTCGAAACAGCCGAGTGCCAAAGTACATCTTCCGCCACAATGATGTCAGCCACCTCAGAGAACTGCTGCAAAGATCTGACCCCTCAGTCCCCAAGATTG
TGGCATTTGAAACTGTCCATTCAATGGATGGGGCGGTGTGCCCACTGGAAGAGCTGTGTGATGTGGCCCATGAGTTTGGAGCAATCACCTTCGTGGATGA
GGTCCACGCAGTGGGGCTTTATGGGGCTCGAGGCGGAGGGATTGGGGATCGGGATGGAGTCATGCCAAAAATGGACATCATTTCTGGAACACTTGGCAAA
GCCTTTGGTTGTGTTGGAGGGTACATCGCCAGCACGAGTTCTCTGATTGACACCGTACGGTCCTATGCTGCTGGCTTCATCTTCACCACCTCTCTGCCAC
CCATGCTGCTGGCTGGAGCCCTGGAGTCTGTGCGGATCCTGAAGAGCGCTGAGGGACGGGTGCTTCGCCGCCAGCACCAGCGCAACGTCAAACTCATGAG
ACAGATGCTAATGGATGCCGGCCTCCCTGTTGTCCACTGCCCCAGCCACATCATCCCTGTGCGGGTTGCAGATGCTGCTAAAAACACAGAAGTCTGTGAT
GAACTAATGAGCAGACATAACATCTACGTGCAAGCAATCAATTACCCTACGGTGCCCCGGGGAGAAGAGCTCCTACGGATTGCCCCCACCCCTCACCACA
CACCCCAGATGATGAACTACTTCCTTGAGAATCTGCTAGTCACATGGAAGCAAGTGGGGCTGGAACTGAAGCCTCATTCCTCAGCTGAGTGCAACTTCTG
CAGGAGGCCACTGCATTTTGAAGTGATGAGTGAAAGAGAGAAGTCCTATTTCTCAGGCTTGAGCAAGTTGGTATCTGCTCAGGCCTGAGCATGACCTCAA
TTATTTCACTTAACCCCAGGCCATTATCATATCCAGATGGTCTTCAGAGTTGTCTTTATATGTGAATTAAGTTATATTAAATTTTAATCTATAGTAAAAA
CATAGTCCTGGAAATAAATTCTTGCTTAAATGGTG
- refseq_ALAS1.F2 (forward primer)
- refseq_ALAS1.R2 (reverse primer)
- Single exon skipping
Frame 0
QGACAAVTPAVY*GAGDRGLRLLPDKGNERFVWTSRLECPPPSPPPLQSSAQLCPVLPAVGTRPRRN
PCFRDSGPCWTPSSGLGDVGTRRKSGSLRVFPA
WMDEWLLLHLDSFHRSQHTS*TWRVLFAAAHSY
PESPRPFCRKQANLCCSMPKTAPR*WKLGPSQPL
GHCPLQQYTTNRSKKPLRPVRKTKLLRPRSNRL
LMDPSRVQMAHSFRLDTPCLPQARALQANALSW
QHR*IREAAVSSAKPVLSFRRMCRK*MP*GKRLL
KPQQAPVWLV*KPMEGIPVDC*RTSRTSCKSKD
QKECLIFFKITCQNLFPLFSMIVSLRKKLMRKR
MTTPIEFLKL*TGEHTSSPWQMTIQTPSSPKSKC
QSGAVMTT*E*VATHGCVGQLWTL*NNMVLGQV
VLEIFLELVNSMWT*SGSWQTSMGKMPHSCFPR
ALWPMTQPSSPWLR*CQAVRFTLILGTMPP*SKG
FETAECQSTSSATMMSATSENCCKDLTPQSPRL
WHLKLSIQWMGRCAHWKSCVMWPMSLEQSPSWM
RSTQWGFMGLEAEGLGIGMESCQKWTSFLEHLAK
PLVVLEGTSPARVL*LTPYGPMLLASSSPPLCH
PCCWLEPWSLCGS*RALRDGCFAASTSATSNS*
DRC*WMPASLLSTAPATSSLCGLQMLLKTQKSVM
N**ADITSTCKQSITLRCPGEKSSYGLPPPLTT
HPR**TTSLRIC*SHGSKWGWN*SLIPQLSATS
AGGHCILK**VKERSPISQA*ASWYLLRPEHDLN
YFT*PQAIIISRWSSELSLYVN*VILNFNL**K
HSPGNKFLLKW
Frame 1
KAHAQRSLPLYIKAPAIAA*GCSRTRATSVSFGLLDLSARLLRRRLCSPQRSYAQFFPLWGHDHGG
ILASGTRDPAGPLPRV*GMWGPGESQDP*ESSLP
GWMSGFFST*ILSTGASILPEHGECCSPLPILI
PSPPGLSAESRQISVVLCPKLPQDDGSWGQASP
SGIVHCSSTLPTDQRNPSGQ*ERQNC*GQGPTDS
*WIPAESRWHTASVWTPLACHKPGHCKQMPFPG
STDESERQQCLLQSQS*ASGGCAGNECREERGC
*NLSRPQCG*CENRWRGSQWTAEELPGHHAKAKT
RKSVSSSSR*LAKICFHFSV*SFL*EKN**EKE
*PHLSSF*NCEPASTHLPHGR*LFRLPHHQKAS
VSLVQ**LPRNESPPTGVWGSYGHFETTWCWGRW
Y*KYFWN**IPCGLRAGAGRPPWERCRTLVFLV
LCGQ*LNPLHPG*DDARL*DLL*FWEPCLHDPR
DSKQPSAKVHLPPQ*CQPPQRTAAKI*PLSPQDC
GI*NCPFNGWGGVPTGRAV*CGP*VWSNHLRG*
GPRSGALWGSRRRDWGSGWSHAKNGHHFWNTWQ
SLWLCWRVHRQHEFSD*HRTVLCCWLHLHHLSAT
HAAGWSPGVCADPEER*GTGASPPAPAQRQTHE
TDANGCRPPCCPLPQPHHPCAGCRCC*KHRSL*
*TNEQT*HLRASNQLPYGAPGRRAPTDCPHPSPH
TPDDELLP*ESASHMEASGAGTEASFLS*VQLL
QEATAF*SDE*KREVLFLRLEQVGICSGLSMTS
IISLNPRPLSYPDGLQSCLYM*IKLY*ILIYSKN
IVLEINSCLNG
Frame 2
RRMRSGHSRCILRRRRSRPEAAPGQGQRAFRLDFST*VPASFAAASAVLSAVMPSSSRCGDTTTEE
SLLQGLGTLLDPFLGFRGCGDQEKVRIPKSLPC
LDG*VASSPPRFFPQEPAYFLNMESVVRRCPFLS
RVPQAFLQKAGKSLLFYAQNCPKMMEVGAKPAP
RALSTAAVHYQQIKETPPASEKDKTAKAKVQQT
PDGSQQSPDGTQLPSGHPLPATSQGTASKCPFLA
AQMNQRGSSVFCKASLELQEDVQEMNAVRKEVA
ETSAGPSVVSVKTDGGDPSGLLKNFQDIMQKQR
PERVSHLLQDNLPKSVSTFQYDRFFEKKIDEKKN
DHTYRVFKTVNRRAHIFPMADDYSDSLITKKQV
SVWCSNDYLGMSRHPRVCGAVMDTLKQHGAGAG
GTRNISGTSKFHVDLERELADLHGKDAALLFSSC
FVANDSTLFTLAKMMPGCEIYSDSGNHASMIQG
IRNSRVPKYIFRHNDVSHLRELLQRSDPSVPKI
VAFETVHSMDGAVCPLEELCDVAHEFGAITFVDE
VHAVGLYGARGGGIGDRDGVMPKMDIISGTLGK
AFGCVGGYIASTSSLIDTVRSYAAGFIFTTSLP
PMLLAGALESVRILKSAEGRVLRRQHQRNVKLMR
QMLMDAGLPVVHCPSHIIPVRVADAAKNTEVCD
ELMSRHNIYVQAINYPTVPRGEELLRIAPTPHH
TPQMMNYFLENLLVTWKQVGLELKPHSSAECNFC
RRPLHFEVMSEREKSYFSGLSKLVSAQA*A*PQ
LFHLTPGHYHIQMVFRVVFICELSYIKF*SIVK
T*SWK*ILA*MV
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