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Sequences

Sequence BRCA1.jAug05

GTACCTTGATTTCGTATTCTGAGAGGCTGCTGCTTAGCGGTAGCCCCTTGGTTTCCGTGGCAACGGAAAAGCGCGGGAATTACAGATAAATTAAAACTGC
GACTGCGCGGCGTGAGCTCGCTGAGACTTCCTGGACGGGGGACAGGCTGTGGGGTTTCTCAGATAACTGGGCCCCTGCGCTCAGGAGGCCTTCACCCTCT
GCTCTGGGTAAAGTTCATTGGAACAGAAAGAAATGGATTTATCTGCTCTTCGCGTTGAAGAAGTACAAAATGTCATTAATGCTATGCAGAAAATCTTAGA
GTGTCCCATCTGTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAATTTTGCATGCTGAAACTTCTCAACCAGAAGAAA
GGGCCTTCACAGTGTCCTTTATGTAAGAATGATATAACCAAAAGGAGCCTACAAGAAAGTACGAGATTTAGTCAACTTGTTGAAGAGCTATTGAAAATCA
TTTGTGCTTTTCAGCTTGACACAGGTTTGGAGTATGCAAACAGCTATAATTTTGCAAAAAAGGAAAATAACTCTCCTGAACATCTAAAAGATGAAGTTTC
TATCATCCAAAGTATGGGCTACAGAAACCGTGCCAAAAGACTTCTACAGAGTGAACCCGAAAATCCTTCCTTGCAGGAAACCAGTCTCAGTGTCCAACTC
TCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAGACGTCTGTCTACATTGAATTGGGATCTGATTCTTCTGAAGATA
CCGTTAATAAGGCAACTTATTGCAGTGTGGGAGATCAAGAATTGTTACAAATCACCCCTCAAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAA
GGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGG
CATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTT
TATTACTCACTAAAGACAGAATGAATGTAGAAAAGGCTGAATTCTGTAATAAAAGCAAACAGCCTGGCTTAGCAAGGAGCCAACATAACAGATGGGCTGG
AAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAAGGTAGATCTGAATGCTGATCCCCTGTGTGAGAGAAAAGAATGGAATAAGCAG
AAACTGCCATGCTCAGAGAATCCTAGAGATACTGAAGATGTTCCTTGGATAACACTAAATAGCAGCATTCAGAAAGTTAATGAGTGGTTTTCCAGAAGTG
ATGAACTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGCCAAAGTAGCTGATGTATTGGACGTTCTAAATGAGGTAGATGAATATTC
TGGTTCTTCAGAGAAAATAGACTTACTGGCCAGTGATCCTCATGAGGCTTTAATATGTAAAAGTGAAAGAGTTCACTCCAAATCAGTAGAGAGTAATATT
GAAGACAAAATATTTGGGAAAACCTATCGGAAGAAGGCAAGCCTCCCCAACTTAAGCCATGTAACTGAAAATCTAATTATAGGAGCATTTGTTACTGAGC
CACAGATAATACAAGAGCGTCCCCTCACAAATAAATTAAAGCGTAAAAGGAGACCTACATCAGGCCTTCATCCTGAGGATTTTATCAAGAAAGCAGATTT
GGCAGTTCAAAAGACTCCTGAAATGATAAATCAGGGAACTAACCAAACGGAGCAGAATGGTCAAGTGATGAATATTACTAATAGTGGTCATGAGAATAAA
ACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCA
GTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTCATGCGCT
TGAACTAGTAGTCAGTAGAAATCTAAGCCCACCTAATTGTACTGAATTGCAAATTGATAGTTGTTCTAGCAGTGAAGAGATAAAGAAAAAAAAGTACAAC
CAAATGCCAGTCAGGCACAGCAGAAACCTACAACTCATGGAAGGTAAAGAACCTGCAACTGGAGCCAAGAAGAGTAACAAGCCAAATGAACAGACAAGTA
AAAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAA
TCCTAGCCTTCCAAGAGAAGAAAAAGAAGAGAAACTAGAAACAGTTAAAGTGTCTAATAATGCTGAAGACCCCAAAGATCTCATGTTAAGTGGAGAAAGG
GTTTTGCAAACTGAAAGATCTGTAGAGAGTAGCAGTATTTCATTGGTACCTGGTACTGATTATGGCACTCAGGAAAGTATCTCGTTACTGGAAGTTAGCA
CTCTAGGGAAGGCAAAAACAGAACCAAATAAATGTGTGAGTCAGTGTGCAGCATTTGAAAACCCCAAGGGACTAATTCATGGTTGTTCCAAAGATAATAG
AAATGACACAGAAGGCTTTAAGTATCCATTGGGACATGAAGTTAACCACAGTCGGGAAACAAGCATAGAAATGGAAGAAAGTGAACTTGATGCTCAGTAT
TTGCAGAATACATTCAAGGTTTCAAAGCGCCAGTCATTTGCTCCGTTTTCAAATCCAGGAAATGCAGAAGAGGAATGTGCAACATTCTCTGCCCACTCTG
GGTCCTTAAAGAAACAAAGTCCAAAAGTCACTTTTGAATGTGAACAAAAGGAAGAAAATCAAGGAAAGAATGAGTCTAATATCAAGCCTGTACAGACAGT
TAATATCACTGCAGGCTTTCCTGTGGTTGGTCAGAAAGATAAGCCAGTTGATAATGCCAAATGTAGTATCAAAGGAGGCTCTAGGTTTTGTCTATCATCT
CAGTTCAGAGGCAACGAAACTGGACTCATTACTCCAAATAAACATGGACTTTTACAAAACCCATATCGTATACCACCACTTTTTCCCATCAAGTCATTTG
TTAAAACTAAATGTAAGAAAAATCTGCTAGAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAACATTCCAAGTACAGT
GAGCACAATTAGCCGTAATAACATTAGAGAAAATGTTTTTAAAGAAGCCAGCTCAAGCAATATTAATGAAGTAGGTTCCAGTACTAATGAAGTGGGCTCC
AGTATTAATGAAATAGGTTCCAGTGATGAAAACATTCAAGCAGAACTAGGTAGAAACAGAGGGCCAAAATTGAATGCTATGCTTAGATTAGGGGTTTTGC
AACCTGAGGTCTATAAACAAAGTCTTCCTGGAAGTAATTGTAAGCATCCTGAAATAAAAAAGCAAGAATATGAAGAAGTAGTTCAGACTGTTAATACAGA
TTTCTCTCCATATCTGATTTCAGATAACTTAGAACAGCCTATGGGAAGTAGTCATGCATCTCAGGTTTGTTCTGAGACACCTGATGACCTGTTAGATGAT
GGTGAAATAAAGGAAGATACTAGTTTTGCTGAAAATGACATTAAGGAAAGTTCTGCTGTTTTTAGCAAAAGCGTCCAGAAAGGAGAGCTTAGCAGGAGTC
CTAGCCCTTTCACCCATACACATTTGGCTCAGGGTTACCGAAGAGGGGCCAAGAAATTAGAGTCCTCAGAAGAGAACTTATCTAGTGAGGATGAAGAGCT
TCCCTGCTTCCAACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCGAGTGTCTGTCTAAGAACACA
GAGGAGAATTTATTATCATTGAAGAATAGCTTAAATGACTGCAGTAACCAGGTAATATTGGCAAAGGCATCTCAGGAACATCACCTTAGTGAGGAAACAA
AATGTTCTGCTAGCTTGTTTTCTTCACAGTGCAGTGAATTGGAAGACTTGACTGCAAATACAAACACCCAGGATCCTTTCTTGATTGGTTCTTCCAAACA
AATGAGGCATCAGTCTGAAAGCCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAA
GAAGAGCAAAGCATGGATTCAAACTTAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTG
ACATTTTAACCACTCAGCAGAGGGATACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG
CCAGCCTTCTAACAGCTACCCTTCCATCATAAGTGACTCTTCTGCCCTTGAGGACCTGCGAAATCCAGAACAAAGCACATCAGAAAAAGCAGTATTAACT
TCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAAGTTTGAGGTGTCTGCAGATAGTTCTACCAGTAAAAATAAAG
AACCAGGAGTGGAAAGATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTGGGTGA
CCCAGTCTATTAAAGAAAGAAAAATGCTGAATGAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAG
AGAATCCCAGGACAGAAAGATCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGATCAACTGGAATGGATGGTACAGCTG
TGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGGTGTCCACCCAATTGTGGTTGTGCAGCCAGATGCCTGGACAGAGGACAATG
GCTTCCATGCAATTGGGCAGATGTGTGAGGCACCTGTGGTGACCCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTA
CCTGATACCCCAGATCCCCCACAGCCACTACTGACTGCAGCCAGCCACAGGTACAGAGCCACAGGACCCCAAGAATGAGCTTACAAAGTGGCCTTTCCAG
GCCCTGGGAGCTCCTCTCACTCTTCAGTCCTTCTACTGTCCTGGCTACTAAATATTTTATGTACATCAGCCTGAAAAGGACTTCTGGCTATGCAAGGGTC
CCTTAAAGATTTTCTGCTTGAAGTCTCCCTTGGAAATCTGCCATGAGCACAAAATTATGGTAATTTTTCACCTGAGAAGATTTTAAAACCATTTAAACGC
CACCAATTGAGCAAGATGCTGATTCATTATTTATCAGCCCTATTCTTTCTATTCAGGCTGTTGTTGGCTTAGGGCTGGAAGCACAGAGTGGCTTGGCCTC
AAGAGAATAGCTGGTTTCCCTAAGTTTACTTCTCTAAAACCCTGTGTTCACAAAGGCAGAGAGTCAGACCCTTCAATGGAAGGAGAGTGCTTGGGATCGA
TTATGTGACTTAAAGTCAGAATAGTCCTTGGGCAGTTCTCAAATGTTGGAGTGGAACATTGGGGAGGAAATTCTGAGGCAGGTATTAGAAATGAAAAGGA
AACTTGAAACCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTGGAGGTCAGGAGTTCGAAACCAGCCTG
GCCAACATGGTGAAACCCCATCTCTACTAAAAATACAGAAATTAGCCGGTCATGGTGGTGGACACCTGTAATCCCAGCTACTCAGGTGGCTAAGGCAGGA
GAATCACTTCAGCCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCATACCACGGCACTCCAGCCTGGGTGACAGTGAGACTGTGGCTCAAAAAAAAAAAA
AAAAAAAGGAAAATGAAACTAGAAGAGATTTCTAAAAGTCTGAGATATATTTGCTAGATTTCTAAAGAATGTGTTCTAAAACAGCAGAAGATTTTCAAGA
ACCGGTTTCCAAAGACAGTCTTCTAATTCCTCATTAGTAATAAGTAAAATGTTTATTGTTGTAGCTCTGGTATATAATCCATTCCTCTTAAAATATAAGA
CCTCTGGCATGAATATTTCATATCTATAAAATGACAGATCCCACCAGGAAGGAAGCTGTTGCTTTCTTTGAGGTGATTTTTTTCCTTTGCTCCCTGTTGC
TGAAACCATACAGCTTCATAAATAATTTTGCTTGCTGAAGGAAGAAAAAGTGTTTTTCATAAACCCATTATCCAGGACTGTTTATAGCTGTTGGAAGGAC
TAGGTCTTCCCTAGCCCCCCCAGTGTGCAAGGGCAGTGAAGACTTGATTGTACAAAATACGTTTTGTAAATGTTGTGCTGTTAACACTGCAAATAAACTT
GGTAGCAAACACTTCCA
  • BRCA1-F1 (forward primer)
  • BRCA1-10 (reverse primer)
  • Multiple exon skipping

Frame 0

VP*FRILRGCCLAVAPWFPWQRKSAGITDKLKL
RLRGVSSLRLPGRGTGCGVSQITGPLRSGGLHPL
LWVKFIGTERNGFICSSR*RSTKCH*CYAENLR
VSHLSGVDQGTCLHKV*PHILQILHAETSQPEE
RAFTVSFM*E*YNQKEPTRKYEI*STC*RAIENH
LCFSA*HRFGVCKQL*FCKKGK*LS*TSKR*SF
YHPKYGLQKPCQKTSTE*TRKSFLAGNQSQCPT
L*PWNCENSEDKAADTTSKDVCLH*IGI*FF*RY
R**GNLLQCGRSRIVTNHPSRNQG*NQFGFCKK
GCL*IF*DGCNKY*TSSTQ***FEHH*EACS*E
ASRKVSG*FCFKLACGAMWHKYSCQLITA*EQQF
ITH*RQNECRKG*IL**KQTAWLSKEPT*QMGW
K*GNM***ADSQHRKKGRSEC*SPV*EKRME*A
ETAMLRES*RY*RCSLDNTK*QHSES**VVFQK*
*TVRF**LT*WGV*IKCQSS*CIGRSK*GR*IF
WFFRENRLTGQ*SS*GFNM*K*KSSLQISRE*Y
*RQNIWENLSEEGKPPQLKPCN*KSNYRSICY*A
TDNTRASPHK*IKA*KETYIRPSS*GFYQESRF
GSSKDS*NDKSGN*PNGAEWSSDEYY**WS*E*
NKR*FYSE*EKS*PNRITRKRICFQNES*TYKQQ
YKQYGTRIKYPQFKST*KE*AEEEVFYQAYSCA
*TSSQ*KSKPT*LY*IAN**LF*Q*RDKEKKVQ
PNASQAQQKPTTHGR*RTCNWSQEE*QAK*TDK*
KT*QRYFPRAEVNKCTWFFY*VFKYQ*T*RICQ
S*PSKRRKRRETRNS*SV**C*RPQRSHVKWRK
GFAN*KICRE*QYFIGTWY*LWHSGKYLVTGS*H
SREGKNRTK*MCESVCSI*KPQGTNSWLFQR**
K*HRRL*VSIGT*S*PQSGNKHRNGRK*T*CSV
FAEYIQGFKAPVICSVFKSRKCRRGMCNILCPLW
VLKETKSKSHF*M*TKGRKSRKE*V*YQACTDS
*YHCRLSCGWSER*AS**CQM*YQRRL*VLSII
SVQRQRNWTHYSK*TWTFTKPISYTTTFSHQVIC
*N*M*EKSARGKL*GTFNVT*KRNGK*EHSKYS
EHN*P**H*RKCF*RSQLKQY**SRFQY**SGL
QY**NRFQ**KHSSRTR*KQRAKIECYA*IRGFA
T*GL*TKSSWK*L*AS*NKKARI*RSSSDC*YR
FLSISDFR*LRTAYGK*SCISGLF*DT**PVR*
W*NKGRY*FC*K*H*GKFCCF*QKRPERRA*QES
*PFHPYTFGSGLPKRGQEIRVLRRELI**G*RA
SLLPTLVIW*SKQYTFSVY*A*HRCYRVSV*EH
RGEFIIIEE*LK*LQ*PGNIGKGISGTSP**GNK
MFC*LVFFTVQ*IGRLDCKYKHPGSFLDWFFQT
NEASV*KPGSWSE*QGIGFR**RKRNGLGRK*S
RRAKHGFKLR*SSIWV*E*NKRL*RLLRAILSE*
HFNHSAEGYHAT*PDKAPAGNG*TRSCVRTAWE
PAF*QLPFHHK*LFCP*GPAKSRTKHIRKSSIN
FTEK**IPYKPESRRPFC*QV*GVCR*FYQ*K*R
TRSGKMLSLCVNGH*NIF*ELREENG*LAISG*
PSLLKKEKC*MSMILKSEEMWSMEETTKVQSEQ
ENPRTERSSGG*KSVAMGPSPTCPQINWNGWYSC
VVLLW*RSFHHSPLAQVSTQLWLCSQMPGQRTM
ASMQLGRCVRHLW*PESGCWTV*HSTSARSWTP
T*YPRSPTATTDCSQPQVQSHRTPRMSLQSGLSR
PWELLSLFSPSTVLATKYFMYISLKRTSGYARV
P*RFSA*SLPWKSAMSTKLW*FFT*EDFKTI*T
PPIEQDADSLFISPILSIQAVVGLGLEAQSGLAS
RE*LVSLSLLL*NPVFTKAESQTLQWKESAWDR
LCDLKSE*SLGSSQMLEWNIGEEILRQVLEMKR
KLETWAWWLTPVIPALWEAKVGRSLEVRSSKPAW
PTW*NPISTKNTEISRSWWWTPVIPATQVAKAG
ESLQPGRWRLQ*AKIIPRHSSLGDSETVAQKKK
KKKENETRRDF*KSEIYLLDF*RMCSKTAEDFQE
PVSKDSLLIPH***VKCLLL*LWYIIHSS*NIR
PLA*IFHIYKMTDPTRKEAVAFFEVIFFLCSLL
LKPYSFINNFAC*RKKKCFS*THYPGLFIAVGRT
RSSLAPPVCKGSEDLIVQNTFCKCCAVNTANKL
GSKHF

Frame 1

YLDFVF*EAAA*R*PLGFRGNGKARELQIN*NC
DCAA*AR*DFLDGGQAVGFLR*LGPCAQEAFTL
CSG*SSLEQKEMDLSALRVEEVQNVINAMQKILE
CPICLELIKEPVSTKCDHIFCKFCMLKLLNQKK
GPSQCPLCKNDITKRSLQESTRFSQLVEELLKI
ICAFQLDTGLEYANSYNFAKKENNSPEHLKDEVS
IIQSMGYRNRAKRLLQSEPENPSLQETSLSVQL
SNLGTVRTLRTKQRIQPQKTSVYIELGSDSSED
TVNKATYCSVGDQELLQITPQGTRDEISLDSAKK
AACEFSETDVTNTEHHQPSNNDLNTTEKRAAER
HPEKYQGSSVSNLHVEPCGTNTHASSLQHENSS
LLLTKDRMNVEKAEFCNKSKQPGLARSQHNRWAG
SKETCNDRRTPSTEKKVDLNADPLCERKEWNKQ
KLPCSENPRDTEDVPWITLNSSIQKVNEWFSRS
DELLGSDDSHDGESESNAKVADVLDVLNEVDEYS
GSSEKIDLLASDPHEALICKSERVHSKSVESNI
EDKIFGKTYRKKASLPNLSHVTENLIIGAFVTE
PQIIQERPLTNKLKRKRRPTSGLHPEDFIKKADL
AVQKTPEMINQGTNQTEQNGQVMNITNSGHENK
TKGDSIQNEKNPNPIESLEKESAFKTKAEPISS
SISNMELELNIHNSKAPKKNRLRRKSSTRHIHAL
ELVVSRNLSPPNCTELQIDSCSSSEEIKKKKYN
QMPVRHSRNLQLMEGKEPATGAKKSNKPNEQTS
KRHDSDTFPELKLTNAPGSFTKCSNTSELKEFVN
PSLPREEKEEKLETVKVSNNAEDPKDLMLSGER
VLQTERSVESSSISLVPGTDYGTQESISLLEVS
TLGKAKTEPNKCVSQCAAFENPKGLIHGCSKDNR
NDTEGFKYPLGHEVNHSRETSIEMEESELDAQY
LQNTFKVSKRQSFAPFSNPGNAEEECATFSAHS
GSLKKQSPKVTFECEQKEENQGKNESNIKPVQTV
NITAGFPVVGQKDKPVDNAKCSIKGGSRFCLSS
QFRGNETGLITPNKHGLLQNPYRIPPLFPIKSF
VKTKCKKNLLEENFEEHSMSPEREMGNENIPSTV
STISRNNIRENVFKEASSSNINEVGSSTNEVGS
SINEIGSSDENIQAELGRNRGPKLNAMLRLGVL
QPEVYKQSLPGSNCKHPEIKKQEYEEVVQTVNTD
FSPYLISDNLEQPMGSSHASQVCSETPDDLLDD
GEIKEDTSFAENDIKESSAVFSKSVQKGELSRS
PSPFTHTHLAQGYRRGAKKLESSEENLSSEDEEL
PCFQHLLFGKVNNIPSQSTRHSTVATECLSKNT
EENLLSLKNSLNDCSNQVILAKASQEHHLSEET
KCSASLFSSQCSELEDLTANTNTQDPFLIGSSKQ
MRHQSESQGVGLSDKELVSDDEERGTGLEENNQ
EEQSMDSNLGEAASGCESETSVSEDCSGLSSQS
DILTTQQRDTMQHNLIKLQQEMAELEAVLEQHGS
QPSNSYPSIISDSSALEDLRNPEQSTSEKAVLT
SQKSSEYPISQNPEGLSADKFEVSADSSTSKNK
EPGVERC*VCV*TDTEIFSRNCGRKMGS*LFLGD
PVY*RKKNAE*A*F*SQRRCGQWKKPPRSKASK
RIPGQKDLQGARNLLLWALHQHAHRSTGMDGTA
VWCFCGEGAFIIHPWHRCPPNCGCAARCLDRGQW
LPCNWADV*GTCGDPRVGVGQCSTLPVPGAGHL
PDTPDPPQPLLTAASHRYRATGPQE*AYKVAFP
GPGSSSHSSVLLLSWLLNILCTSA*KGLLAMQGS
LKDFLLEVSLGNLP*AQNYGNFSPEKILKPFKR
HQLSKMLIHYLSALFFLFRLLLA*GWKHRVAWP
QENSWFP*VYFSKTLCSQRQRVRPFNGRRVLGID
YVT*SQNSPWAVLKCWSGTLGRKF*GRY*K*KG
NLKPGHGGSRL*SQHFGRPRWADHWRSGVRNQP
GQHGETPSLLKIQKLAGHGGGHL*SQLLRWLRQE
NHFSPGGGGCSEPRSYHGTPAWVTVRLWLKKKK
KKRKMKLEEISKSLRYIC*ISKECVLKQQKIFK
NRFPKTVF*FLISNK*NVYCCSSGI*SIPLKI*D
LWHEYFISIK*QIPPGRKLLLSLR*FFSFAPCC
*NHTAS*IILLAEGRKSVFHKPIIQDCL*LLEG
LGLP*PPQCARAVKT*LYKIRFVNVVLLTLQINL
VANTS

Frame 2

TLISYSERLLLSGSPLVSVATEKRGNYR*IKTA
TARRELAETSWTGDRLWGFSDNWAPALRRPSPS
ALGKVHWNRKKWIYLLFALKKYKMSLMLCRKS*
SVPSVWS*SRNLSPQSVTTYFANFAC*NFSTRRK
GLHSVLYVRMI*PKGAYKKVRDLVNLLKSY*KS
FVLFSLTQVWSMQTAIILQKRKITLLNI*KMKF
LSSKVWATETVPKDFYRVNPKILPCRKPVSVSNS
LTLEL*EL*GQSSGYNLKRRLSTLNWDLILLKI
PLIRQLIAVWEIKNCYKSPLKEPGMKSVWILQK
RLLVNFLRRM*QILNIINPVIMI*TPLRSVQLRG
IQKSIRVVLFQTCMWSHVAQILMPAHYSMRTAV
YYSLKTE*M*KRLNSVIKANSLA*QGANITDGL
EVRKHVMIGGLPAQKKR*I*MLIPCVREKNGISR
NCHAQRILEILKMFLG*H*IAAFRKLMSGFPEV
MNC*VLMTHMMGSLNQMPK*LMYWTF*MR*MNI
LVLQRK*TYWPVILMRL*YVKVKEFTPNQ*RVIL
KTKYLGKPIGRRQASPT*AM*LKI*L*EHLLLS
HR*YKSVPSQIN*SVKGDLHQAFILRILSRKQI
WQFKRLLK**IRELTKRSRMVK**ILLIVVMRIK
QKVILFRMRKILTQ*NHSKKNLLSKRKLNL*AA
V*AIWNSN*ISTIQKHLKRIG*GGSLLPGIFMR
LN**SVEI*AHLIVLNCKLIVVLAVKR*RKKSTT
KCQSGTAETYNSWKVKNLQLEPRRVTSQMNRQV
KDMTAILSQS*S*QMHLVLLLSVQIPVNLKNLS
ILAFQEKKKKRN*KQLKCLIMLKTPKISC*VEKG
FCKLKDL*RVAVFHWYLVLIMALRKVSRYWKLA
L*GRQKQNQINV*VSVQHLKTPRD*FMVVPKII
EMTQKALSIHWDMKLTTVGKQA*KWKKVNLMLSI
CRIHSRFQSASHLLRFQIQEMQKRNVQHSLPTL
GP*RNKVQKSLLNVNKRKKIKERMSLISSLYRQ
LISLQAFLWLVRKISQLIMPNVVSKEALGFVYHL
SSEATKLDSLLQINMDFYKTHIVYHHFFPSSHL
LKLNVRKIC*RKTLRNIQCHLKEKWEMRTFQVQ
*AQLAVITLEKMFLKKPAQAILMK*VPVLMKWAP
VLMK*VPVMKTFKQN*VETEGQN*MLCLD*GFC
NLRSINKVFLEVIVSILK*KSKNMKK*FRLLIQ
ISLHI*FQIT*NSLWEVVMHLRFVLRHLMTC*MM
VK*RKILVLLKMTLRKVLLFLAKASRKESLAGV
LALSPIHIWLRVTEEGPRN*SPQKRTYLVRMKS
FPASNTCYLVK*TIYLLSLLGIAPLLPSVCLRTQ
RRIYYH*RIA*MTAVTR*YWQRHLRNITLVRKQ
NVLLACFLHSAVNWKT*LQIQTPRILS*LVLPN
K*GISLKARELV*VTRNWFQMMKKEERAWKKIIK
KSKAWIQT*VKQHLGVRVKQASLKTAQGYPLRV
TF*PLSRGIPCNIT**SSSRKWLN*KLC*NSMG
ASLLTATLPS*VTLLPLRTCEIQNKAHQKKQY*L
HRKVVNTL*ARIQKAFLLTSLRCLQIVLPVKIK
NQEWKDAEFVCERTLKYFLGIAGGKWVVSYFWV
TQSIKERKMLNEHDFEVRGDVVNGRNHQGPKRAR
ESQDRKIFRGLEICCYGPFTNMPTDQLEWMVQL
CGASVVKELSSFTLGTGVHPIVVVQPDAWTEDN
GFHAIGQMCEAPVVTREWVLDSVALYQCQELDTY
LIPQIPHSHY*LQPATGTEPQDPKNELTKWPFQ
ALGAPLTLQSFYCPGY*IFYVHQPEKDFWLCKG
PLKIFCLKSPLEICHEHKIMVIFHLRRF*NHLNA
TN*ARC*FIIYQPYSFYSGCCWLRAGSTEWLGL
KRIAGFPKFTSLKPCVHKGRESDPSMEGECLGS
IM*LKVRIVLGQFSNVGVEHWGGNSEAGIRNEKE
T*NLGMVAHACNPSTLGGQGGQITGGQEFETSL
ANMVKPHLY*KYRN*PVMVVDTCNPSYSGG*GR
RITSAREVEVAVSQDHTTALQPG*Q*DCGSKKKK
KKGK*N*KRFLKV*DIFARFLKNVF*NSRRFSR
TGFQRQSSNSSLVISKMFIVVALVYNPFLLKYK
TSGMNISYL*NDRSHQEGSCCFL*GDFFPLLPVA
ETIQLHK*FCLLKEEKVFFINPLSRTVYSCWKD
*VFPSPPSVQGQ*RLDCTKYVL*MLCC*HCK*T
W*QTLP

Sequence BRCA1.oAug05

GTACCTTGATTTCGTATTCTGAGAGGCTGCTGCTTAGCGGTAGCCCCTTGGTTTCCGTGGCAACGGAAAAGCGCGGGAATTACAGATAAATTAAAACTGC
GACTGCGCGGCGTGAGCTCGCTGAGACTTCCTGGACGGGGGACAGGCTGTGGGGTTTCTCAGATAACTGGGCCCCTGCGCTCAGGAGGCCTTCACCCTCT
GCTCTGGTTCATTGGAACAGAAAGAAATGGATTTATCTGCTCTTCGCGTTGAAGAAGTACAAAATGTCATTAATGCTATGCAGAAAATCTTAGAGTGTCC
CATCTGTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAATTTTGCATGCTGAAACTTCTCAACCAGAAGAAAGGGCCT
TCACAGTGTCCTTTATGTAAGAATGATATAACCAAAAGGAGCCTACAAGAAAGTACGAGATTTAGTCAACTTGTTGAAGAGCTATTGAAAATCATTTGTG
CTTTTCAGCTTGACACAGGTTTGGAGTATGCAAACAGCTATAATTTTGCAAAAAAGGAAAATAACTCTCCTGAACATCTAAAAGATGAAGTTTCTATCAT
CCAAAGTATGGGCTACAGAAACCGTGCCAAAAGACTTCTACAGAGTGAACCCGAAAATCCTTCCTTGCAGGAAACCAGTCTCAGTGTCCAACTCTCTAAC
CTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAGACGTCTGTCTACATTGAATTGGGATCTGATTCTTCTGAAGATACCGTTA
ATAAGGCAACTTATTGCAGTGTGGGAGATCAAGAATTGTTACAAATCACCCCTCAAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAGGCTGC
TTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCA
GAAAAGTATCAGGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTC
AGCAGAGGGATACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAACAG
CTACCCTTCCATC
ATAAGTGACTCTTCTGCCCTTGAGGACCTGCGAAATCCAGAACAAAGCACATCAGAAAAAGTATTAACTTCACAGAAAAGTAGTGAA
TACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAAGTTTGAGGTGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAGGT
CATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCAT
TAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGAGGGAACCCCT
TACCTGGAATCTGGAATCAGCCTCTTCTCTGATGACCCTGAATCTGATCCTTCTGAAGACAGAGCCCCAGAGTCAGCTCGTGTTGGCAACATACCATCTT
CAACCTCTGCATTGAAAGTTCCCCAATTGAAAGTTGCAGAATCTGCCCAGAGTCCAGCTGCTGCTCATACTACTGATACTGCTGGGTATAATGCAATGGA
AGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACAAAAGAATGTCCATGGTGGTGTCTGGCCTGACCCCAGAAGAATTT
ATGCTCGTGTACAAGTTTGCCAGAAAACACCACATCACTTTAACTAATCTAATTACTGAAGAGACTACTCATGTTGTTATGAAAACAG
ATGCTGAGTTTG
TGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTGGGTGACCCAGTCTATTAAAGAAAGAAAAATGCT
GAATGAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGATCTTCAGG
GGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGGGTGTCCACCCAATTGTGGTTGTGCAGCCAGATGCCTGGACAGAGGACAATGGC
TTCCATGCAATTGGGCAGATGTGTGAGGCACCTGTGGTGACCCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACC
TGATACCCCAGATCCCCCACAGCCACTACTGACTGCAGCCAGCCACAGGTACAGAGCCACAGGACCCCAAGAATGAGCTTACAAAGTGGCCTTTCCAGGC
CCTGGGAGCTCCTCTCACTCTTCAGTCCTTCTACTGTCCTGGCTACTAAATATTTTATGTACATCAGCCTGAAAAGGACTTCTGGCTATGCAAGGGTCCC
TTAAAGATTTTCTGCTTGAAGTCTCCCTTGGAAATCTGCCATGAGCACAAAATTATGGTAATTTTTCACCTGAGAAGATTTTAAAACCATTTAAACGCCA
CCAATTGAGCAAGATGCTGATTCATTATTTATCAGCCCTATTCTTTCTATTCAGGCTGTTGTTGGCTTAGGGCTGGAAGCACAGAGTGGCTTGGCCTCAA
GAGAATAGCTGGTTTCCCTAAGTTTACTTCTCTAAAACCCTGTGTTCACAAAGGCAGAGAGTCAGACCCTTCAATGGAAGGAGAGTGCTTGGGATCGATT
ATGTGACTTAAAGTCAGAATAGTCCTTGGGCAGTTCTCAAATGTTGGAGTGGAACATTGGGGAGGAAATTCTGAGGCAGGTATTAGAAATGAAAAGGAAA
CTTGAAACCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTGGAGGTCAGGAGTTCGAAACCAGCCTGGC
CAACATGGTGAAACCCCATCTCTACTAAAAATACAGAAATTAGCCGGTCATGGTGGTGGACACCTGTAATCCCAGCTACTCAGGTGGCTAAGGCAGGAGA
ATCACTTCAGCCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCATACCACGGCACTCCAGCCTGGGTGACAGTGAGACTGTGGCTCAAAAAAAAAAAAAA
AAAAAGGAAAATGAAACTAGAAGAGATTTCTAAAAGTCTGAGATATATTTGCTAGATTTCTAAAGAATGTGTTCTAAAACAGCAGAAGATTTTCAAGAAC
CGGTTTCCAAAGACAGTCTTCTAATTCCTCATTAGTAATAAGTAAAATGTTTATTGTTGTAGCTCTGGTATATAATCCATTCCTCTTAAAATATAAGACC
TCTGGCATGAATATTTCATATCTATAAAATGACAGATCCCACCAGGAAGGAAGCTGTTGCTTTCTTTGAGGTGATTTTTTTCCTTTGCTCCCTGTTGCTG
AAACCATACAGCTTCATAAATAATTTTGCTTGCTGAAGGAAGAAAAAGTGTTTTTCATAAACCCATTATCCAGGACTGTTTATAGCTGTTGGAAGGACTA
GGTCTTCCCTAGCCCCCCCAGTGTGCAAGGGCAGTGAAGACTTGATTGTACAAAATACGTTTTGTAAATGTTGTGCTGTTAACACTGCAAATAAACTTGG
TAGCAAACACTTCCA
  • BRCA1-F1 (forward primer)
  • BRCA1-10 (reverse primer)
  • Multiple exon skipping

Frame 0

VP*FRILRGCCLAVAPWFPWQRKSAGITDKLKL
RLRGVSSLRLPGRGTGCGVSQITGPLRSGGLHPL
LWFIGTERNGFICSSR*RSTKCH*CYAENLRVS
HLSGVDQGTCLHKV*PHILQILHAETSQPEERA
FTVSFM*E*YNQKEPTRKYEI*STC*RAIENHLC
FSA*HRFGVCKQL*FCKKGK*LS*TSKR*SFYH
PKYGLQKPCQKTSTE*TRKSFLAGNQSQCPTL*
PWNCENSEDKAADTTSKDVCLH*IGI*FF*RYR*
*GNLLQCGRSRIVTNHPSRNQG*NQFGFCKKGC
L*IF*DGCNKY*TSSTQ***FEHH*EACS*EAS
RKVSG*SSIWV*E*NKRL*RLLRAILSE*HFNHS
AEGYHAT*PDKAPAGNG*TRSCVRTAWEPAF*Q
LPFH
HK*LFCP*GPAKSRTKHIRKSINFTEK**
IPYKPESRRPFC*QV*GVCR*FYQ*K*RTRSGKV
IPF*MPIIR**VVHAQLLWESSE*KLPISRGAH
*GC*CGGATAGRVWATRFDGNILLAKARSRGNP
LPGIWNQPLL**P*I*SF*RQSPRVSSCWQHTIF
NLCIESSPIESCRICPESSCCSYY*YCWV*CNG
RKCEQGEARIDSFNRKGQQKNVHGGVWPDPRRI
YARVQVCQKTPHHFN*SNY*RDYSCCYENR
C*VC
V*TDTEIFSRNCGRKMGS*LFLGDPVY*RKKNA
E*A*F*SQRRCGQWKKPPRSKASKRIPGQKDLQ
GARNLLLWALHQHAHRVSTQLWLCSQMPGQRTMA
SMQLGRCVRHLW*PESGCWTV*HSTSARSWTPT
*YPRSPTATTDCSQPQVQSHRTPRMSLQSGLSR
PWELLSLFSPSTVLATKYFMYISLKRTSGYARVP
*RFSA*SLPWKSAMSTKLW*FFT*EDFKTI*TP
PIEQDADSLFISPILSIQAVVGLGLEAQSGLAS
RE*LVSLSLLL*NPVFTKAESQTLQWKESAWDRL
CDLKSE*SLGSSQMLEWNIGEEILRQVLEMKRK
LETWAWWLTPVIPALWEAKVGRSLEVRSSKPAW
PTW*NPISTKNTEISRSWWWTPVIPATQVAKAGE
SLQPGRWRLQ*AKIIPRHSSLGDSETVAQKKKK
KKENETRRDF*KSEIYLLDF*RMCSKTAEDFQE
PVSKDSLLIPH***VKCLLL*LWYIIHSS*NIRP
LA*IFHIYKMTDPTRKEAVAFFEVIFFLCSLLL
KPYSFINNFAC*RKKKCFS*THYPGLFIAVGRT
RSSLAPPVCKGSEDLIVQNTFCKCCAVNTANKLG
SKHF

Frame 1

YLDFVF*EAAA*R*PLGFRGNGKARELQIN*NC
DCAA*AR*DFLDGGQAVGFLR*LGPCAQEAFTL
CSGSLEQKEMDLSALRVEEVQNVINAMQKILECP
ICLELIKEPVSTKCDHIFCKFCMLKLLNQKKGP
SQCPLCKNDITKRSLQESTRFSQLVEELLKIIC
AFQLDTGLEYANSYNFAKKENNSPEHLKDEVSII
QSMGYRNRAKRLLQSEPENPSLQETSLSVQLSN
LGTVRTLRTKQRIQPQKTSVYIELGSDSSEDTV
NKATYCSVGDQELLQITPQGTRDEISLDSAKKAA
CEFSETDVTNTEHHQPSNNDLNTTEKRAAERHP
EKYQGEAASGCESETSVSEDCSGLSSQSDILTT
QQRDTMQHNLIKLQQEMAELEAVLEQHGSQPSNS
YPSI
ISDSSALEDLRNPEQSTSEKVLTSQKSSE
YPISQNPEGLSADKFEVSADSSTSKNKEPGVER
SSPSKCPSLDDRWYMHSCSGSLQNRNYPSQEELI
KVVDVEEQQLEESGPHDLTETSYLPRQDLEGTP
YLESGISLFSDDPESDPSEDRAPESARVGNIPS
STSALKVPQLKVAESAQSPAAAHTTDTAGYNAME
ESVSREKPELTASTERVNKRMSMVVSGLTPEEF
MLVYKFARKHHITLTNLITEETTHVVMKT
DAEF
VCERTLKYFLGIAGGKWVVSYFWVTQSIKERKML
NEHDFEVRGDVVNGRNHQGPKRARESQDRKIFR
GLEICCYGPFTNMPTGCPPNCGCAARCLDRGQW
LPCNWADV*GTCGDPRVGVGQCSTLPVPGAGHLP
DTPDPPQPLLTAASHRYRATGPQE*AYKVAFPG
PGSSSHSSVLLLSWLLNILCTSA*KGLLAMQGS
LKDFLLEVSLGNLP*AQNYGNFSPEKILKPFKRH
QLSKMLIHYLSALFFLFRLLLA*GWKHRVAWPQ
ENSWFP*VYFSKTLCSQRQRVRPFNGRRVLGID
YVT*SQNSPWAVLKCWSGTLGRKF*GRY*K*KGN
LKPGHGGSRL*SQHFGRPRWADHWRSGVRNQPG
QHGETPSLLKIQKLAGHGGGHL*SQLLRWLRQE
NHFSPGGGGCSEPRSYHGTPAWVTVRLWLKKKKK
KRKMKLEEISKSLRYIC*ISKECVLKQQKIFKN
RFPKTVF*FLISNK*NVYCCSSGI*SIPLKI*D
LWHEYFISIK*QIPPGRKLLLSLR*FFSFAPCC*
NHTAS*IILLAEGRKSVFHKPIIQDCL*LLEGL
GLP*PPQCARAVKT*LYKIRFVNVVLLTLQINL
VANTS

Frame 2

TLISYSERLLLSGSPLVSVATEKRGNYR*IKTA
TARRELAETSWTGDRLWGFSDNWAPALRRPSPS
ALVHWNRKKWIYLLFALKKYKMSLMLCRKS*SV
PSVWS*SRNLSPQSVTTYFANFAC*NFSTRRKGL
HSVLYVRMI*PKGAYKKVRDLVNLLKSY*KSFV
LFSLTQVWSMQTAIILQKRKITLLNI*KMKFLS
SKVWATETVPKDFYRVNPKILPCRKPVSVSNSLT
LEL*EL*GQSSGYNLKRRLSTLNWDLILLKIPL
IRQLIAVWEIKNCYKSPLKEPGMKSVWILQKRL
LVNFLRRM*QILNIINPVIMI*TPLRSVQLRGIQ
KSIRVKQHLGVRVKQASLKTAQGYPLRVTF*PL
SRGIPCNIT**SSSRKWLN*KLC*NSMGASLLT
ATLPS
*VTLLPLRTCEIQNKAHQKKY*LHRKVVN
TL*ARIQKAFLLTSLRCLQIVLPVKIKNQEWKG
HPLLNAHH*MIGGTCTVALGVFRIETTHLKRSS
LRLLMWRSNSWKSLGHTI*RKHLTCQGKI*REPL
TWNLESASSLMTLNLILLKTEPQSQLVLATYHL
QPLH*KFPN*KLQNLPRVQLLLILLILLGIMQW
KKV*AGRSQN*QLQQKGSTKECPWWCLA*PQKNL
CSCTSLPENTTSL*LI*LLKRLLMLL*KQ
MLSL
CVNGH*NIF*ELREENG*LAISG*PSLLKKEKC
*MSMILKSEEMWSMEETTKVQSEQENPRTERSSG
G*KSVAMGPSPTCPQGVHPIVVVQPDAWTEDNG
FHAIGQMCEAPVVTREWVLDSVALYQCQELDTY
LIPQIPHSHY*LQPATGTEPQDPKNELTKWPFQA
LGAPLTLQSFYCPGY*IFYVHQPEKDFWLCKGP
LKIFCLKSPLEICHEHKIMVIFHLRRF*NHLNA
TN*ARC*FIIYQPYSFYSGCCWLRAGSTEWLGLK
RIAGFPKFTSLKPCVHKGRESDPSMEGECLGSI
M*LKVRIVLGQFSNVGVEHWGGNSEAGIRNEKE
T*NLGMVAHACNPSTLGGQGGQITGGQEFETSLA
NMVKPHLY*KYRN*PVMVVDTCNPSYSGG*GRR
ITSAREVEVAVSQDHTTALQPG*Q*DCGSKKKK
KKGK*N*KRFLKV*DIFARFLKNVF*NSRRFSRT
GFQRQSSNSSLVISKMFIVVALVYNPFLLKYKT
SGMNISYL*NDRSHQEGSCCFL*GDFFPLLPVA
ETIQLHK*FCLLKEEKVFFINPLSRTVYSCWKD*
VFPSPPSVQGQ*RLDCTKYVL*MLCC*HCK*TW
*QTLP

Sequence BRCA1.lAug05

GTACCTTGATTTCGTATTCTGAGAGGCTGCTGCTTAGCGGTAGCCCCTTGGTTTCCGTGGCAACGGAAAAGCGCGGGAATTACAGATAAATTAAAACTGC
GACTGCGCGGCGTGAGCTCGCTGAGACTTCCTGGACGGGGGACAGGCTGTGGGGTTTCTCAGATAACTGGGCCCCTGCGCTCAGGAGGCCTTCACCCTCT
GCTCTGGGTAAAGTTCATTGGAACAGAAAGAAATGGATTTATCTGCTCTTCGCGTTGAAGAAGTACAAAATGTCATTAATGCTATGCAGAAAATCTTAGA
GTGTCCCATCTGTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAATTTTGCATGCTGAAACTTCTCAACCAGAAGAAA
GGGCCTTCACAGTGTCCTTTATGTAAGAATGATATAACCAAAAGGAGCCTACAAGAAAGTACGAGATTTAGTCAACTTGTTGAAGAGCTATTGAAAATCA
TTTGTGCTTTTCAGCTTGACACAGGTTTGGAGTATGCAAACAGCTATAATTTTGCAAAAAAGGAAAATAACTCTCCTGAACATCTAAAAGATGAAGTTTC
TATCATCCAAAGTATGGGCTACAGAAACCGTGCCAAAAGACTTCTACAGAGTGAACCCGAAAATCCTTCCTTGCAGGAAACCAGTCTCAGTGTCCAACTC
TCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAGACGTCTGTCTACATTGAATTGGGATCTGATTCTTCTGAAGATA
CCGTTAATAAGGCAACTTATTGCAGTGTGGGAGATCAAGAATTGTTACAAATCACCCCTCAAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAA
GGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGG
CATCCAGAAAAGTATCAGGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAA
CCACTCAGCAGAGGGATACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTC
TAACAGCTACCCTTCCATC
ATAAGTGACTCTTCTGCCCTTGAGGACCTGCGAAATCCAGAACAAAGCACATCAGAAAAAGTATTAACTTCACAGAAAAGT
AGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAAGTTTGAGGTGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGG
AAAGGTCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGA
GCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGAGGGA
ACCCCTTACCTGGAATCTGGAATCAGCCTCTTCTCTGATGACCCTGAATCTGATCCTTCTGAAGACAGAGCCCCAGAGTCAGCTCGTGTTGGCAACATAC
CATCTTCAACCTCTGCATTGAAAGTTCCCCAATTGAAAGTTGCAGAATCTGCCCAGAGTCCAGCTGCTGCTCATACTACTGATACTGCTGGGTATAATGC
AATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACAAAAGAATGTCCATGGTGGTGTCTGGCCTGACCCCAGAA
GAATTTATGCTCGTGTACAAGTTTGCCAGAAAACACCACATCACTTTAACTAATCTAATTACTGAAGAGACTACTCATGTTGTTATGAAAACAG
ATGCTG
AGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTGGGTGACCCAGTCTATTAAAGAAAGAAA
AATGCTGAATGAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGATC
TTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGG
AGCTTTCATCATTCACCCTTGGCACAGGTGTCCACCCAATTGTGGTTGTGCAGCCAGATGCCTGGACAGAGGACAATGGCTTCCATGCAATTGGGCAGAT
GTGTGAGGCACCTGTGGTGACCCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATACCCCAGATCCCCCAC
AGCCACTACTGACTGCAGCCAGCCACAGGTACAGAGCCACAGGACCCCAAGAATGAGCTTACAAAGTGGCCTTTCCAGGCCCTGGGAGCTCCTCTCACTC
TTCAGTCCTTCTACTGTCCTGGCTACTAAATATTTTATGTACATCAGCCTGAAAAGGACTTCTGGCTATGCAAGGGTCCCTTAAAGATTTTCTGCTTGAA
GTCTCCCTTGGAAATCTGCCATGAGCACAAAATTATGGTAATTTTTCACCTGAGAAGATTTTAAAACCATTTAAACGCCACCAATTGAGCAAGATGCTGA
TTCATTATTTATCAGCCCTATTCTTTCTATTCAGGCTGTTGTTGGCTTAGGGCTGGAAGCACAGAGTGGCTTGGCCTCAAGAGAATAGCTGGTTTCCCTA
AGTTTACTTCTCTAAAACCCTGTGTTCACAAAGGCAGAGAGTCAGACCCTTCAATGGAAGGAGAGTGCTTGGGATCGATTATGTGACTTAAAGTCAGAAT
AGTCCTTGGGCAGTTCTCAAATGTTGGAGTGGAACATTGGGGAGGAAATTCTGAGGCAGGTATTAGAAATGAAAAGGAAACTTGAAACCTGGGCATGGTG
GCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTGGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATC
TCTACTAAAAATACAGAAATTAGCCGGTCATGGTGGTGGACACCTGTAATCCCAGCTACTCAGGTGGCTAAGGCAGGAGAATCACTTCAGCCCGGGAGGT
GGAGGTTGCAGTGAGCCAAGATCATACCACGGCACTCCAGCCTGGGTGACAGTGAGACTGTGGCTCAAAAAAAAAAAAAAAAAAAGGAAAATGAAACTAG
AAGAGATTTCTAAAAGTCTGAGATATATTTGCTAGATTTCTAAAGAATGTGTTCTAAAACAGCAGAAGATTTTCAAGAACCGGTTTCCAAAGACAGTCTT
CTAATTCCTCATTAGTAATAAGTAAAATGTTTATTGTTGTAGCTCTGGTATATAATCCATTCCTCTTAAAATATAAGACCTCTGGCATGAATATTTCATA
TCTATAAAATGACAGATCCCACCAGGAAGGAAGCTGTTGCTTTCTTTGAGGTGATTTTTTTCCTTTGCTCCCTGTTGCTGAAACCATACAGCTTCATAAA
TAATTTTGCTTGCTGAAGGAAGAAAAAGTGTTTTTCATAAACCCATTATCCAGGACTGTTTATAGCTGTTGGAAGGACTAGGTCTTCCCTAGCCCCCCCA
GTGTGCAAGGGCAGTGAAGACTTGATTGTACAAAATACGTTTTGTAAATGTTGTGCTGTTAACACTGCAAATAAACTTGGTAGCAAACACTTCCA
  • BRCA1-F1 (forward primer)
  • BRCA1-10 (reverse primer)
  • Multiple exon skipping

Frame 0

VP*FRILRGCCLAVAPWFPWQRKSAGITDKLKL
RLRGVSSLRLPGRGTGCGVSQITGPLRSGGLHPL
LWVKFIGTERNGFICSSR*RSTKCH*CYAENLR
VSHLSGVDQGTCLHKV*PHILQILHAETSQPEE
RAFTVSFM*E*YNQKEPTRKYEI*STC*RAIENH
LCFSA*HRFGVCKQL*FCKKGK*LS*TSKR*SF
YHPKYGLQKPCQKTSTE*TRKSFLAGNQSQCPT
L*PWNCENSEDKAADTTSKDVCLH*IGI*FF*RY
R**GNLLQCGRSRIVTNHPSRNQG*NQFGFCKK
GCL*IF*DGCNKY*TSSTQ***FEHH*EACS*E
ASRKVSG*SSIWV*E*NKRL*RLLRAILSE*HFN
HSAEGYHAT*PDKAPAGNG*TRSCVRTAWEPAF
*QLPFH
HK*LFCP*GPAKSRTKHIRKSINFTEK
**IPYKPESRRPFC*QV*GVCR*FYQ*K*RTRSG
KVIPF*MPIIR**VVHAQLLWESSE*KLPISRG
AH*GC*CGGATAGRVWATRFDGNILLAKARSRG
NPLPGIWNQPLL**P*I*SF*RQSPRVSSCWQHT
IFNLCIESSPIESCRICPESSCCSYY*YCWV*C
NGRKCEQGEARIDSFNRKGQQKNVHGGVWPDPR
RIYARVQVCQKTPHHFN*SNY*RDYSCCYENR
C*
VCV*TDTEIFSRNCGRKMGS*LFLGDPVY*RKK
NAE*A*F*SQRRCGQWKKPPRSKASKRIPGQKD
LQGARNLLLWALHQHAHRSTGMDGTAVWCFCGEG
AFIIHPWHRCPPNCGCAARCLDRGQWLPCNWAD
V*GTCGDPRVGVGQCSTLPVPGAGHLPDTPDPP
QPLLTAASHRYRATGPQE*AYKVAFPGPGSSSHS
SVLLLSWLLNILCTSA*KGLLAMQGSLKDFLLE
VSLGNLP*AQNYGNFSPEKILKPFKRHQLSKML
IHYLSALFFLFRLLLA*GWKHRVAWPQENSWFP*
VYFSKTLCSQRQRVRPFNGRRVLGIDYVT*SQN
SPWAVLKCWSGTLGRKF*GRY*K*KGNLKPGHG
GSRL*SQHFGRPRWADHWRSGVRNQPGQHGETPS
LLKIQKLAGHGGGHL*SQLLRWLRQENHFSPGG
GGCSEPRSYHGTPAWVTVRLWLKKKKKKRKMKL
EEISKSLRYIC*ISKECVLKQQKIFKNRFPKTVF
*FLISNK*NVYCCSSGI*SIPLKI*DLWHEYFI
SIK*QIPPGRKLLLSLR*FFSFAPCC*NHTAS*
IILLAEGRKSVFHKPIIQDCL*LLEGLGLP*PPQ
CARAVKT*LYKIRFVNVVLLTLQINLVANTS

Frame 1

YLDFVF*EAAA*R*PLGFRGNGKARELQIN*NC
DCAA*AR*DFLDGGQAVGFLR*LGPCAQEAFTL
CSG*SSLEQKEMDLSALRVEEVQNVINAMQKILE
CPICLELIKEPVSTKCDHIFCKFCMLKLLNQKK
GPSQCPLCKNDITKRSLQESTRFSQLVEELLKI
ICAFQLDTGLEYANSYNFAKKENNSPEHLKDEVS
IIQSMGYRNRAKRLLQSEPENPSLQETSLSVQL
SNLGTVRTLRTKQRIQPQKTSVYIELGSDSSED
TVNKATYCSVGDQELLQITPQGTRDEISLDSAKK
AACEFSETDVTNTEHHQPSNNDLNTTEKRAAER
HPEKYQGEAASGCESETSVSEDCSGLSSQSDIL
TTQQRDTMQHNLIKLQQEMAELEAVLEQHGSQPS
NSYPSI
ISDSSALEDLRNPEQSTSEKVLTSQKS
SEYPISQNPEGLSADKFEVSADSSTSKNKEPGV
ERSSPSKCPSLDDRWYMHSCSGSLQNRNYPSQEE
LIKVVDVEEQQLEESGPHDLTETSYLPRQDLEG
TPYLESGISLFSDDPESDPSEDRAPESARVGNI
PSSTSALKVPQLKVAESAQSPAAAHTTDTAGYNA
MEESVSREKPELTASTERVNKRMSMVVSGLTPE
EFMLVYKFARKHHITLTNLITEETTHVVMKT
DA
EFVCERTLKYFLGIAGGKWVVSYFWVTQSIKERK
MLNEHDFEVRGDVVNGRNHQGPKRARESQDRKI
FRGLEICCYGPFTNMPTDQLEWMVQLCGASVVK
ELSSFTLGTGVHPIVVVQPDAWTEDNGFHAIGQM
CEAPVVTREWVLDSVALYQCQELDTYLIPQIPH
SHY*LQPATGTEPQDPKNELTKWPFQALGAPLT
LQSFYCPGY*IFYVHQPEKDFWLCKGPLKIFCLK
SPLEICHEHKIMVIFHLRRF*NHLNATN*ARC*
FIIYQPYSFYSGCCWLRAGSTEWLGLKRIAGFP
KFTSLKPCVHKGRESDPSMEGECLGSIM*LKVRI
VLGQFSNVGVEHWGGNSEAGIRNEKET*NLGMV
AHACNPSTLGGQGGQITGGQEFETSLANMVKPH
LY*KYRN*PVMVVDTCNPSYSGG*GRRITSAREV
EVAVSQDHTTALQPG*Q*DCGSKKKKKKGK*N*
KRFLKV*DIFARFLKNVF*NSRRFSRTGFQRQS
SNSSLVISKMFIVVALVYNPFLLKYKTSGMNISY
L*NDRSHQEGSCCFL*GDFFPLLPVAETIQLHK
*FCLLKEEKVFFINPLSRTVYSCWKD*VFPSPP
SVQGQ*RLDCTKYVL*MLCC*HCK*TW*QTLP

Frame 2

TLISYSERLLLSGSPLVSVATEKRGNYR*IKTA
TARRELAETSWTGDRLWGFSDNWAPALRRPSPS
ALGKVHWNRKKWIYLLFALKKYKMSLMLCRKS*
SVPSVWS*SRNLSPQSVTTYFANFAC*NFSTRRK
GLHSVLYVRMI*PKGAYKKVRDLVNLLKSY*KS
FVLFSLTQVWSMQTAIILQKRKITLLNI*KMKF
LSSKVWATETVPKDFYRVNPKILPCRKPVSVSNS
LTLEL*EL*GQSSGYNLKRRLSTLNWDLILLKI
PLIRQLIAVWEIKNCYKSPLKEPGMKSVWILQK
RLLVNFLRRM*QILNIINPVIMI*TPLRSVQLRG
IQKSIRVKQHLGVRVKQASLKTAQGYPLRVTF*
PLSRGIPCNIT**SSSRKWLN*KLC*NSMGASL
LTATLPS
*VTLLPLRTCEIQNKAHQKKY*LHRKV
VNTL*ARIQKAFLLTSLRCLQIVLPVKIKNQEW
KGHPLLNAHH*MIGGTCTVALGVFRIETTHLKR
SSLRLLMWRSNSWKSLGHTI*RKHLTCQGKI*RE
PLTWNLESASSLMTLNLILLKTEPQSQLVLATY
HLQPLH*KFPN*KLQNLPRVQLLLILLILLGIM
QWKKV*AGRSQN*QLQQKGSTKECPWWCLA*PQK
NLCSCTSLPENTTSL*LI*LLKRLLMLL*KQ
ML
SLCVNGH*NIF*ELREENG*LAISG*PSLLKKE
KC*MSMILKSEEMWSMEETTKVQSEQENPRTERS
SGG*KSVAMGPSPTCPQINWNGWYSCVVLLW*R
SFHHSPLAQVSTQLWLCSQMPGQRTMASMQLGR
CVRHLW*PESGCWTV*HSTSARSWTPT*YPRSPT
ATTDCSQPQVQSHRTPRMSLQSGLSRPWELLSL
FSPSTVLATKYFMYISLKRTSGYARVP*RFSA*
SLPWKSAMSTKLW*FFT*EDFKTI*TPPIEQDAD
SLFISPILSIQAVVGLGLEAQSGLASRE*LVSL
SLLL*NPVFTKAESQTLQWKESAWDRLCDLKSE
*SLGSSQMLEWNIGEEILRQVLEMKRKLETWAWW
LTPVIPALWEAKVGRSLEVRSSKPAWPTW*NPI
STKNTEISRSWWWTPVIPATQVAKAGESLQPGR
WRLQ*AKIIPRHSSLGDSETVAQKKKKKKENETR
RDF*KSEIYLLDF*RMCSKTAEDFQEPVSKDSL
LIPH***VKCLLL*LWYIIHSS*NIRPLA*IFH
IYKMTDPTRKEAVAFFEVIFFLCSLLLKPYSFIN
NFAC*RKKKCFS*THYPGLFIAVGRTRSSLAPP
VCKGSEDLIVQNTFCKCCAVNTANKLGSKHF

Sequence BRCA1.pAug05

GTACCTTGATTTCGTATTCTGAGAGGCTGCTGCTTAGCGGTAGCCCCTTGGTTTCCGTGGCAACGGAAAAGCGCGGGAATTACAGATAAATTAAAACTGC
GACTGCGCGGCGTGAGCTCGCTGAGACTTCCTGGACGGGGGACAGGCTGTGGGGTTTCTCAGATAACTGGGCCCCTGCGCTCAGGAGGCCTTCACCCTCT
GCTCTGGGTAAAGTTCATTGGAACAGAAAGAAATGGATTTATCTGCTCTTCGCGTTGAAGAAGTACAAAATGTCATTAATGCTATGCAGAAAATCTTAGA
GTGTCCCATCTGTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAATTTTGCATGCTGAAACTTCTCAACCAGAAGAAA
GGGCCTTCACAGTGTCCTTTATGTAAGAATGATATAACCAAAAGGAGCCTACAAGAAAGTACGAGATTTAGTCAACTTGTTGAAGAGCTATTGAAAATCA
TTTGTGCTTTTCAGCTTGACACAGGTTTGGAGTATGCAAACAGCTATAATTTTGCAAAAAAGGAAAATAACTCTCCTGAACATCTAAAAGATGAAGTTTC
TATCATCCAAAGTATGGGCTACAGAAACCGTGCCAAAAGACTTCTACAGAGTGAACCCGAAAATCCTTCCTTGCAGGAAACCAGTCTCAGTGTCCAACTC
TCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAGACGTCTGTCTACATTGAATTGGGTGAAGCAGCATCTGGGTGTG
AGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGCAGAGGGATACCATGCAACATAACCTGATAAA
GCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAACAGCTACCCTTCCATCATAAGTGACTCTTCTGCCCTT
GAGGACCTGCGAAATCCAGAACAAAGCACATCAGAAAAAGCAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTT
CTGCTGACAAGTTTGAGGTGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAGGTCATCCCCTTCTAAATGCCCATCATTAGATGA
TAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTG
GAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGAGGGAACCCCTTACCTGGAATCTGGAATCAGCCTCTTCTCTG
ATGACCCTGAATCTGATCCTTCTGAAGACAGAGCCCCAGAGTCAGCTCGTGTTGGCAACATACCATCTTCAACCTCTGCATTGAAAGTTCCCCAATTGAA
AGTTGCAGAATCTGCCCAGAGTCCAGCTGCTGCTCATACTACTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTG
ACAGCTTCAACAGAAAGGGTCAACAAAAGAATGTCCATGGTGGTGTCTGGCCTGACCCCAGAAGAATTTATGCTCGTGTACAAGTTTGCCAGAAAACACC
ACATCACTTTAACTAATCTAATTACTGAAGAGACTACTCATGTTGTTATGAAAACAG
ATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGG
AATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTGGGTGACCCAGTCTATTAAAGAAAGAAAAATGCTGAATGAGCATGATTTTGAAGTCAGAGGAGAT
GTGGT
CAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGATCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCA
CCAACATGCCCACAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGGTGTCCACCC
AATTGTGGTTGTGCAGCCAGATGCCTGGACAGAGGACAATGGCTTCCATGCAATTGGGCAGATGTGTGAGGCACCTGTGGTGACCCGAGAGTGGGTGTTG
GACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATACCCCAGATCCCCCACAGCCACTACTGACTGCAGCCAGCCACAGGTACAGAGC
CACAGGACCCCAAGAATGAGCTTACAAAGTGGCCTTTCCAGGCCCTGGGAGCTCCTCTCACTCTTCAGTCCTTCTACTGTCCTGGCTACTAAATATTTTA
TGTACATCAGCCTGAAAAGGACTTCTGGCTATGCAAGGGTCCCTTAAAGATTTTCTGCTTGAAGTCTCCCTTGGAAATCTGCCATGAGCACAAAATTATG
GTAATTTTTCACCTGAGAAGATTTTAAAACCATTTAAACGCCACCAATTGAGCAAGATGCTGATTCATTATTTATCAGCCCTATTCTTTCTATTCAGGCT
GTTGTTGGCTTAGGGCTGGAAGCACAGAGTGGCTTGGCCTCAAGAGAATAGCTGGTTTCCCTAAGTTTACTTCTCTAAAACCCTGTGTTCACAAAGGCAG
AGAGTCAGACCCTTCAATGGAAGGAGAGTGCTTGGGATCGATTATGTGACTTAAAGTCAGAATAGTCCTTGGGCAGTTCTCAAATGTTGGAGTGGAACAT
TGGGGAGGAAATTCTGAGGCAGGTATTAGAAATGAAAAGGAAACTTGAAACCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAG
GTGGGCAGATCACTGGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAGAAATTAGCCGGTCATGGTGGT
GGACACCTGTAATCCCAGCTACTCAGGTGGCTAAGGCAGGAGAATCACTTCAGCCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCATACCACGGCACTC
CAGCCTGGGTGACAGTGAGACTGTGGCTCAAAAAAAAAAAAAAAAAAAGGAAAATGAAACTAGAAGAGATTTCTAAAAGTCTGAGATATATTTGCTAGAT
TTCTAAAGAATGTGTTCTAAAACAGCAGAAGATTTTCAAGAACCGGTTTCCAAAGACAGTCTTCTAATTCCTCATTAGTAATAAGTAAAATGTTTATTGT
TGTAGCTCTGGTATATAATCCATTCCTCTTAAAATATAAGACCTCTGGCATGAATATTTCATATCTATAAAATGACAGATCCCACCAGGAAGGAAGCTGT
TGCTTTCTTTGAGGTGATTTTTTTCCTTTGCTCCCTGTTGCTGAAACCATACAGCTTCATAAATAATTTTGCTTGCTGAAGGAAGAAAAAGTGTTTTTCA
TAAACCCATTATCCAGGACTGTTTATAGCTGTTGGAAGGACTAGGTCTTCCCTAGCCCCCCCAGTGTGCAAGGGCAGTGAAGACTTGATTGTACAAAATA
CGTTTTGTAAATGTTGTGCTGTTAACACTGCAAATAAACTTGGTAGCAAACACTTCCA
  • BRCA1-F1 (forward primer)
  • BRCA1-10 (reverse primer)
  • Multiple exon skipping

Frame 0

VP*FRILRGCCLAVAPWFPWQRKSAGITDKLKL
RLRGVSSLRLPGRGTGCGVSQITGPLRSGGLHPL
LWVKFIGTERNGFICSSR*RSTKCH*CYAENLR
VSHLSGVDQGTCLHKV*PHILQILHAETSQPEE
RAFTVSFM*E*YNQKEPTRKYEI*STC*RAIENH
LCFSA*HRFGVCKQL*FCKKGK*LS*TSKR*SF
YHPKYGLQKPCQKTSTE*TRKSFLAGNQSQCPT
L*PWNCENSEDKAADTTSKDVCLH*IG*SSIWV*
E*NKRL*RLLRAILSE*HFNHSAEGYHAT*PDK
APAGNG*TRSCVRTAWEPAF*QLPFHHK*LFCP
*GPAKSRTKHIRKSSINFTEK**IPYKPESRRPF
C*QV*GVCR*FYQ*K*RTRSGKVIPF*MPIIR*
*VVHAQLLWESSE*KLPISRGAH*GC*CGGATA
GRVWATRFDGNILLAKARSRGNPLPGIWNQPLL*
*P*I*SF*RQSPRVSSCWQHTIFNLCIESSPIE
SCRICPESSCCSYY*YCWV*CNGRKCEQGEARI
DSFNRKGQQKNVHGGVWPDPRRIYARVQVCQKTP
HHFN*SNY*RDYSCCYENR
C*VCV*TDTEIFSR
NCGRKMGS*LFLGDPVY*RKKNAE*A*F*SQRR
CG
QWKKPPRSKASKRIPGQKDLQGARNLLLWALH
QHAHRSTGMDGTAVWCFCGEGAFIIHPWHRCPP
NCGCAARCLDRGQWLPCNWADV*GTCGDPRVGV
GQCSTLPVPGAGHLPDTPDPPQPLLTAASHRYRA
TGPQE*AYKVAFPGPGSSSHSSVLLLSWLLNIL
CTSA*KGLLAMQGSLKDFLLEVSLGNLP*AQNY
GNFSPEKILKPFKRHQLSKMLIHYLSALFFLFRL
LLA*GWKHRVAWPQENSWFP*VYFSKTLCSQRQ
RVRPFNGRRVLGIDYVT*SQNSPWAVLKCWSGT
LGRKF*GRY*K*KGNLKPGHGGSRL*SQHFGRPR
WADHWRSGVRNQPGQHGETPSLLKIQKLAGHGG
GHL*SQLLRWLRQENHFSPGGGGCSEPRSYHGT
PAWVTVRLWLKKKKKKRKMKLEEISKSLRYIC*I
SKECVLKQQKIFKNRFPKTVF*FLISNK*NVYC
CSSGI*SIPLKI*DLWHEYFISIK*QIPPGRKL
LLSLR*FFSFAPCC*NHTAS*IILLAEGRKSVFH
KPIIQDCL*LLEGLGLP*PPQCARAVKT*LYKI
RFVNVVLLTLQINLVANTS

Frame 1

YLDFVF*EAAA*R*PLGFRGNGKARELQIN*NC
DCAA*AR*DFLDGGQAVGFLR*LGPCAQEAFTL
CSG*SSLEQKEMDLSALRVEEVQNVINAMQKILE
CPICLELIKEPVSTKCDHIFCKFCMLKLLNQKK
GPSQCPLCKNDITKRSLQESTRFSQLVEELLKI
ICAFQLDTGLEYANSYNFAKKENNSPEHLKDEVS
IIQSMGYRNRAKRLLQSEPENPSLQETSLSVQL
SNLGTVRTLRTKQRIQPQKTSVYIELGEAASGC
ESETSVSEDCSGLSSQSDILTTQQRDTMQHNLIK
LQQEMAELEAVLEQHGSQPSNSYPSIISDSSAL
EDLRNPEQSTSEKAVLTSQKSSEYPISQNPEGL
SADKFEVSADSSTSKNKEPGVERSSPSKCPSLDD
RWYMHSCSGSLQNRNYPSQEELIKVVDVEEQQL
EESGPHDLTETSYLPRQDLEGTPYLESGISLFS
DDPESDPSEDRAPESARVGNIPSSTSALKVPQLK
VAESAQSPAAAHTTDTAGYNAMEESVSREKPEL
TASTERVNKRMSMVVSGLTPEEFMLVYKFARKH
HITLTNLITEETTHVVMKT
DAEFVCERTLKYFLG
IAGGKWVVSYFWVTQSIKERKMLNEHDFEVRGD
VV
NGRNHQGPKRARESQDRKIFRGLEICCYGPF
TNMPTDQLEWMVQLCGASVVKELSSFTLGTGVHP
IVVVQPDAWTEDNGFHAIGQMCEAPVVTREWVL
DSVALYQCQELDTYLIPQIPHSHY*LQPATGTE
PQDPKNELTKWPFQALGAPLTLQSFYCPGY*IFY
VHQPEKDFWLCKGPLKIFCLKSPLEICHEHKIM
VIFHLRRF*NHLNATN*ARC*FIIYQPYSFYSG
CCWLRAGSTEWLGLKRIAGFPKFTSLKPCVHKGR
ESDPSMEGECLGSIM*LKVRIVLGQFSNVGVEH
WGGNSEAGIRNEKET*NLGMVAHACNPSTLGGQ
GGQITGGQEFETSLANMVKPHLY*KYRN*PVMVV
DTCNPSYSGG*GRRITSAREVEVAVSQDHTTAL
QPG*Q*DCGSKKKKKKGK*N*KRFLKV*DIFAR
FLKNVF*NSRRFSRTGFQRQSSNSSLVISKMFIV
VALVYNPFLLKYKTSGMNISYL*NDRSHQEGSC
CFL*GDFFPLLPVAETIQLHK*FCLLKEEKVFF
INPLSRTVYSCWKD*VFPSPPSVQGQ*RLDCTKY
VL*MLCC*HCK*TW*QTLP

Frame 2

TLISYSERLLLSGSPLVSVATEKRGNYR*IKTA
TARRELAETSWTGDRLWGFSDNWAPALRRPSPS
ALGKVHWNRKKWIYLLFALKKYKMSLMLCRKS*
SVPSVWS*SRNLSPQSVTTYFANFAC*NFSTRRK
GLHSVLYVRMI*PKGAYKKVRDLVNLLKSY*KS
FVLFSLTQVWSMQTAIILQKRKITLLNI*KMKF
LSSKVWATETVPKDFYRVNPKILPCRKPVSVSNS
LTLEL*EL*GQSSGYNLKRRLSTLNWVKQHLGV
RVKQASLKTAQGYPLRVTF*PLSRGIPCNIT**
SSSRKWLN*KLC*NSMGASLLTATLPS*VTLLPL
RTCEIQNKAHQKKQY*LHRKVVNTL*ARIQKAF
LLTSLRCLQIVLPVKIKNQEWKGHPLLNAHH*M
IGGTCTVALGVFRIETTHLKRSSLRLLMWRSNSW
KSLGHTI*RKHLTCQGKI*REPLTWNLESASSL
MTLNLILLKTEPQSQLVLATYHLQPLH*KFPN*
KLQNLPRVQLLLILLILLGIMQWKKV*AGRSQN*
QLQQKGSTKECPWWCLA*PQKNLCSCTSLPENT
TSL*LI*LLKRLLMLL*KQ
MLSLCVNGH*NIF*
ELREENG*LAISG*PSLLKKEKC*MSMILKSEEM
W
SMEETTKVQSEQENPRTERSSGG*KSVAMGPS
PTCPQINWNGWYSCVVLLW*RSFHHSPLAQVST
QLWLCSQMPGQRTMASMQLGRCVRHLW*PESGCW
TV*HSTSARSWTPT*YPRSPTATTDCSQPQVQS
HRTPRMSLQSGLSRPWELLSLFSPSTVLATKYF
MYISLKRTSGYARVP*RFSA*SLPWKSAMSTKLW
*FFT*EDFKTI*TPPIEQDADSLFISPILSIQA
VVGLGLEAQSGLASRE*LVSLSLLL*NPVFTKA
ESQTLQWKESAWDRLCDLKSE*SLGSSQMLEWNI
GEEILRQVLEMKRKLETWAWWLTPVIPALWEAK
VGRSLEVRSSKPAWPTW*NPISTKNTEISRSWW
WTPVIPATQVAKAGESLQPGRWRLQ*AKIIPRHS
SLGDSETVAQKKKKKKENETRRDF*KSEIYLLD
F*RMCSKTAEDFQEPVSKDSLLIPH***VKCLL
L*LWYIIHSS*NIRPLA*IFHIYKMTDPTRKEAV
AFFEVIFFLCSLLLKPYSFINNFAC*RKKKCFS
*THYPGLFIAVGRTRSSLAPPVCKGSEDLIVQN
TFCKCCAVNTANKLGSKHF

Sequence BRCA1.nAug05

GTACCTTGATTTCGTATTCTGAGAGGCTGCTGCTTAGCGGTAGCCCCTTGGTTTCCGTGGCAACGGAAAAGCGCGGGAATTACAGATAAATTAAAACTGC
GACTGCGCGGCGTGAGCTCGCTGAGACTTCCTGGACGGGGGACAGGCTGTGGGGTTTCTCAGATAACTGGGCCCCTGCGCTCAGGAGGCCTTCACCCTCT
GCTCTGGGTAAAGTTCATTGGAACAGAAAGAAATGGATTTATCTGCTCTTCGCGTTGAAGAAGTACAAAATGTCATTAATGCTATGCAGAAAATCTTAGA
GTGTCCCATCTGTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAATTTTGCATGCTGAAACTTCTCAACCAGAAGAAA
GGGCCTTCACAGTGTCCTTTATGTAAGAATGATATAACCAAAAGGAGCCTACAAGAAAGTACGAGATTTAGTCAACTTGTTGAAGAGCTATTGAAAATCA
TTTGTGCTTTTCAGCTTGACACAGGTTTGGAGTATGCAAACAGCTATAATTTTGCAAAAAAGGAAAATAACTCTCCTGAACATCTAAAAGATGAAGTTTC
TATCATCCAAAGTATGGGCTACAGAAACCGTGCCAAAAGACTTCTACAGAGTGAACCCGAAAATCCTTCCTTGCAGGAAACCAGTCTCAGTGTCCAACTC
TCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAGACGTCTGTCTACATTGAATTGGCTGCTTGTGAATTTTCTGAGA
CGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTGA
AGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGCAGAGGGATACCATG
CAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAACAGCTACCCTTCCATCATAA
GTGACTCTTCTGCCCTTGAGGACCTGCGAAATCCAGAACAAAGCACATCAGAAAAAGCAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCA
GAATCCAGAAGGCCTTTCTGCTGACAAGTTTGAGGTGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAGGTCATCCCCTTCTAAA
TGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATG
TGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGAGGGAACCCCTTACCTGGAATCTGG
AATCAGCCTCTTCTCTGATGACCCTGAATCTGATCCTTCTGAAGACAGAGCCCCAGAGTCAGCTCGTGTTGGCAACATACCATCTTCAACCTCTGCATTG
AAAGTTCCCCAATTGAAAGTTGCAGAATCTGCCCAGAGTCCAGCTGCTGCTCATACTACTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCA
GGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACAAAAGAATGTCCATGGTGGTGTCTGGCCTGACCCCAGAAGAATTTATGCTCGTGTACAA
GTTTGCCAGAAAACACCACATCACTTTAACTAATCTAATTACTGAAGAGACTACTCATGTTGTTATGAAAACAG
ATGCTGAGTTTGTGTGTGAACGGACA
CTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTGGGTGACCCAGTCTATTAAAGAAAGAAAAATGCTGAATGAGCATGATT
TTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGATCTTCAGGGGGCTAGAAATCTG
TTGCTATGGGCCCTTCACCAACATGCCCACAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTT
GGCACAGGTGTCCACCCAATTGTGGTTGTGCAGCCAGATGCCTGGACAGAGGACAATGGCTTCCATGCAATTGGGCAGATGTGTGAGGCACCTGTGGTGA
CCCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATACCCCAGATCCCCCACAGCCACTACTGACTGCAGCC
AGCCACAGGTACAGAGCCACAGGACCCCAAGAATGAGCTTACAAAGTGGCCTTTCCAGGCCCTGGGAGCTCCTCTCACTCTTCAGTCCTTCTACTGTCCT
GGCTACTAAATATTTTATGTACATCAGCCTGAAAAGGACTTCTGGCTATGCAAGGGTCCCTTAAAGATTTTCTGCTTGAAGTCTCCCTTGGAAATCTGCC
ATGAGCACAAAATTATGGTAATTTTTCACCTGAGAAGATTTTAAAACCATTTAAACGCCACCAATTGAGCAAGATGCTGATTCATTATTTATCAGCCCTA
TTCTTTCTATTCAGGCTGTTGTTGGCTTAGGGCTGGAAGCACAGAGTGGCTTGGCCTCAAGAGAATAGCTGGTTTCCCTAAGTTTACTTCTCTAAAACCC
TGTGTTCACAAAGGCAGAGAGTCAGACCCTTCAATGGAAGGAGAGTGCTTGGGATCGATTATGTGACTTAAAGTCAGAATAGTCCTTGGGCAGTTCTCAA
ATGTTGGAGTGGAACATTGGGGAGGAAATTCTGAGGCAGGTATTAGAAATGAAAAGGAAACTTGAAACCTGGGCATGGTGGCTCACGCCTGTAATCCCAG
CACTTTGGGAGGCCAAGGTGGGCAGATCACTGGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAGAAAT
TAGCCGGTCATGGTGGTGGACACCTGTAATCCCAGCTACTCAGGTGGCTAAGGCAGGAGAATCACTTCAGCCCGGGAGGTGGAGGTTGCAGTGAGCCAAG
ATCATACCACGGCACTCCAGCCTGGGTGACAGTGAGACTGTGGCTCAAAAAAAAAAAAAAAAAAAGGAAAATGAAACTAGAAGAGATTTCTAAAAGTCTG
AGATATATTTGCTAGATTTCTAAAGAATGTGTTCTAAAACAGCAGAAGATTTTCAAGAACCGGTTTCCAAAGACAGTCTTCTAATTCCTCATTAGTAATA
AGTAAAATGTTTATTGTTGTAGCTCTGGTATATAATCCATTCCTCTTAAAATATAAGACCTCTGGCATGAATATTTCATATCTATAAAATGACAGATCCC
ACCAGGAAGGAAGCTGTTGCTTTCTTTGAGGTGATTTTTTTCCTTTGCTCCCTGTTGCTGAAACCATACAGCTTCATAAATAATTTTGCTTGCTGAAGGA
AGAAAAAGTGTTTTTCATAAACCCATTATCCAGGACTGTTTATAGCTGTTGGAAGGACTAGGTCTTCCCTAGCCCCCCCAGTGTGCAAGGGCAGTGAAGA
CTTGATTGTACAAAATACGTTTTGTAAATGTTGTGCTGTTAACACTGCAAATAAACTTGGTAGCAAACACTTCCA
  • BRCA1-F1 (forward primer)
  • BRCA1-10 (reverse primer)
  • Multiple exon skipping

Frame 0

VP*FRILRGCCLAVAPWFPWQRKSAGITDKLKL
RLRGVSSLRLPGRGTGCGVSQITGPLRSGGLHPL
LWVKFIGTERNGFICSSR*RSTKCH*CYAENLR
VSHLSGVDQGTCLHKV*PHILQILHAETSQPEE
RAFTVSFM*E*YNQKEPTRKYEI*STC*RAIENH
LCFSA*HRFGVCKQL*FCKKGK*LS*TSKR*SF
YHPKYGLQKPCQKTSTE*TRKSFLAGNQSQCPT
L*PWNCENSEDKAADTTSKDVCLH*IGCL*IF*D
GCNKY*TSSTQ***FEHH*EACS*EASRKVSG*
SSIWV*E*NKRL*RLLRAILSE*HFNHSAEGYH
AT*PDKAPAGNG*TRSCVRTAWEPAF*QLPFHHK
*LFCP*GPAKSRTKHIRKSSINFTEK**IPYKP
ESRRPFC*QV*GVCR*FYQ*K*RTRSGKVIPF*
MPIIR**VVHAQLLWESSE*KLPISRGAH*GC*C
GGATAGRVWATRFDGNILLAKARSRGNPLPGIW
NQPLL**P*I*SF*RQSPRVSSCWQHTIFNLCI
ESSPIESCRICPESSCCSYY*YCWV*CNGRKCEQ
GEARIDSFNRKGQQKNVHGGVWPDPRRIYARVQ
VCQKTPHHFN*SNY*RDYSCCYENR
C*VCV*TD
TEIFSRNCGRKMGS*LFLGDPVY*RKKNAE*A*F
*SQRRCGQWKKPPRSKASKRIPGQKDLQGARNL
LLWALHQHAHRSTGMDGTAVWCFCGEGAFIIHP
WHRCPPNCGCAARCLDRGQWLPCNWADV*GTCGD
PRVGVGQCSTLPVPGAGHLPDTPDPPQPLLTAA
SHRYRATGPQE*AYKVAFPGPGSSSHSSVLLLS
WLLNILCTSA*KGLLAMQGSLKDFLLEVSLGNLP
*AQNYGNFSPEKILKPFKRHQLSKMLIHYLSAL
FFLFRLLLA*GWKHRVAWPQENSWFP*VYFSKT
LCSQRQRVRPFNGRRVLGIDYVT*SQNSPWAVLK
CWSGTLGRKF*GRY*K*KGNLKPGHGGSRL*SQ
HFGRPRWADHWRSGVRNQPGQHGETPSLLKIQK
LAGHGGGHL*SQLLRWLRQENHFSPGGGGCSEPR
SYHGTPAWVTVRLWLKKKKKKRKMKLEEISKSL
RYIC*ISKECVLKQQKIFKNRFPKTVF*FLISN
K*NVYCCSSGI*SIPLKI*DLWHEYFISIK*QIP
PGRKLLLSLR*FFSFAPCC*NHTAS*IILLAEG
RKSVFHKPIIQDCL*LLEGLGLP*PPQCARAVK
T*LYKIRFVNVVLLTLQINLVANTS

Frame 1

YLDFVF*EAAA*R*PLGFRGNGKARELQIN*NC
DCAA*AR*DFLDGGQAVGFLR*LGPCAQEAFTL
CSG*SSLEQKEMDLSALRVEEVQNVINAMQKILE
CPICLELIKEPVSTKCDHIFCKFCMLKLLNQKK
GPSQCPLCKNDITKRSLQESTRFSQLVEELLKI
ICAFQLDTGLEYANSYNFAKKENNSPEHLKDEVS
IIQSMGYRNRAKRLLQSEPENPSLQETSLSVQL
SNLGTVRTLRTKQRIQPQKTSVYIELAACEFSE
TDVTNTEHHQPSNNDLNTTEKRAAERHPEKYQGE
AASGCESETSVSEDCSGLSSQSDILTTQQRDTM
QHNLIKLQQEMAELEAVLEQHGSQPSNSYPSII
SDSSALEDLRNPEQSTSEKAVLTSQKSSEYPISQ
NPEGLSADKFEVSADSSTSKNKEPGVERSSPSK
CPSLDDRWYMHSCSGSLQNRNYPSQEELIKVVD
VEEQQLEESGPHDLTETSYLPRQDLEGTPYLESG
ISLFSDDPESDPSEDRAPESARVGNIPSSTSAL
KVPQLKVAESAQSPAAAHTTDTAGYNAMEESVS
REKPELTASTERVNKRMSMVVSGLTPEEFMLVYK
FARKHHITLTNLITEETTHVVMKT
DAEFVCERT
LKYFLGIAGGKWVVSYFWVTQSIKERKMLNEHD
FEVRGDVVNGRNHQGPKRARESQDRKIFRGLEIC
CYGPFTNMPTDQLEWMVQLCGASVVKELSSFTL
GTGVHPIVVVQPDAWTEDNGFHAIGQMCEAPVV
TREWVLDSVALYQCQELDTYLIPQIPHSHY*LQP
ATGTEPQDPKNELTKWPFQALGAPLTLQSFYCP
GY*IFYVHQPEKDFWLCKGPLKIFCLKSPLEIC
HEHKIMVIFHLRRF*NHLNATN*ARC*FIIYQPY
SFYSGCCWLRAGSTEWLGLKRIAGFPKFTSLKP
CVHKGRESDPSMEGECLGSIM*LKVRIVLGQFS
NVGVEHWGGNSEAGIRNEKET*NLGMVAHACNPS
TLGGQGGQITGGQEFETSLANMVKPHLY*KYRN
*PVMVVDTCNPSYSGG*GRRITSAREVEVAVSQ
DHTTALQPG*Q*DCGSKKKKKKGK*N*KRFLKV*
DIFARFLKNVF*NSRRFSRTGFQRQSSNSSLVI
SKMFIVVALVYNPFLLKYKTSGMNISYL*NDRS
HQEGSCCFL*GDFFPLLPVAETIQLHK*FCLLKE
EKVFFINPLSRTVYSCWKD*VFPSPPSVQGQ*R
LDCTKYVL*MLCC*HCK*TW*QTLP

Frame 2

TLISYSERLLLSGSPLVSVATEKRGNYR*IKTA
TARRELAETSWTGDRLWGFSDNWAPALRRPSPS
ALGKVHWNRKKWIYLLFALKKYKMSLMLCRKS*
SVPSVWS*SRNLSPQSVTTYFANFAC*NFSTRRK
GLHSVLYVRMI*PKGAYKKVRDLVNLLKSY*KS
FVLFSLTQVWSMQTAIILQKRKITLLNI*KMKF
LSSKVWATETVPKDFYRVNPKILPCRKPVSVSNS
LTLEL*EL*GQSSGYNLKRRLSTLNWLLVNFLR
RM*QILNIINPVIMI*TPLRSVQLRGIQKSIRV
KQHLGVRVKQASLKTAQGYPLRVTF*PLSRGIPC
NIT**SSSRKWLN*KLC*NSMGASLLTATLPS*
VTLLPLRTCEIQNKAHQKKQY*LHRKVVNTL*A
RIQKAFLLTSLRCLQIVLPVKIKNQEWKGHPLLN
AHH*MIGGTCTVALGVFRIETTHLKRSSLRLLM
WRSNSWKSLGHTI*RKHLTCQGKI*REPLTWNL
ESASSLMTLNLILLKTEPQSQLVLATYHLQPLH*
KFPN*KLQNLPRVQLLLILLILLGIMQWKKV*A
GRSQN*QLQQKGSTKECPWWCLA*PQKNLCSCT
SLPENTTSL*LI*LLKRLLMLL*KQ
MLSLCVNGH
*NIF*ELREENG*LAISG*PSLLKKEKC*MSMI
LKSEEMWSMEETTKVQSEQENPRTERSSGG*KS
VAMGPSPTCPQINWNGWYSCVVLLW*RSFHHSPL
AQVSTQLWLCSQMPGQRTMASMQLGRCVRHLW*
PESGCWTV*HSTSARSWTPT*YPRSPTATTDCS
QPQVQSHRTPRMSLQSGLSRPWELLSLFSPSTVL
ATKYFMYISLKRTSGYARVP*RFSA*SLPWKSA
MSTKLW*FFT*EDFKTI*TPPIEQDADSLFISP
ILSIQAVVGLGLEAQSGLASRE*LVSLSLLL*NP
VFTKAESQTLQWKESAWDRLCDLKSE*SLGSSQ
MLEWNIGEEILRQVLEMKRKLETWAWWLTPVIP
ALWEAKVGRSLEVRSSKPAWPTW*NPISTKNTEI
SRSWWWTPVIPATQVAKAGESLQPGRWRLQ*AK
IIPRHSSLGDSETVAQKKKKKKENETRRDF*KS
EIYLLDF*RMCSKTAEDFQEPVSKDSLLIPH***
VKCLLL*LWYIIHSS*NIRPLA*IFHIYKMTDP
TRKEAVAFFEVIFFLCSLLLKPYSFINNFAC*R
KKKCFS*THYPGLFIAVGRTRSSLAPPVCKGSED
LIVQNTFCKCCAVNTANKLGSKHF

Sequence BRCA1.mAug05

GTACCTTGATTTCGTATTCTGAGAGGCTGCTGCTTAGCGGTAGCCCCTTGGTTTCCGTGGCAACGGAAAAGCGCGGGAATTACAGATAAATTAAAACTGC
GACTGCGCGGCGTGAGCTCGCTGAGACTTCCTGGACGGGGGACAGGCTGTGGGGTTTCTCAGATAACTGGGCCCCTGCGCTCAGGAGGCCTTCACCCTCT
GCTCTGGGTAAAGTTCATTGGAACAGAAAGAAATGGATTTATCTGCTCTTCGCGTTGAAGAAGTACAAAATGTCATTAATGCTATGCAGAAAATCTTAGA
GTGTCCCATCTGTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAATTTTGCATGCTGAAACTTCTCAACCAGAAGAAA
GGGCCTTCACAGTGTCCTTTATGTAAGAATGATATAACCAAAAGGAGCCTACAAGAAAGTACGAGATTTAGTCAACTTGTTGAAGAGCTATTGAAAATCA
TTTGTGCTTTTCAGCTTGACACAGGTTTGGAGTATGCAAACAGCTATAATTTTGCAAAAAAGGAAAATAACTCTCCTGAACATCTAAAAGATGAAGTTTC
TATCATCCAAAGTATGGGCTACAGAAACCGTGCCAAAAGACTTCTACAGAGTGAACCCGAAAATCCTTCCTTGCAGGAAACCAGTCTCAGTGTCCAACTC
TCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAGACGTCTGTCTACATTGAATTGGGATCTGATTCTTCTGAAGATA
CCGTTAATAAGGCAACTTATTGCAGTGTGGGAGATCAAGAATTGTTACAAATCACCCCTCAAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAA
GGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGCAGAGGGAT
ACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAACAGCTACCCTTCCA
TC
ATAAGTGACTCTTCTGCCCTTGAGGACCTGCGAAATCCAGAACAAAGCACATCAGAAAAAGCAGTATTAACTTCACAGAAAAGTAGTGAATACCCTAT
AAGCCAGAATCCAGAAGGCCTTTCTGCTGACAAGTTTGAGGTGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAGGTCATCCCCT
TCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTG
TTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGAGGGAACCCCTTACCTGGA
ATCTGGAATCAGCCTCTTCTCTGATGACCCTGAATCTGATCCTTCTGAAGACAGAGCCCCAGAGTCAGCTCGTGTTGGCAACATACCATCTTCAACCTCT
GCATTGAAAGTTCCCCAATTGAAAGTTGCAGAATCTGCCCAGAGTCCAGCTGCTGCTCATACTACTGATACTGCTGGGTATAATGCAATGGAAGAAAGTG
TGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACAAAAGAATGTCCATGGTGGTGTCTGGCCTGACCCCAGAAGAATTTATGCTCGT
GTACAAGTTTGCCAGAAAACACCACATCACTTTAACTAATCTAATTACTGAAGAGACTACTCATGTTGTTATGAAAACAG
ATGCTGAGTTTGTGTGTGAA
CGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTGGGTGACCCAGTCTATTAAAGAAAGAAAAATGCTGAATGAGC
ATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGATCTTCAGGGGGCTAGA
AATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTC
ACCCTTGGCACAGGTGTCCACCCAATTGTGGTTGTGCAGCCAGATGCCTGGACAGAGGACAATGGCTTCCATGCAATTGGGCAGATGTGTGAGGCACCTG
TGGTGACCCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATACCCCAGATCCCCCACAGCCACTACTGACT
GCAGCCAGCCACAGGTACAGAGCCACAGGACCCCAAGAATGAGCTTACAAAGTGGCCTTTCCAGGCCCTGGGAGCTCCTCTCACTCTTCAGTCCTTCTAC
TGTCCTGGCTACTAAATATTTTATGTACATCAGCCTGAAAAGGACTTCTGGCTATGCAAGGGTCCCTTAAAGATTTTCTGCTTGAAGTCTCCCTTGGAAA
TCTGCCATGAGCACAAAATTATGGTAATTTTTCACCTGAGAAGATTTTAAAACCATTTAAACGCCACCAATTGAGCAAGATGCTGATTCATTATTTATCA
GCCCTATTCTTTCTATTCAGGCTGTTGTTGGCTTAGGGCTGGAAGCACAGAGTGGCTTGGCCTCAAGAGAATAGCTGGTTTCCCTAAGTTTACTTCTCTA
AAACCCTGTGTTCACAAAGGCAGAGAGTCAGACCCTTCAATGGAAGGAGAGTGCTTGGGATCGATTATGTGACTTAAAGTCAGAATAGTCCTTGGGCAGT
TCTCAAATGTTGGAGTGGAACATTGGGGAGGAAATTCTGAGGCAGGTATTAGAAATGAAAAGGAAACTTGAAACCTGGGCATGGTGGCTCACGCCTGTAA
TCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTGGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAC
AGAAATTAGCCGGTCATGGTGGTGGACACCTGTAATCCCAGCTACTCAGGTGGCTAAGGCAGGAGAATCACTTCAGCCCGGGAGGTGGAGGTTGCAGTGA
GCCAAGATCATACCACGGCACTCCAGCCTGGGTGACAGTGAGACTGTGGCTCAAAAAAAAAAAAAAAAAAAGGAAAATGAAACTAGAAGAGATTTCTAAA
AGTCTGAGATATATTTGCTAGATTTCTAAAGAATGTGTTCTAAAACAGCAGAAGATTTTCAAGAACCGGTTTCCAAAGACAGTCTTCTAATTCCTCATTA
GTAATAAGTAAAATGTTTATTGTTGTAGCTCTGGTATATAATCCATTCCTCTTAAAATATAAGACCTCTGGCATGAATATTTCATATCTATAAAATGACA
GATCCCACCAGGAAGGAAGCTGTTGCTTTCTTTGAGGTGATTTTTTTCCTTTGCTCCCTGTTGCTGAAACCATACAGCTTCATAAATAATTTTGCTTGCT
GAAGGAAGAAAAAGTGTTTTTCATAAACCCATTATCCAGGACTGTTTATAGCTGTTGGAAGGACTAGGTCTTCCCTAGCCCCCCCAGTGTGCAAGGGCAG
TGAAGACTTGATTGTACAAAATACGTTTTGTAAATGTTGTGCTGTTAACACTGCAAATAAACTTGGTAGCAAACACTTCCA
  • BRCA1-F1 (forward primer)
  • BRCA1-10 (reverse primer)
  • Multiple exon skipping

Frame 0

VP*FRILRGCCLAVAPWFPWQRKSAGITDKLKL
RLRGVSSLRLPGRGTGCGVSQITGPLRSGGLHPL
LWVKFIGTERNGFICSSR*RSTKCH*CYAENLR
VSHLSGVDQGTCLHKV*PHILQILHAETSQPEE
RAFTVSFM*E*YNQKEPTRKYEI*STC*RAIENH
LCFSA*HRFGVCKQL*FCKKGK*LS*TSKR*SF
YHPKYGLQKPCQKTSTE*TRKSFLAGNQSQCPT
L*PWNCENSEDKAADTTSKDVCLH*IGI*FF*RY
R**GNLLQCGRSRIVTNHPSRNQG*NQFGFCKK
G*SSIWV*E*NKRL*RLLRAILSE*HFNHSAEG
YHAT*PDKAPAGNG*TRSCVRTAWEPAF*QLPFH
HK*LFCP*GPAKSRTKHIRKSSINFTEK**IPY
KPESRRPFC*QV*GVCR*FYQ*K*RTRSGKVIP
F*MPIIR**VVHAQLLWESSE*KLPISRGAH*GC
*CGGATAGRVWATRFDGNILLAKARSRGNPLPG
IWNQPLL**P*I*SF*RQSPRVSSCWQHTIFNL
CIESSPIESCRICPESSCCSYY*YCWV*CNGRKC
EQGEARIDSFNRKGQQKNVHGGVWPDPRRIYAR
VQVCQKTPHHFN*SNY*RDYSCCYENR
C*VCV*
TDTEIFSRNCGRKMGS*LFLGDPVY*RKKNAE*A
*F*SQRRCGQWKKPPRSKASKRIPGQKDLQGAR
NLLLWALHQHAHRSTGMDGTAVWCFCGEGAFII
HPWHRCPPNCGCAARCLDRGQWLPCNWADV*GTC
GDPRVGVGQCSTLPVPGAGHLPDTPDPPQPLLT
AASHRYRATGPQE*AYKVAFPGPGSSSHSSVLL
LSWLLNILCTSA*KGLLAMQGSLKDFLLEVSLGN
LP*AQNYGNFSPEKILKPFKRHQLSKMLIHYLS
ALFFLFRLLLA*GWKHRVAWPQENSWFP*VYFS
KTLCSQRQRVRPFNGRRVLGIDYVT*SQNSPWAV
LKCWSGTLGRKF*GRY*K*KGNLKPGHGGSRL*
SQHFGRPRWADHWRSGVRNQPGQHGETPSLLKI
QKLAGHGGGHL*SQLLRWLRQENHFSPGGGGCSE
PRSYHGTPAWVTVRLWLKKKKKKRKMKLEEISK
SLRYIC*ISKECVLKQQKIFKNRFPKTVF*FLI
SNK*NVYCCSSGI*SIPLKI*DLWHEYFISIK*Q
IPPGRKLLLSLR*FFSFAPCC*NHTAS*IILLA
EGRKSVFHKPIIQDCL*LLEGLGLP*PPQCARA
VKT*LYKIRFVNVVLLTLQINLVANTS

Frame 1

YLDFVF*EAAA*R*PLGFRGNGKARELQIN*NC
DCAA*AR*DFLDGGQAVGFLR*LGPCAQEAFTL
CSG*SSLEQKEMDLSALRVEEVQNVINAMQKILE
CPICLELIKEPVSTKCDHIFCKFCMLKLLNQKK
GPSQCPLCKNDITKRSLQESTRFSQLVEELLKI
ICAFQLDTGLEYANSYNFAKKENNSPEHLKDEVS
IIQSMGYRNRAKRLLQSEPENPSLQETSLSVQL
SNLGTVRTLRTKQRIQPQKTSVYIELGSDSSED
TVNKATYCSVGDQELLQITPQGTRDEISLDSAKK
GEAASGCESETSVSEDCSGLSSQSDILTTQQRD
TMQHNLIKLQQEMAELEAVLEQHGSQPSNSYPS
I
ISDSSALEDLRNPEQSTSEKAVLTSQKSSEYPI
SQNPEGLSADKFEVSADSSTSKNKEPGVERSSP
SKCPSLDDRWYMHSCSGSLQNRNYPSQEELIKV
VDVEEQQLEESGPHDLTETSYLPRQDLEGTPYLE
SGISLFSDDPESDPSEDRAPESARVGNIPSSTS
ALKVPQLKVAESAQSPAAAHTTDTAGYNAMEES
VSREKPELTASTERVNKRMSMVVSGLTPEEFMLV
YKFARKHHITLTNLITEETTHVVMKT
DAEFVCE
RTLKYFLGIAGGKWVVSYFWVTQSIKERKMLNE
HDFEVRGDVVNGRNHQGPKRARESQDRKIFRGLE
ICCYGPFTNMPTDQLEWMVQLCGASVVKELSSF
TLGTGVHPIVVVQPDAWTEDNGFHAIGQMCEAP
VVTREWVLDSVALYQCQELDTYLIPQIPHSHY*L
QPATGTEPQDPKNELTKWPFQALGAPLTLQSFY
CPGY*IFYVHQPEKDFWLCKGPLKIFCLKSPLE
ICHEHKIMVIFHLRRF*NHLNATN*ARC*FIIYQ
PYSFYSGCCWLRAGSTEWLGLKRIAGFPKFTSL
KPCVHKGRESDPSMEGECLGSIM*LKVRIVLGQ
FSNVGVEHWGGNSEAGIRNEKET*NLGMVAHACN
PSTLGGQGGQITGGQEFETSLANMVKPHLY*KY
RN*PVMVVDTCNPSYSGG*GRRITSAREVEVAV
SQDHTTALQPG*Q*DCGSKKKKKKGK*N*KRFLK
V*DIFARFLKNVF*NSRRFSRTGFQRQSSNSSL
VISKMFIVVALVYNPFLLKYKTSGMNISYL*ND
RSHQEGSCCFL*GDFFPLLPVAETIQLHK*FCLL
KEEKVFFINPLSRTVYSCWKD*VFPSPPSVQGQ
*RLDCTKYVL*MLCC*HCK*TW*QTLP

Frame 2

TLISYSERLLLSGSPLVSVATEKRGNYR*IKTA
TARRELAETSWTGDRLWGFSDNWAPALRRPSPS
ALGKVHWNRKKWIYLLFALKKYKMSLMLCRKS*
SVPSVWS*SRNLSPQSVTTYFANFAC*NFSTRRK
GLHSVLYVRMI*PKGAYKKVRDLVNLLKSY*KS
FVLFSLTQVWSMQTAIILQKRKITLLNI*KMKF
LSSKVWATETVPKDFYRVNPKILPCRKPVSVSNS
LTLEL*EL*GQSSGYNLKRRLSTLNWDLILLKI
PLIRQLIAVWEIKNCYKSPLKEPGMKSVWILQK
RVKQHLGVRVKQASLKTAQGYPLRVTF*PLSRGI
PCNIT**SSSRKWLN*KLC*NSMGASLLTATLP
S
*VTLLPLRTCEIQNKAHQKKQY*LHRKVVNTL
*ARIQKAFLLTSLRCLQIVLPVKIKNQEWKGHPL
LNAHH*MIGGTCTVALGVFRIETTHLKRSSLRL
LMWRSNSWKSLGHTI*RKHLTCQGKI*REPLTW
NLESASSLMTLNLILLKTEPQSQLVLATYHLQPL
H*KFPN*KLQNLPRVQLLLILLILLGIMQWKKV
*AGRSQN*QLQQKGSTKECPWWCLA*PQKNLCS
CTSLPENTTSL*LI*LLKRLLMLL*KQ
MLSLCVN
GH*NIF*ELREENG*LAISG*PSLLKKEKC*MS
MILKSEEMWSMEETTKVQSEQENPRTERSSGG*
KSVAMGPSPTCPQINWNGWYSCVVLLW*RSFHHS
PLAQVSTQLWLCSQMPGQRTMASMQLGRCVRHL
W*PESGCWTV*HSTSARSWTPT*YPRSPTATTD
CSQPQVQSHRTPRMSLQSGLSRPWELLSLFSPST
VLATKYFMYISLKRTSGYARVP*RFSA*SLPWK
SAMSTKLW*FFT*EDFKTI*TPPIEQDADSLFI
SPILSIQAVVGLGLEAQSGLASRE*LVSLSLLL*
NPVFTKAESQTLQWKESAWDRLCDLKSE*SLGS
SQMLEWNIGEEILRQVLEMKRKLETWAWWLTPV
IPALWEAKVGRSLEVRSSKPAWPTW*NPISTKNT
EISRSWWWTPVIPATQVAKAGESLQPGRWRLQ*
AKIIPRHSSLGDSETVAQKKKKKKENETRRDF*
KSEIYLLDF*RMCSKTAEDFQEPVSKDSLLIPH*
**VKCLLL*LWYIIHSS*NIRPLA*IFHIYKMT
DPTRKEAVAFFEVIFFLCSLLLKPYSFINNFAC
*RKKKCFS*THYPGLFIAVGRTRSSLAPPVCKGS
EDLIVQNTFCKCCAVNTANKLGSKHF

Sequence BRCA1.gAug05

GTACCTTGATTTCGTATTCTGAGAGGCTGCTGCTTAGCGGTAGCCCCTTGGTTTCCGTGGCAACGGAAAAGCGCGGGAATTACAGATAAATTAAAACTGC
GACTGCGCGGCGTGAGCTCGCTGAGACTTCCTGGACGGGGGACAGGCTGTGGGGTTTCTCAGATAACTGGGCCCCTGCGCTCAGGAGGCCTTCACCCTCT
GCTCTGGGTAAAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTG
CAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGA
GAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAAGGCTGAATTCTGTAATAAAAGCAAACAGCCTGGCTTAGCAAGGAGCCAACATAAC
AGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAAGGTAGATCTGAATGCTGATCCCCTGTGTGAGAGAAAAGAAT
GGAATAAGCAGAAACTGCCATGCTCAGAGAATCCTAGAGATACTGAAGATGTTCCTTGGATAACACTAAATAGCAGCATTCAGAAAGTTAATGAGTGGTT
TTCCAGAAGTGATGAACTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGCCAAAGTAGCTGATGTATTGGACGTTCTAAATGAGGTA
GATGAATATTCTGGTTCTTCAGAGAAAATAGACTTACTGGCCAGTGATCCTCATGAGGCTTTAATATGTAAAAGTGAAAGAGTTCACTCCAAATCAGTAG
AGAGTAATATTGAAGACAAAATATTTGGGAAAACCTATCGGAAGAAGGCAAGCCTCCCCAACTTAAGCCATGTAACTGAAAATCTAATTATAGGAGCATT
TGTTACTGAGCCACAGATAATACAAGAGCGTCCCCTCACAAATAAATTAAAGCGTAAAAGGAGACCTACATCAGGCCTTCATCCTGAGGATTTTATCAAG
AAAGCAGATTTGGCAGTTCAAAAGACTCCTGAAATGATAAATCAGGGAACTAACCAAACGGAGCAGAATGGTCAAGTGATGAATATTACTAATAGTGGTC
ATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACC
TATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCAT
ATTCATGCGCTTGAACTAGTAGTCAGTAGAAATCTAAGCCCACCTAATTGTACTGAATTGCAAATTGATAGTTGTTCTAGCAGTGAAGAGATAAAGAAAA
AAAAGTACAACCAAATGCCAGTCAGGCACAGCAGAAACCTACAACTCATGGAAGGTAAAGAACCTGCAACTGGAGCCAAGAAGAGTAACAAGCCAAATGA
ACAGACAAGTAAAAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAA
GAATTTGTCAATCCTAGCCTTCCAAGAGAAGAAAAAGAAGAGAAACTAGAAACAGTTAAAGTGTCTAATAATGCTGAAGACCCCAAAGATCTCATGTTAA
GTGGAGAAAGGGTTTTGCAAACTGAAAGATCTGTAGAGAGTAGCAGTATTTCATTGGTACCTGGTACTGATTATGGCACTCAGGAAAGTATCTCGTTACT
GGAAGTTAGCACTCTAGGGAAGGCAAAAACAGAACCAAATAAATGTGTGAGTCAGTGTGCAGCATTTGAAAACCCCAAGGGACTAATTCATGGTTGTTCC
AAAGATAATAGAAATGACACAGAAGGCTTTAAGTATCCATTGGGACATGAAGTTAACCACAGTCGGGAAACAAGCATAGAAATGGAAGAAAGTGAACTTG
ATGCTCAGTATTTGCAGAATACATTCAAGGTTTCAAAGCGCCAGTCATTTGCTCCGTTTTCAAATCCAGGAAATGCAGAAGAGGAATGTGCAACATTCTC
TGCCCACTCTGGGTCCTTAAAGAAACAAAGTCCAAAAGTCACTTTTGAATGTGAACAAAAGGAAGAAAATCAAGGAAAGAATGAGTCTAATATCAAGCCT
GTACAGACAGTTAATATCACTGCAGGCTTTCCTGTGGTTGGTCAGAAAGATAAGCCAGTTGATAATGCCAAATGTAGTATCAAAGGAGGCTCTAGGTTTT
GTCTATCATCTCAGTTCAGAGGCAACGAAACTGGACTCATTACTCCAAATAAACATGGACTTTTACAAAACCCATATCGTATACCACCACTTTTTCCCAT
CAAGTCATTTGTTAAAACTAAATGTAAGAAAAATCTGCTAGAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAACATT
CCAAGTACAGTGAGCACAATTAGCCGTAATAACATTAGAGAAAATGTTTTTAAAGAAGCCAGCTCAAGCAATATTAATGAAGTAGGTTCCAGTACTAATG
AAGTGGGCTCCAGTATTAATGAAATAGGTTCCAGTGATGAAAACATTCAAGCAGAACTAGGTAGAAACAGAGGGCCAAAATTGAATGCTATGCTTAGATT
AGGGGTTTTGCAACCTGAGGTCTATAAACAAAGTCTTCCTGGAAGTAATTGTAAGCATCCTGAAATAAAAAAGCAAGAATATGAAGAAGTAGTTCAGACT
GTTAATACAGATTTCTCTCCATATCTGATTTCAGATAACTTAGAACAGCCTATGGGAAGTAGTCATGCATCTCAGGTTTGTTCTGAGACACCTGATGACC
TGTTAGATGATGGTGAAATAAAGGAAGATACTAGTTTTGCTGAAAATGACATTAAGGAAAGTTCTGCTGTTTTTAGCAAAAGCGTCCAGAAAGGAGAGCT
TAGCAGGAGTCCTAGCCCTTTCACCCATACACATTTGGCTCAGGGTTACCGAAGAGGGGCCAAGAAATTAGAGTCCTCAGAAGAGAACTTATCTAGTGAG
GATGAAGAGCTTCCCTGCTTCCAACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCGAGTGTCTGT
CTAAGAACACAGAGGAGAATTTATTATCATTGAAGAATAGCTTAAATGACTGCAGTAACCAGGTAATATTGGCAAAGGCATCTCAGGAACATCACCTTAG
TGAGGAAACAAAATGTTCTGCTAGCTTGTTTTCTTCACAGTGCAGTGAATTGGAAGACTTGACTGCAAATACAAACACCCAGGATCCTTTCTTGATTGGT
TCTTCCAAACAAATGAGGCATCAGTCTGAAAGCCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAG
AAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATC
CTCTCAGAGTGACATTTTAACCACTCAGCAGAGGGATACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAA
CAGCATGGGAGCCAGCCTTCTAACAGCTACCCTTCCATCATAAGTGACTCTTCTGCCCTTGAGGACCTGCGAAATCCAGAACAAAGCACATCAGAAAAAG
CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAAGTTTGAGGTGTCTGCAGATAGTTCTACCAG
TAAAAATAAAGAACCAGGAGTGGAAAGGTCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAAT
AGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACT
TGCCAAGGCAAGATCTAGAGGGAACCCCTTACCTGGAATCTGGAATCAGCCTCTTCTCTGATGACCCTGAATCTGATCCTTCTGAAGACAGAGCCCCAGA
GTCAGCTCGTGTTGGCAACATACCATCTTCAACCTCTGCATTGAAAGTTCCCCAATTGAAAGTTGCAGAATCTGCCCAGAGTCCAGCTGCTGCTCATACT
ACTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACAAAAGAATGTCCATGG
TGGTGTCTGGCCTGACCCCAGAAGAATTTATGCTCGTGTACAAGTTTGCCAGAAAACACCACATCACTTTAACTAATCTAATTACTGAAGAGACTACTCA
TGTTGTTATGAAAACAG
ATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTGGGTG
ACCCAGTCTATTAAAGAAAGAAAAATGCTGAATGAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAA
GAGAATCCCAGGACAGAAAGATCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGATCAACTGGAATGGATGGTACAGCT
GTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGGTGTCCACCCAATTGTGGTTGTGCAGCCAGATGCCTGGACAGAGGACAAT
GGCTTCCATGCAATTGGGCAGATGTGTGAGGCACCTGTGGTGACCCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCT
ACCTGATACCCCAGATCCCCCACAGCCACTACTGACTGCAGCCAGCCACAGGTACAGAGCCACAGGACCCCAAGAATGAGCTTACAAAGTGGCCTTTCCA
GGCCCTGGGAGCTCCTCTCACTCTTCAGTCCTTCTACTGTCCTGGCTACTAAATATTTTATGTACATCAGCCTGAAAAGGACTTCTGGCTATGCAAGGGT
CCCTTAAAGATTTTCTGCTTGAAGTCTCCCTTGGAAATCTGCCATGAGCACAAAATTATGGTAATTTTTCACCTGAGAAGATTTTAAAACCATTTAAACG
CCACCAATTGAGCAAGATGCTGATTCATTATTTATCAGCCCTATTCTTTCTATTCAGGCTGTTGTTGGCTTAGGGCTGGAAGCACAGAGTGGCTTGGCCT
CAAGAGAATAGCTGGTTTCCCTAAGTTTACTTCTCTAAAACCCTGTGTTCACAAAGGCAGAGAGTCAGACCCTTCAATGGAAGGAGAGTGCTTGGGATCG
ATTATGTGACTTAAAGTCAGAATAGTCCTTGGGCAGTTCTCAAATGTTGGAGTGGAACATTGGGGAGGAAATTCTGAGGCAGGTATTAGAAATGAAAAGG
AAACTTGAAACCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTGGAGGTCAGGAGTTCGAAACCAGCCT
GGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAGAAATTAGCCGGTCATGGTGGTGGACACCTGTAATCCCAGCTACTCAGGTGGCTAAGGCAGG
AGAATCACTTCAGCCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCATACCACGGCACTCCAGCCTGGGTGACAGTGAGACTGTGGCTCAAAAAAAAAAA
AAAAAAAAGGAAAATGAAACTAGAAGAGATTTCTAAAAGTCTGAGATATATTTGCTAGATTTCTAAAGAATGTGTTCTAAAACAGCAGAAGATTTTCAAG
AACCGGTTTCCAAAGACAGTCTTCTAATTCCTCATTAGTAATAAGTAAAATGTTTATTGTTGTAGCTCTGGTATATAATCCATTCCTCTTAAAATATAAG
ACCTCTGGCATGAATATTTCATATCTATAAAATGACAGATCCCACCAGGAAGGAAGCTGTTGCTTTCTTTGAGGTGATTTTTTTCCTTTGCTCCCTGTTG
CTGAAACCATACAGCTTCATAAATAATTTTGCTTGCTGAAGGAAGAAAAAGTGTTTTTCATAAACCCATTATCCAGGACTGTTTATAGCTGTTGGAAGGA
CTAGGTCTTCCCTAGCCCCCCCAGTGTGCAAGGGCAGTGAAGACTTGATTGTACAAAATACGTTTTGTAAATGTTGTGCTGTTAACACTGCAAATAAACT
TGGTAGCAAACACTTCCA
  • BRCA1-F1 (forward primer)
  • BRCA1-10 (reverse primer)
  • Multiple exon skipping

Frame 0

VP*FRILRGCCLAVAPWFPWQRKSAGITDKLKL
RLRGVSSLRLPGRGTGCGVSQITGPLRSGGLHPL
LWVKLLVNFLRRM*QILNIINPVIMI*TPLRSV
QLRGIQKSIRVVLFQTCMWSHVAQILMPAHYSM
RTAVYYSLKTE*M*KRLNSVIKANSLA*QGANIT
DGLEVRKHVMIGGLPAQKKR*I*MLIPCVREKN
GISRNCHAQRILEILKMFLG*H*IAAFRKLMSG
FPEVMNC*VLMTHMMGSLNQMPK*LMYWTF*MR*
MNILVLQRK*TYWPVILMRL*YVKVKEFTPNQ*
RVILKTKYLGKPIGRRQASPT*AM*LKI*L*EH
LLLSHR*YKSVPSQIN*SVKGDLHQAFILRILSR
KQIWQFKRLLK**IRELTKRSRMVK**ILLIVV
MRIKQKVILFRMRKILTQ*NHSKKNLLSKRKLN
L*AAV*AIWNSN*ISTIQKHLKRIG*GGSLLPGI
FMRLN**SVEI*AHLIVLNCKLIVVLAVKR*RK
KSTTKCQSGTAETYNSWKVKNLQLEPRRVTSQM
NRQVKDMTAILSQS*S*QMHLVLLLSVQIPVNLK
NLSILAFQEKKKKRN*KQLKCLIMLKTPKISC*
VEKGFCKLKDL*RVAVFHWYLVLIMALRKVSRY
WKLAL*GRQKQNQINV*VSVQHLKTPRD*FMVVP
KIIEMTQKALSIHWDMKLTTVGKQA*KWKKVNL
MLSICRIHSRFQSASHLLRFQIQEMQKRNVQHS
LPTLGP*RNKVQKSLLNVNKRKKIKERMSLISSL
YRQLISLQAFLWLVRKISQLIMPNVVSKEALGF
VYHLSSEATKLDSLLQINMDFYKTHIVYHHFFP
SSHLLKLNVRKIC*RKTLRNIQCHLKEKWEMRTF
QVQ*AQLAVITLEKMFLKKPAQAILMK*VPVLM
KWAPVLMK*VPVMKTFKQN*VETEGQN*MLCLD
*GFCNLRSINKVFLEVIVSILK*KSKNMKK*FRL
LIQISLHI*FQIT*NSLWEVVMHLRFVLRHLMT
C*MMVK*RKILVLLKMTLRKVLLFLAKASRKES
LAGVLALSPIHIWLRVTEEGPRN*SPQKRTYLVR
MKSFPASNTCYLVK*TIYLLSLLGIAPLLPSVC
LRTQRRIYYH*RIA*MTAVTR*YWQRHLRNITL
VRKQNVLLACFLHSAVNWKT*LQIQTPRILS*LV
LPNK*GISLKARELV*VTRNWFQMMKKEERAWK
KIIKKSKAWIQT*VKQHLGVRVKQASLKTAQGY
PLRVTF*PLSRGIPCNIT**SSSRKWLN*KLC*N
SMGASLLTATLPS*VTLLPLRTCEIQNKAHQKK
QY*LHRKVVNTL*ARIQKAFLLTSLRCLQIVLP
VKIKNQEWKGHPLLNAHH*MIGGTCTVALGVFRI
ETTHLKRSSLRLLMWRSNSWKSLGHTI*RKHLT
CQGKI*REPLTWNLESASSLMTLNLILLKTEPQ
SQLVLATYHLQPLH*KFPN*KLQNLPRVQLLLIL
LILLGIMQWKKV*AGRSQN*QLQQKGSTKECPW
WCLA*PQKNLCSCTSLPENTTSL*LI*LLKRLL
MLL*KQ
MLSLCVNGH*NIF*ELREENG*LAISG*
PSLLKKEKC*MSMILKSEEMWSMEETTKVQSEQ
ENPRTERSSGG*KSVAMGPSPTCPQINWNGWYS
CVVLLW*RSFHHSPLAQVSTQLWLCSQMPGQRTM
ASMQLGRCVRHLW*PESGCWTV*HSTSARSWTP
T*YPRSPTATTDCSQPQVQSHRTPRMSLQSGLS
RPWELLSLFSPSTVLATKYFMYISLKRTSGYARV
P*RFSA*SLPWKSAMSTKLW*FFT*EDFKTI*T
PPIEQDADSLFISPILSIQAVVGLGLEAQSGLA
SRE*LVSLSLLL*NPVFTKAESQTLQWKESAWDR
LCDLKSE*SLGSSQMLEWNIGEEILRQVLEMKR
KLETWAWWLTPVIPALWEAKVGRSLEVRSSKPA
WPTW*NPISTKNTEISRSWWWTPVIPATQVAKAG
ESLQPGRWRLQ*AKIIPRHSSLGDSETVAQKKK
KKKENETRRDF*KSEIYLLDF*RMCSKTAEDFQ
EPVSKDSLLIPH***VKCLLL*LWYIIHSS*NIR
PLA*IFHIYKMTDPTRKEAVAFFEVIFFLCSLL
LKPYSFINNFAC*RKKKCFS*THYPGLFIAVGR
TRSSLAPPVCKGSEDLIVQNTFCKCCAVNTANKL
GSKHF

Frame 1

YLDFVF*EAAA*R*PLGFRGNGKARELQIN*NC
DCAA*AR*DFLDGGQAVGFLR*LGPCAQEAFTL
CSG*SCL*IF*DGCNKY*TSSTQ***FEHH*EAC
S*EASRKVSG*FCFKLACGAMWHKYSCQLITA*
EQQFITH*RQNECRKG*IL**KQTAWLSKEPT*
QMGWK*GNM***ADSQHRKKGRSEC*SPV*EKRM
E*AETAMLRES*RY*RCSLDNTK*QHSES**VV
FQK**TVRF**LT*WGV*IKCQSS*CIGRSK*G
R*IFWFFRENRLTGQ*SS*GFNM*K*KSSLQISR
E*Y*RQNIWENLSEEGKPPQLKPCN*KSNYRSI
CY*ATDNTRASPHK*IKA*KETYIRPSS*GFYQ
ESRFGSSKDS*NDKSGN*PNGAEWSSDEYY**WS
*E*NKR*FYSE*EKS*PNRITRKRICFQNES*T
YKQQYKQYGTRIKYPQFKST*KE*AEEEVFYQA
YSCA*TSSQ*KSKPT*LY*IAN**LF*Q*RDKEK
KVQPNASQAQQKPTTHGR*RTCNWSQEE*QAK*
TDK*KT*QRYFPRAEVNKCTWFFY*VFKYQ*T*
RICQS*PSKRRKRRETRNS*SV**C*RPQRSHVK
WRKGFAN*KICRE*QYFIGTWY*LWHSGKYLVT
GS*HSREGKNRTK*MCESVCSI*KPQGTNSWLF
QR**K*HRRL*VSIGT*S*PQSGNKHRNGRK*T*
CSVFAEYIQGFKAPVICSVFKSRKCRRGMCNIL
CPLWVLKETKSKSHF*M*TKGRKSRKE*V*YQA
CTDS*YHCRLSCGWSER*AS**CQM*YQRRL*VL
SIISVQRQRNWTHYSK*TWTFTKPISYTTTFSH
QVIC*N*M*EKSARGKL*GTFNVT*KRNGK*EH
SKYSEHN*P**H*RKCF*RSQLKQY**SRFQY**
SGLQY**NRFQ**KHSSRTR*KQRAKIECYA*I
RGFAT*GL*TKSSWK*L*AS*NKKARI*RSSSD
C*YRFLSISDFR*LRTAYGK*SCISGLF*DT**P
VR*W*NKGRY*FC*K*H*GKFCCF*QKRPERRA
*QES*PFHPYTFGSGLPKRGQEIRVLRRELI**
G*RASLLPTLVIW*SKQYTFSVY*A*HRCYRVSV
*EHRGEFIIIEE*LK*LQ*PGNIGKGISGTSP*
*GNKMFC*LVFFTVQ*IGRLDCKYKHPGSFLDW
FFQTNEASV*KPGSWSE*QGIGFR**RKRNGLGR
K*SRRAKHGFKLR*SSIWV*E*NKRL*RLLRAI
LSE*HFNHSAEGYHAT*PDKAPAGNG*TRSCVR
TAWEPAF*QLPFHHK*LFCP*GPAKSRTKHIRKS
SINFTEK**IPYKPESRRPFC*QV*GVCR*FYQ
*K*RTRSGKVIPF*MPIIR**VVHAQLLWESSE
*KLPISRGAH*GC*CGGATAGRVWATRFDGNILL
AKARSRGNPLPGIWNQPLL**P*I*SF*RQSPR
VSSCWQHTIFNLCIESSPIESCRICPESSCCSY
Y*YCWV*CNGRKCEQGEARIDSFNRKGQQKNVHG
GVWPDPRRIYARVQVCQKTPHHFN*SNY*RDYS
CCYENR
C*VCV*TDTEIFSRNCGRKMGS*LFLG
DPVY*RKKNAE*A*F*SQRRCGQWKKPPRSKASK
RIPGQKDLQGARNLLLWALHQHAHRSTGMDGTA
VWCFCGEGAFIIHPWHRCPPNCGCAARCLDRGQ
WLPCNWADV*GTCGDPRVGVGQCSTLPVPGAGHL
PDTPDPPQPLLTAASHRYRATGPQE*AYKVAFP
GPGSSSHSSVLLLSWLLNILCTSA*KGLLAMQG
SLKDFLLEVSLGNLP*AQNYGNFSPEKILKPFKR
HQLSKMLIHYLSALFFLFRLLLA*GWKHRVAWP
QENSWFP*VYFSKTLCSQRQRVRPFNGRRVLGI
DYVT*SQNSPWAVLKCWSGTLGRKF*GRY*K*KG
NLKPGHGGSRL*SQHFGRPRWADHWRSGVRNQP
GQHGETPSLLKIQKLAGHGGGHL*SQLLRWLRQ
ENHFSPGGGGCSEPRSYHGTPAWVTVRLWLKKKK
KKRKMKLEEISKSLRYIC*ISKECVLKQQKIFK
NRFPKTVF*FLISNK*NVYCCSSGI*SIPLKI*
DLWHEYFISIK*QIPPGRKLLLSLR*FFSFAPCC
*NHTAS*IILLAEGRKSVFHKPIIQDCL*LLEG
LGLP*PPQCARAVKT*LYKIRFVNVVLLTLQIN
LVANTS

Frame 2

TLISYSERLLLSGSPLVSVATEKRGNYR*IKTA
TARRELAETSWTGDRLWGFSDNWAPALRRPSPS
ALGKAACEFSETDVTNTEHHQPSNNDLNTTEKR
AAERHPEKYQGSSVSNLHVEPCGTNTHASSLQHE
NSSLLLTKDRMNVEKAEFCNKSKQPGLARSQHN
RWAGSKETCNDRRTPSTEKKVDLNADPLCERKE
WNKQKLPCSENPRDTEDVPWITLNSSIQKVNEWF
SRSDELLGSDDSHDGESESNAKVADVLDVLNEV
DEYSGSSEKIDLLASDPHEALICKSERVHSKSV
ESNIEDKIFGKTYRKKASLPNLSHVTENLIIGAF
VTEPQIIQERPLTNKLKRKRRPTSGLHPEDFIK
KADLAVQKTPEMINQGTNQTEQNGQVMNITNSG
HENKTKGDSIQNEKNPNPIESLEKESAFKTKAEP
ISSSISNMELELNIHNSKAPKKNRLRRKSSTRH
IHALELVVSRNLSPPNCTELQIDSCSSSEEIKK
KKYNQMPVRHSRNLQLMEGKEPATGAKKSNKPNE
QTSKRHDSDTFPELKLTNAPGSFTKCSNTSELK
EFVNPSLPREEKEEKLETVKVSNNAEDPKDLML
SGERVLQTERSVESSSISLVPGTDYGTQESISLL
EVSTLGKAKTEPNKCVSQCAAFENPKGLIHGCS
KDNRNDTEGFKYPLGHEVNHSRETSIEMEESEL
DAQYLQNTFKVSKRQSFAPFSNPGNAEEECATFS
AHSGSLKKQSPKVTFECEQKEENQGKNESNIKP
VQTVNITAGFPVVGQKDKPVDNAKCSIKGGSRF
CLSSQFRGNETGLITPNKHGLLQNPYRIPPLFPI
KSFVKTKCKKNLLEENFEEHSMSPEREMGNENI
PSTVSTISRNNIRENVFKEASSSNINEVGSSTN
EVGSSINEIGSSDENIQAELGRNRGPKLNAMLRL
GVLQPEVYKQSLPGSNCKHPEIKKQEYEEVVQT
VNTDFSPYLISDNLEQPMGSSHASQVCSETPDD
LLDDGEIKEDTSFAENDIKESSAVFSKSVQKGEL
SRSPSPFTHTHLAQGYRRGAKKLESSEENLSSE
DEELPCFQHLLFGKVNNIPSQSTRHSTVATECL
SKNTEENLLSLKNSLNDCSNQVILAKASQEHHLS
EETKCSASLFSSQCSELEDLTANTNTQDPFLIG
SSKQMRHQSESQGVGLSDKELVSDDEERGTGLE
ENNQEEQSMDSNLGEAASGCESETSVSEDCSGLS
SQSDILTTQQRDTMQHNLIKLQQEMAELEAVLE
QHGSQPSNSYPSIISDSSALEDLRNPEQSTSEK
AVLTSQKSSEYPISQNPEGLSADKFEVSADSSTS
KNKEPGVERSSPSKCPSLDDRWYMHSCSGSLQN
RNYPSQEELIKVVDVEEQQLEESGPHDLTETSY
LPRQDLEGTPYLESGISLFSDDPESDPSEDRAPE
SARVGNIPSSTSALKVPQLKVAESAQSPAAAHT
TDTAGYNAMEESVSREKPELTASTERVNKRMSM
VVSGLTPEEFMLVYKFARKHHITLTNLITEETTH
VVMKT
DAEFVCERTLKYFLGIAGGKWVVSYFWV
TQSIKERKMLNEHDFEVRGDVVNGRNHQGPKRA
RESQDRKIFRGLEICCYGPFTNMPTDQLEWMVQL
CGASVVKELSSFTLGTGVHPIVVVQPDAWTEDN
GFHAIGQMCEAPVVTREWVLDSVALYQCQELDT
YLIPQIPHSHY*LQPATGTEPQDPKNELTKWPFQ
ALGAPLTLQSFYCPGY*IFYVHQPEKDFWLCKG
PLKIFCLKSPLEICHEHKIMVIFHLRRF*NHLN
ATN*ARC*FIIYQPYSFYSGCCWLRAGSTEWLGL
KRIAGFPKFTSLKPCVHKGRESDPSMEGECLGS
IM*LKVRIVLGQFSNVGVEHWGGNSEAGIRNEK
ET*NLGMVAHACNPSTLGGQGGQITGGQEFETSL
ANMVKPHLY*KYRN*PVMVVDTCNPSYSGG*GR
RITSAREVEVAVSQDHTTALQPG*Q*DCGSKKK
KKKGK*N*KRFLKV*DIFARFLKNVF*NSRRFSR
TGFQRQSSNSSLVISKMFIVVALVYNPFLLKYK
TSGMNISYL*NDRSHQEGSCCFL*GDFFPLLPV
AETIQLHK*FCLLKEEKVFFINPLSRTVYSCWKD
*VFPSPPSVQGQ*RLDCTKYVL*MLCC*HCK*T
W*QTLP

Sequence BRCA1.fAug05

GAGACTTCCTGGACGGGGGACAGGCTGTGGGGTTTCTCAGATAACTGGGCCCCTGCGCTCAGGAGGCCTTCACCCTCTGCTCTGGGTAAAGGTAGTAGAG
TCCCGGGAAAGGGACAGGGGGCCCAAGTGATGCTCTGGGGTACTGGCGTGGGAGAGTGGATTTCCGAAGCTGACAGATGGTTCATTGGAACAGAAAGAAA
TGGATTTATCTGCTCTTCGCGTTGAAGAAGTACAAAATGTCATTAATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGTCTGGAGTTGATCAAGGAACC
TGTCTCCACAAAGTGTGACCACATATTTTGCAAATTTTGCATGCTGAAACTTCTCAACCAGAAGAAAGGGCCTTCACAGTGTCCTTTATGAGCCTACAAG
AAAGTACGAGATTTAGTCAACTTGTTGAAGAGCTATTGAAAATCATTTGTGCTTTTCAGCTTGACACAGGTTTGGAGTATGCAAACAGCTATAATTTTGC
AAAAAAGGAAAATAACTCTCCTGAACATCTAAAAGATGAAGTTTCTATCATCCAAAGTATGGGCTACAGAAACCGTGCCAAAAGACTTCTACAGAGTGAA
CCCGAAAATCCTTCCTTGGAAACCAGTCTCAGTGTCCAACTCTCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAGA
CGTCTGTCTACATTGAATTGGGATCTGATTCTTCTGAAGATACCGTTAATAAGGCAACTTATTGCAGTGTGGGAGATCAAGAATTGTTACAAATCACCCC
TCAAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAGGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGT
AATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCA
CAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAAGGCTGAATTCTGTAATAAAAGCAA
ACAGCCTGGCTTAGCAAGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAAGGTAGATCTG
AATGCTGATCCCCTGTGTGAGAGAAAAGAATGGAATAAGCAGAAACTGCCATGCTCAGAGAATCCTAGAGATACTGAAGATGTTCCTTGGATAACACTAA
ATAGCAGCATTCAGAAAGTTAATGAGTGGTTTTCCAGAAGTGATGAACTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGCCAAAGT
AGCTGATGTATTGGACGTTCTAAATGAGGTAGATGAATATTCTGGTTCTTCAGAGAAAATAGACTTACTGGCCAGTGATCCTCATGAGGCTTTAATATGT
AAAAGTGAAAGAGTTCACTCCAAATCAGTAGAGAGTAATATTGAAGACAAAATATTTGGGAAAACCTATCGGAAGAAGGCAAGCCTCCCCAACTTAAGCC
ATGTAACTGAAAATCTAATTATAGGAGCATTTGTTACTGAGCCACAGATAATACAAGAGCGTCCCCTCACAAATAAATTAAAGCGTAAAAGGAGACCTAC
ATCAGGCCTTCATCCTGAGGATTTTATCAAGAAAGCAGATTTGGCAGTTCAAAAGACTCCTGAAATGATAAATCAGGGAACTAACCAAACGGAGCAGAAT
GGTCAAGTGATGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAA
AAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAA
TAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTCATGCGCTTGAACTAGTAGTCAGTAGAAATCTAAGCCCACCTAATTGTACTGAATTGCAAATTGAT
AGTTGTTCTAGCAGTGAAGAGATAAAGAAAAAAAAGTACAACCAAATGCCAGTCAGGCACAGCAGAAACCTACAACTCATGGAAGGTAAAGAACCTGCAA
CTGGAGCCAAGAAGAGTAACAAGCCAAATGAACAGACAAGTAAAAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTT
TACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCTAGCCTTCCAAGAGAAGAAAAAGAAGAGAAACTAGAAACAGTTAAAGTGTCTAAT
AATGCTGAAGACCCCAAAGATCTCATGTTAAGTGGAGAAAGGGTTTTGCAAACTGAAAGATCTGTAGAGAGTAGCAGTATTTCATTGGTACCTGGTACTG
ATTATGGCACTCAGGAAAGTATCTCGTTACTGGAAGTTAGCACTCTAGGGAAGGCAAAAACAGAACCAAATAAATGTGTGAGTCAGTGTGCAGCATTTGA
AAACCCCAAGGGACTAATTCATGGTTGTTCCAAAGATAATAGAAATGACACAGAAGGCTTTAAGTATCCATTGGGACATGAAGTTAACCACAGTCGGGAA
ACAAGCATAGAAATGGAAGAAAGTGAACTTGATGCTCAGTATTTGCAGAATACATTCAAGGTTTCAAAGCGCCAGTCATTTGCTCCGTTTTCAAATCCAG
GAAATGCAGAAGAGGAATGTGCAACATTCTCTGCCCACTCTGGGTCCTTAAAGAAACAAAGTCCAAAAGTCACTTTTGAATGTGAACAAAAGGAAGAAAA
TCAAGGAAAGAATGAGTCTAATATCAAGCCTGTACAGACAGTTAATATCACTGCAGGCTTTCCTGTGGTTGGTCAGAAAGATAAGCCAGTTGATAATGCC
AAATGTAGTATCAAAGGAGGCTCTAGGTTTTGTCTATCATCTCAGTTCAGAGGCAACGAAACTGGACTCATTACTCCAAATAAACATGGACTTTTACAAA
ACCCATATCGTATACCACCACTTTTTCCCATCAAGTCATTTGTTAAAACTAAATGTAAGAAAAATCTGCTAGAGGAAAACTTTGAGGAACATTCAATGTC
ACCTGAAAGAGAAATGGGAAATGAGAACATTCCAAGTACAGTGAGCACAATTAGCCGTAATAACATTAGAGAAAATGTTTTTAAAGAAGCCAGCTCAAGC
AATATTAATGAAGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAATAGGTTCCAGTGATGAAAACATTCAAGCAGAACTAGGTAGAAACA
GAGGGCCAAAATTGAATGCTATGCTTAGATTAGGGGTTTTGCAACCTGAGGTCTATAAACAAAGTCTTCCTGGAAGTAATTGTAAGCATCCTGAAATAAA
AAAGCAAGAATATGAAGAAGTAGTTCAGACTGTTAATACAGATTTCTCTCCATATCTGATTTCAGATAACTTAGAACAGCCTATGGGAAGTAGTCATGCA
TCTCAGGTTTGTTCTGAGACACCTGATGACCTGTTAGATGATGGTGAAATAAAGGAAGATACTAGTTTTGCTGAAAATGACATTAAGGAAAGTTCTGCTG
TTTTTAGCAAAAGCGTCCAGAAAGGAGAGCTTAGCAGGAGTCCTAGCCCTTTCACCCATACACATTTGGCTCAGGGTTACCGAAGAGGGGCCAAGAAATT
AGAGTCCTCAGAAGAGAACTTATCTAGTGAGGATGAAGAGCTTCCCTGCTTCCAACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACT
AGGCATAGCACCGTTGCTACCGAGTGTCTGTCTAAGAACACAGAGGAGAATTTATTATCATTGAAGAATAGCTTAAATGACTGCAGTAACCAGGTAATAT
TGGCAAAGGCATCTCAGGAACATCACCTTAGTGAGGAAACAAAATGTTCTGCTAGCTTGTTTTCTTCACAGTGCAGTGAATTGGAAGACTTGACTGCAAA
TACAAACACCCAGGATCCTTTCTTGATTGGTTCTTCCAAACAAATGAGGCATCAGTCTGAAAGCCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCA
GATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAA
CAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGCAGAGGGATACCATGCAACATAACCTGATAAAGCTCCAGCA
GGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAACAGCTACCCTTCCATCATAAGTGACTCTTCTGCCCTTGAGGACCTG
CGAAATCCAGAACAAAGCACATCAGAAAAAGCAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACA
AGTTTGAGGTGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAGGTCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTA
CATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCT
GGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGAGGGAACCCCTTACCTGGAATCTGGAATCAGCCTCTTCTCTGATGACCCTG
AATCTGATCCTTCTGAAGACAGAGCCCCAGAGTCAGCTCGTGTTGGCAACATACCATCTTCAACCTCTGCATTGAAAGTTCCCCAATTGAAAGTTGCAGA
ATCTGCCCAGAGTCCAGCTGCTGCTCATACTACTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCA
ACAGAAAGGGTCAACAAAAGAATGTCCATGGTGGTGTCTGGCCTGACCCCAGAAGAATTTATGCTCGTGTACAAGTTTGCCAGAAAACACCACATCACTT
TAACTAATCTAATTACTGAAGAGACTACTCATGTTGTTATGAAAACAG
ATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGG
AGGAAAATGGGTAGTTAGCTATTTCTGGGTGACCCAGTCTATTAAAGAAAGAAAAATGCTGAATGAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAAT
GGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGATCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGC
CCACAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGGTGTCCACCCAATTGTGGT
TGTGCAGCCAGATGCCTGGACAGAGGACAATGGCTTCCATGCAATTGGGCAGATGTGTGAGGCACCTGTGGTGACCCGAGAGTGGGTGTTGGACAGTGTA
GCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATACCCCAGATCCCCCACAGCCACTACTGACTGCAGCCAGCCACAGGTACAGAGCCACAGGACC
CCAAGAATGAGCTTACAAAGTGGCCTTTCCAGGCCCTGGGAGCTCCTCTCACTCTTCAGTCCTTCTACTGTCCTGGCTACTAAATATTTTATGTACATCA
GCCTGAAAAGGACTTCTGGCTATGCAAGGGTCCCTTAAAGATTTTCTGCTTGAAGTCTCCCTTGGAAATCTGCCATGAGCACAAAATTATGGTAATTTTT
CACCTGAGAAGATTTTAAAACCATTTAAACGCCACCAATTGAGCAAGATGCTGATTCATTATTTATCAGCCCTATTCTTTCTATTCAGGCTGTTGTTGGC
TTAGGGCTGGAAGCACAGAGTGGCTTGGCCTCAAGAGAATAGCTGGTTTCCCTAAGTTTACTTCTCTAAAACCCTGTGTTCACAAAGGCAGAGAGTCAGA
CCCTTCAATGGAAGGAGAGTGCTTGGGATCGATTATGTGACTTAAAGTCAGAATAGTCCTTGGGCAGTTCTCAAATGTTGGAGTGGAACATTGGGGAGGA
AATTCTGAGGCAGGTATTAGAAATGAAAAGGAAACTTGAAACCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGA
TCACTGGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAGAAATTAGCCGGTCATGGTGGTGGACACCTG
TAATCCCAGCTACTCAGGTGGCTAAGGCAGGAGAATCACTTCAGCCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCATACCACGGCACTCCAGCCTGGG
TGACAGTGAGACTGTGGCTCAAAAAAAAAAAAAAAAAAAGGAAAATGAAACTAGAAGAGATTTCTAAAAGTCTGAGATATATTTGCTAGATTTCTAAAGA
ATGTGTTCTAAAACAGCAGAAGATTTTCAAGAACCGGTTTCCAAAGACAGTCTTCTAATTCCTCATTAGTAATAAGTAAAATGTTTATTGTTGTAGCTCT
GGTATATAATCCATTCCTCTTAAAATATAAGACCTCTGGCATGAATATTTCATATCTATAAAATGACAGATCCCACCAGGAAGGAAGCTGTTGCTTTCTT
TGAGGTGATTTTTTTCCTTTGCTCCCTGTTGCTGAAACCATACAGCTTCATAAATAATTTTGCTTGCTGAAGGAAGAAAAAGTGTTTTTCATAAACCCAT
TATCCAGGACTGTTTATAGCTGTTGGAAGGACTAGGTCTTCCCTAGCCCCCCCAGTGTGCAAGGGCAGTGAAGACTTGATTGTACAAAATACGTTTTGTA
AATGTTGTGCTGTTAACACTGCAAATAAACTTGGTAGCAAACACTTCCA
  • BRCA1-F1 (forward primer)
  • BRCA1-10 (reverse primer)
  • Multiple exon skipping

Frame 0

ETSWTGDRLWGFSDNWAPALRRPSPSALGKGSR
VPGKGQGAQVMLWGTGVGEWISEADRWFIGTERN
GFICSSR*RSTKCH*CYAENLRVSHLSGVDQGT
CLHKV*PHILQILHAETSQPEERAFTVSFMSLQ
ESTRFSQLVEELLKIICAFQLDTGLEYANSYNFA
KKENNSPEHLKDEVSIIQSMGYRNRAKRLLQSE
PENPSLETSLSVQLSNLGTVRTLRTKQRIQPQK
TSVYIELGSDSSEDTVNKATYCSVGDQELLQITP
QGTRDEISLDSAKKAACEFSETDVTNTEHHQPS
NNDLNTTEKRAAERHPEKYQGSSVSNLHVEPCG
TNTHASSLQHENSSLLLTKDRMNVEKAEFCNKSK
QPGLARSQHNRWAGSKETCNDRRTPSTEKKVDL
NADPLCERKEWNKQKLPCSENPRDTEDVPWITL
NSSIQKVNEWFSRSDELLGSDDSHDGESESNAKV
ADVLDVLNEVDEYSGSSEKIDLLASDPHEALIC
KSERVHSKSVESNIEDKIFGKTYRKKASLPNLS
HVTENLIIGAFVTEPQIIQERPLTNKLKRKRRPT
SGLHPEDFIKKADLAVQKTPEMINQGTNQTEQN
GQVMNITNSGHENKTKGDSIQNEKNPNPIESLE
KESAFKTKAEPISSSISNMELELNIHNSKAPKKN
RLRRKSSTRHIHALELVVSRNLSPPNCTELQID
SCSSSEEIKKKKYNQMPVRHSRNLQLMEGKEPA
TGAKKSNKPNEQTSKRHDSDTFPELKLTNAPGSF
TKCSNTSELKEFVNPSLPREEKEEKLETVKVSN
NAEDPKDLMLSGERVLQTERSVESSSISLVPGT
DYGTQESISLLEVSTLGKAKTEPNKCVSQCAAFE
NPKGLIHGCSKDNRNDTEGFKYPLGHEVNHSRE
TSIEMEESELDAQYLQNTFKVSKRQSFAPFSNP
GNAEEECATFSAHSGSLKKQSPKVTFECEQKEEN
QGKNESNIKPVQTVNITAGFPVVGQKDKPVDNA
KCSIKGGSRFCLSSQFRGNETGLITPNKHGLLQ
NPYRIPPLFPIKSFVKTKCKKNLLEENFEEHSMS
PEREMGNENIPSTVSTISRNNIRENVFKEASSS
NINEVGSSTNEVGSSINEIGSSDENIQAELGRN
RGPKLNAMLRLGVLQPEVYKQSLPGSNCKHPEIK
KQEYEEVVQTVNTDFSPYLISDNLEQPMGSSHA
SQVCSETPDDLLDDGEIKEDTSFAENDIKESSA
VFSKSVQKGELSRSPSPFTHTHLAQGYRRGAKKL
ESSEENLSSEDEELPCFQHLLFGKVNNIPSQST
RHSTVATECLSKNTEENLLSLKNSLNDCSNQVI
LAKASQEHHLSEETKCSASLFSSQCSELEDLTAN
TNTQDPFLIGSSKQMRHQSESQGVGLSDKELVS
DDEERGTGLEENNQEEQSMDSNLGEAASGCESE
TSVSEDCSGLSSQSDILTTQQRDTMQHNLIKLQQ
EMAELEAVLEQHGSQPSNSYPSIISDSSALEDL
RNPEQSTSEKAVLTSQKSSEYPISQNPEGLSAD
KFEVSADSSTSKNKEPGVERSSPSKCPSLDDRWY
MHSCSGSLQNRNYPSQEELIKVVDVEEQQLEES
GPHDLTETSYLPRQDLEGTPYLESGISLFSDDP
ESDPSEDRAPESARVGNIPSSTSALKVPQLKVAE
SAQSPAAAHTTDTAGYNAMEESVSREKPELTAS
TERVNKRMSMVVSGLTPEEFMLVYKFARKHHIT
LTNLITEETTHVVMKT
DAEFVCERTLKYFLGIAG
GKWVVSYFWVTQSIKERKMLNEHDFEVRGDVVN
GRNHQGPKRARESQDRKIFRGLEICCYGPFTNM
PTDQLEWMVQLCGASVVKELSSFTLGTGVHPIVV
VQPDAWTEDNGFHAIGQMCEAPVVTREWVLDSV
ALYQCQELDTYLIPQIPHSHY*LQPATGTEPQD
PKNELTKWPFQALGAPLTLQSFYCPGY*IFYVHQ
PEKDFWLCKGPLKIFCLKSPLEICHEHKIMVIF
HLRRF*NHLNATN*ARC*FIIYQPYSFYSGCCW
LRAGSTEWLGLKRIAGFPKFTSLKPCVHKGRESD
PSMEGECLGSIM*LKVRIVLGQFSNVGVEHWGG
NSEAGIRNEKET*NLGMVAHACNPSTLGGQGGQ
ITGGQEFETSLANMVKPHLY*KYRN*PVMVVDTC
NPSYSGG*GRRITSAREVEVAVSQDHTTALQPG
*Q*DCGSKKKKKKGK*N*KRFLKV*DIFARFLK
NVF*NSRRFSRTGFQRQSSNSSLVISKMFIVVAL
VYNPFLLKYKTSGMNISYL*NDRSHQEGSCCFL
*GDFFPLLPVAETIQLHK*FCLLKEEKVFFINP
LSRTVYSCWKD*VFPSPPSVQGQ*RLDCTKYVL*
MLCC*HCK*TW*QTLP

Frame 1

RLPGRGTGCGVSQITGPLRSGGLHPLLWVKVVE
SRERDRGPK*CSGVLAWESGFPKLTDGSLEQKE
MDLSALRVEEVQNVINAMQKILECPICLELIKEP
VSTKCDHIFCKFCMLKLLNQKKGPSQCPL*AYK
KVRDLVNLLKSY*KSFVLFSLTQVWSMQTAIIL
QKRKITLLNI*KMKFLSSKVWATETVPKDFYRVN
PKILPWKPVSVSNSLTLEL*EL*GQSSGYNLKR
RLSTLNWDLILLKIPLIRQLIAVWEIKNCYKSP
LKEPGMKSVWILQKRLLVNFLRRM*QILNIINPV
IMI*TPLRSVQLRGIQKSIRVVLFQTCMWSHVA
QILMPAHYSMRTAVYYSLKTE*M*KRLNSVIKA
NSLA*QGANITDGLEVRKHVMIGGLPAQKKR*I*
MLIPCVREKNGISRNCHAQRILEILKMFLG*H*
IAAFRKLMSGFPEVMNC*VLMTHMMGSLNQMPK
*LMYWTF*MR*MNILVLQRK*TYWPVILMRL*YV
KVKEFTPNQ*RVILKTKYLGKPIGRRQASPT*A
M*LKI*L*EHLLLSHR*YKSVPSQIN*SVKGDL
HQAFILRILSRKQIWQFKRLLK**IRELTKRSRM
VK**ILLIVVMRIKQKVILFRMRKILTQ*NHSK
KNLLSKRKLNL*AAV*AIWNSN*ISTIQKHLKR
IG*GGSLLPGIFMRLN**SVEI*AHLIVLNCKLI
VVLAVKR*RKKSTTKCQSGTAETYNSWKVKNLQ
LEPRRVTSQMNRQVKDMTAILSQS*S*QMHLVL
LLSVQIPVNLKNLSILAFQEKKKKRN*KQLKCLI
MLKTPKISC*VEKGFCKLKDL*RVAVFHWYLVL
IMALRKVSRYWKLAL*GRQKQNQINV*VSVQHL
KTPRD*FMVVPKIIEMTQKALSIHWDMKLTTVGK
QA*KWKKVNLMLSICRIHSRFQSASHLLRFQIQ
EMQKRNVQHSLPTLGP*RNKVQKSLLNVNKRKK
IKERMSLISSLYRQLISLQAFLWLVRKISQLIMP
NVVSKEALGFVYHLSSEATKLDSLLQINMDFYK
THIVYHHFFPSSHLLKLNVRKIC*RKTLRNIQC
HLKEKWEMRTFQVQ*AQLAVITLEKMFLKKPAQA
ILMK*VPVLMKWAPVLMK*VPVMKTFKQN*VET
EGQN*MLCLD*GFCNLRSINKVFLEVIVSILK*
KSKNMKK*FRLLIQISLHI*FQIT*NSLWEVVMH
LRFVLRHLMTC*MMVK*RKILVLLKMTLRKVLL
FLAKASRKESLAGVLALSPIHIWLRVTEEGPRN
*SPQKRTYLVRMKSFPASNTCYLVK*TIYLLSLL
GIAPLLPSVCLRTQRRIYYH*RIA*MTAVTR*Y
WQRHLRNITLVRKQNVLLACFLHSAVNWKT*LQ
IQTPRILS*LVLPNK*GISLKARELV*VTRNWFQ
MMKKEERAWKKIIKKSKAWIQT*VKQHLGVRVK
QASLKTAQGYPLRVTF*PLSRGIPCNIT**SSS
RKWLN*KLC*NSMGASLLTATLPS*VTLLPLRTC
EIQNKAHQKKQY*LHRKVVNTL*ARIQKAFLLT
SLRCLQIVLPVKIKNQEWKGHPLLNAHH*MIGG
TCTVALGVFRIETTHLKRSSLRLLMWRSNSWKSL
GHTI*RKHLTCQGKI*REPLTWNLESASSLMTL
NLILLKTEPQSQLVLATYHLQPLH*KFPN*KLQ
NLPRVQLLLILLILLGIMQWKKV*AGRSQN*QLQ
QKGSTKECPWWCLA*PQKNLCSCTSLPENTTSL
*LI*LLKRLLMLL*KQ
MLSLCVNGH*NIF*ELR
EENG*LAISG*PSLLKKEKC*MSMILKSEEMWSM
EETTKVQSEQENPRTERSSGG*KSVAMGPSPTC
PQINWNGWYSCVVLLW*RSFHHSPLAQVSTQLW
LCSQMPGQRTMASMQLGRCVRHLW*PESGCWTV*
HSTSARSWTPT*YPRSPTATTDCSQPQVQSHRT
PRMSLQSGLSRPWELLSLFSPSTVLATKYFMYI
SLKRTSGYARVP*RFSA*SLPWKSAMSTKLW*FF
T*EDFKTI*TPPIEQDADSLFISPILSIQAVVG
LGLEAQSGLASRE*LVSLSLLL*NPVFTKAESQ
TLQWKESAWDRLCDLKSE*SLGSSQMLEWNIGEE
ILRQVLEMKRKLETWAWWLTPVIPALWEAKVGR
SLEVRSSKPAWPTW*NPISTKNTEISRSWWWTP
VIPATQVAKAGESLQPGRWRLQ*AKIIPRHSSLG
DSETVAQKKKKKKENETRRDF*KSEIYLLDF*R
MCSKTAEDFQEPVSKDSLLIPH***VKCLLL*L
WYIIHSS*NIRPLA*IFHIYKMTDPTRKEAVAFF
EVIFFLCSLLLKPYSFINNFAC*RKKKCFS*TH
YPGLFIAVGRTRSSLAPPVCKGSEDLIVQNTFC
KCCAVNTANKLGSKHF

Frame 2

DFLDGGQAVGFLR*LGPCAQEAFTLCSG*R**S
PGKGTGGPSDALGYWRGRVDFRS*QMVHWNRKK
WIYLLFALKKYKMSLMLCRKS*SVPSVWS*SRN
LSPQSVTTYFANFAC*NFSTRRKGLHSVLYEPTR
KYEI*STC*RAIENHLCFSA*HRFGVCKQL*FC
KKGK*LS*TSKR*SFYHPKYGLQKPCQKTSTE*
TRKSFLGNQSQCPTL*PWNCENSEDKAADTTSKD
VCLH*IGI*FF*RYR**GNLLQCGRSRIVTNHP
SRNQG*NQFGFCKKGCL*IF*DGCNKY*TSSTQ
***FEHH*EACS*EASRKVSG*FCFKLACGAMWH
KYSCQLITA*EQQFITH*RQNECRKG*IL**KQ
TAWLSKEPT*QMGWK*GNM***ADSQHRKKGRS
EC*SPV*EKRME*AETAMLRES*RY*RCSLDNTK
*QHSES**VVFQK**TVRF**LT*WGV*IKCQS
S*CIGRSK*GR*IFWFFRENRLTGQ*SS*GFNM
*K*KSSLQISRE*Y*RQNIWENLSEEGKPPQLKP
CN*KSNYRSICY*ATDNTRASPHK*IKA*KETY
IRPSS*GFYQESRFGSSKDS*NDKSGN*PNGAE
WSSDEYY**WS*E*NKR*FYSE*EKS*PNRITRK
RICFQNES*TYKQQYKQYGTRIKYPQFKST*KE
*AEEEVFYQAYSCA*TSSQ*KSKPT*LY*IAN*
*LF*Q*RDKEKKVQPNASQAQQKPTTHGR*RTCN
WSQEE*QAK*TDK*KT*QRYFPRAEVNKCTWFF
Y*VFKYQ*T*RICQS*PSKRRKRRETRNS*SV*
*C*RPQRSHVKWRKGFAN*KICRE*QYFIGTWY*
LWHSGKYLVTGS*HSREGKNRTK*MCESVCSI*
KPQGTNSWLFQR**K*HRRL*VSIGT*S*PQSG
NKHRNGRK*T*CSVFAEYIQGFKAPVICSVFKSR
KCRRGMCNILCPLWVLKETKSKSHF*M*TKGRK
SRKE*V*YQACTDS*YHCRLSCGWSER*AS**C
QM*YQRRL*VLSIISVQRQRNWTHYSK*TWTFTK
PISYTTTFSHQVIC*N*M*EKSARGKL*GTFNV
T*KRNGK*EHSKYSEHN*P**H*RKCF*RSQLK
QY**SRFQY**SGLQY**NRFQ**KHSSRTR*KQ
RAKIECYA*IRGFAT*GL*TKSSWK*L*AS*NK
KARI*RSSSDC*YRFLSISDFR*LRTAYGK*SC
ISGLF*DT**PVR*W*NKGRY*FC*K*H*GKFCC
F*QKRPERRA*QES*PFHPYTFGSGLPKRGQEI
RVLRRELI**G*RASLLPTLVIW*SKQYTFSVY
*A*HRCYRVSV*EHRGEFIIIEE*LK*LQ*PGNI
GKGISGTSP**GNKMFC*LVFFTVQ*IGRLDCK
YKHPGSFLDWFFQTNEASV*KPGSWSE*QGIGF
R**RKRNGLGRK*SRRAKHGFKLR*SSIWV*E*N
KRL*RLLRAILSE*HFNHSAEGYHAT*PDKAPA
GNG*TRSCVRTAWEPAF*QLPFHHK*LFCP*GP
AKSRTKHIRKSSINFTEK**IPYKPESRRPFC*Q
V*GVCR*FYQ*K*RTRSGKVIPF*MPIIR**VV
HAQLLWESSE*KLPISRGAH*GC*CGGATAGRV
WATRFDGNILLAKARSRGNPLPGIWNQPLL**P*
I*SF*RQSPRVSSCWQHTIFNLCIESSPIESCR
ICPESSCCSYY*YCWV*CNGRKCEQGEARIDSF
NRKGQQKNVHGGVWPDPRRIYARVQVCQKTPHHF
N*SNY*RDYSCCYENR
C*VCV*TDTEIFSRNCG
RKMGS*LFLGDPVY*RKKNAE*A*F*SQRRCGQ
WKKPPRSKASKRIPGQKDLQGARNLLLWALHQHA
HRSTGMDGTAVWCFCGEGAFIIHPWHRCPPNCG
CAARCLDRGQWLPCNWADV*GTCGDPRVGVGQC
STLPVPGAGHLPDTPDPPQPLLTAASHRYRATGP
QE*AYKVAFPGPGSSSHSSVLLLSWLLNILCTS
A*KGLLAMQGSLKDFLLEVSLGNLP*AQNYGNF
SPEKILKPFKRHQLSKMLIHYLSALFFLFRLLLA
*GWKHRVAWPQENSWFP*VYFSKTLCSQRQRVR
PFNGRRVLGIDYVT*SQNSPWAVLKCWSGTLGR
KF*GRY*K*KGNLKPGHGGSRL*SQHFGRPRWAD
HWRSGVRNQPGQHGETPSLLKIQKLAGHGGGHL
*SQLLRWLRQENHFSPGGGGCSEPRSYHGTPAW
VTVRLWLKKKKKKRKMKLEEISKSLRYIC*ISKE
CVLKQQKIFKNRFPKTVF*FLISNK*NVYCCSS
GI*SIPLKI*DLWHEYFISIK*QIPPGRKLLLS
LR*FFSFAPCC*NHTAS*IILLAEGRKSVFHKPI
IQDCL*LLEGLGLP*PPQCARAVKT*LYKIRFV
NVVLLTLQINLVANTS

Sequence BRCA1.eAug05

GTACCTTGATTTCGTATTCTGAGAGGCTGCTGCTTAGCGGTAGCCCCTTGGTTTCCGTGGCAACGGAAAAGCGCGGGAATTACAGATAAATTAAAACTGC
GACTGCGCGGCGTGAGCTCGCTGAGACTTCCTGGACGGGGGACAGGCTGTGGGGTTTCTCAGATAACTGGGCCCCTGCGCTCAGGAGGCCTTCACCCTCT
GCTCTGGGTAAAGTTCATTGGAACAGAAAGAAATGGATTTATCTGCTCTTCGCGTTGAAGAAGTACAAAATGTCATTAATGCTATGCAGAAAATCTTAGA
GTGTCCCATCTGTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAGGTCTTACTCTGTTGTCCCAGCTGGAGTACAGTG
GTGCGATCATGAGGCTTACTGTTGCCTTGACCTCCTAGGCTCAAGCGATCCTATCACCTCAGTCTCCCAAGTAGCTGGGACTATTTTGCATGCTGAAACT
TCTCAACCAGAAGAAAGGGCCTTCACAGTGTCCTTTATGTAAGAATGATATAACCAAAAGGAGCCTACAAGAAAGTACGAGATTTAGTCAACTTGTTGAA
GAGCTATTGAAAATCATTTGTGCTTTTCAGCTTGACACAGGTTTGGAGTATGCAAACAGCTATAATTTTGCAAAAAAGGAAAATAACTCTCCTGAACATC
TAAAAGATGAAGTTTCTATCATCCAAAGTATGGGCTACAGAAACCGTGCCAAAAGACTTCTACAGAGTGAACCCGAAAATCCTTCCTTGCAGGAAACCAG
TCTCAGTGTCCAACTCTCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAGACGTCTGTCTACATTGAATTGGGATCT
GATTCTTCTGAAGATACCGTTAATAAGGCAACTTATTGCAGTGTGGGAGATCAAGAATTGTTACAAATCACCCCTCAAGGAACCAGGGATGAAATCAGTT
TGGATTCTGCAAAAAAGGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAA
GCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAG
CATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAAGGCTGAATTCTGTAATAAAAGCAAACAGCCTGGCTTAGCAAGGAGCCAAC
ATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAAGGTAGATCTGAATGCTGATCCCCTGTGTGAGAGAAA
AGAATGGAATAAGCAGAAACTGCCATGCTCAGAGAATCCTAGAGATACTGAAGATGTTCCTTGGATAACACTAAATAGCAGCATTCAGAAAGTTAATGAG
TGGTTTTCCAGAAGTGATGAACTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGCCAAAGTAGCTGATGTATTGGACGTTCTAAATG
AGGTAGATGAATATTCTGGTTCTTCAGAGAAAATAGACTTACTGGCCAGTGATCCTCATGAGGCTTTAATATGTAAAAGTGAAAGAGTTCACTCCAAATC
AGTAGAGAGTAATATTGAAGACAAAATATTTGGGAAAACCTATCGGAAGAAGGCAAGCCTCCCCAACTTAAGCCATGTAACTGAAAATCTAATTATAGGA
GCATTTGTTACTGAGCCACAGATAATACAAGAGCGTCCCCTCACAAATAAATTAAAGCGTAAAAGGAGACCTACATCAGGCCTTCATCCTGAGGATTTTA
TCAAGAAAGCAGATTTGGCAGTTCAAAAGACTCCTGAAATGATAAATCAGGGAACTAACCAAACGGAGCAGAATGGTCAAGTGATGAATATTACTAATAG
TGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCT
GAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCA
GGCATATTCATGCGCTTGAACTAGTAGTCAGTAGAAATCTAAGCCCACCTAATTGTACTGAATTGCAAATTGATAGTTGTTCTAGCAGTGAAGAGATAAA
GAAAAAAAAGTACAACCAAATGCCAGTCAGGCACAGCAGAAACCTACAACTCATGGAAGGTAAAGAACCTGCAACTGGAGCCAAGAAGAGTAACAAGCCA
AATGAACAGACAAGTAAAAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAAC
TTAAAGAATTTGTCAATCCTAGCCTTCCAAGAGAAGAAAAAGAAGAGAAACTAGAAACAGTTAAAGTGTCTAATAATGCTGAAGACCCCAAAGATCTCAT
GTTAAGTGGAGAAAGGGTTTTGCAAACTGAAAGATCTGTAGAGAGTAGCAGTATTTCATTGGTACCTGGTACTGATTATGGCACTCAGGAAAGTATCTCG
TTACTGGAAGTTAGCACTCTAGGGAAGGCAAAAACAGAACCAAATAAATGTGTGAGTCAGTGTGCAGCATTTGAAAACCCCAAGGGACTAATTCATGGTT
GTTCCAAAGATAATAGAAATGACACAGAAGGCTTTAAGTATCCATTGGGACATGAAGTTAACCACAGTCGGGAAACAAGCATAGAAATGGAAGAAAGTGA
ACTTGATGCTCAGTATTTGCAGAATACATTCAAGGTTTCAAAGCGCCAGTCATTTGCTCCGTTTTCAAATCCAGGAAATGCAGAAGAGGAATGTGCAACA
TTCTCTGCCCACTCTGGGTCCTTAAAGAAACAAAGTCCAAAAGTCACTTTTGAATGTGAACAAAAGGAAGAAAATCAAGGAAAGAATGAGTCTAATATCA
AGCCTGTACAGACAGTTAATATCACTGCAGGCTTTCCTGTGGTTGGTCAGAAAGATAAGCCAGTTGATAATGCCAAATGTAGTATCAAAGGAGGCTCTAG
GTTTTGTCTATCATCTCAGTTCAGAGGCAACGAAACTGGACTCATTACTCCAAATAAACATGGACTTTTACAAAACCCATATCGTATACCACCACTTTTT
CCCATCAAGTCATTTGTTAAAACTAAATGTAAGAAAAATCTGCTAGAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGA
ACATTCCAAGTACAGTGAGCACAATTAGCCGTAATAACATTAGAGAAAATGTTTTTAAAGAAGCCAGCTCAAGCAATATTAATGAAGTAGGTTCCAGTAC
TAATGAAGTGGGCTCCAGTATTAATGAAATAGGTTCCAGTGATGAAAACATTCAAGCAGAACTAGGTAGAAACAGAGGGCCAAAATTGAATGCTATGCTT
AGATTAGGGGTTTTGCAACCTGAGGTCTATAAACAAAGTCTTCCTGGAAGTAATTGTAAGCATCCTGAAATAAAAAAGCAAGAATATGAAGAAGTAGTTC
AGACTGTTAATACAGATTTCTCTCCATATCTGATTTCAGATAACTTAGAACAGCCTATGGGAAGTAGTCATGCATCTCAGGTTTGTTCTGAGACACCTGA
TGACCTGTTAGATGATGGTGAAATAAAGGAAGATACTAGTTTTGCTGAAAATGACATTAAGGAAAGTTCTGCTGTTTTTAGCAAAAGCGTCCAGAAAGGA
GAGCTTAGCAGGAGTCCTAGCCCTTTCACCCATACACATTTGGCTCAGGGTTACCGAAGAGGGGCCAAGAAATTAGAGTCCTCAGAAGAGAACTTATCTA
GTGAGGATGAAGAGCTTCCCTGCTTCCAACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCGAGTG
TCTGTCTAAGAACACAGAGGAGAATTTATTATCATTGAAGAATAGCTTAAATGACTGCAGTAACCAGGTAATATTGGCAAAGGCATCTCAGGAACATCAC
CTTAGTGAGGAAACAAAATGTTCTGCTAGCTTGTTTTCTTCACAGTGCAGTGAATTGGAAGACTTGACTGCAAATACAAACACCCAGGATCCTTTCTTGA
TTGGTTCTTCCAAACAAATGAGGCATCAGTCTGAAAGCCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTT
GGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGG
CTATCCTCTCAGAGTGACATTTTAACCACTCAGCAGAGGGATACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGT
TAGAACAGCATGGGAGCCAGCCTTCTAACAGCTACCCTTCCATCATAAGTGACTCTTCTGCCCTTGAGGACCTGCGAAATCCAGAACAAAGCACATCAGA
AAAAGCAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAAGTTTGAGGTGTCTGCAGATAGTTCT
ACCAGTAAAAATAAAGAACCAGGAGTGGAAAGGTCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTC
AGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATC
TTACTTGCCAAGGCAAGATCTAGAGGGAACCCCTTACCTGGAATCTGGAATCAGCCTCTTCTCTGATGACCCTGAATCTGATCCTTCTGAAGACAGAGCC
CCAGAGTCAGCTCGTGTTGGCAACATACCATCTTCAACCTCTGCATTGAAAGTTCCCCAATTGAAAGTTGCAGAATCTGCCCAGAGTCCAGCTGCTGCTC
ATACTACTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACAAAAGAATGTC
CATGGTGGTGTCTGGCCTGACCCCAGAAGAATTTATGCTCGTGTACAAGTTTGCCAGAAAACACCACATCACTTTAACTAATCTAATTACTGAAGAGACT
ACTCATGTTGTTATGAAAACAG
ATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCT
GGGTGACCCAGTCTATTAAAGAAAGAAAAATGCTGAATGAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCG
AGCAAGAGAATCCCAGGACAGAAAGATCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGATCAACTGGAATGGATGGTA
CAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGGTGTCCACCCAATTGTGGTTGTGCAGCCAGATGCCTGGACAGAGG
ACAATGGCTTCCATGCAATTGGGCAGATGTGTGAGGCACCTGTGGTGACCCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGA
CACCTACCTGATACCCCAGATCCCCCACAGCCACTACTGACTGCAGCCAGCCACAGGTACAGAGCCACAGGACCCCAAGAATGAGCTTACAAAGTGGCCT
TTCCAGGCCCTGGGAGCTCCTCTCACTCTTCAGTCCTTCTACTGTCCTGGCTACTAAATATTTTATGTACATCAGCCTGAAAAGGACTTCTGGCTATGCA
AGGGTCCCTTAAAGATTTTCTGCTTGAAGTCTCCCTTGGAAATCTGCCATGAGCACAAAATTATGGTAATTTTTCACCTGAGAAGATTTTAAAACCATTT
AAACGCCACCAATTGAGCAAGATGCTGATTCATTATTTATCAGCCCTATTCTTTCTATTCAGGCTGTTGTTGGCTTAGGGCTGGAAGCACAGAGTGGCTT
GGCCTCAAGAGAATAGCTGGTTTCCCTAAGTTTACTTCTCTAAAACCCTGTGTTCACAAAGGCAGAGAGTCAGACCCTTCAATGGAAGGAGAGTGCTTGG
GATCGATTATGTGACTTAAAGTCAGAATAGTCCTTGGGCAGTTCTCAAATGTTGGAGTGGAACATTGGGGAGGAAATTCTGAGGCAGGTATTAGAAATGA
AAAGGAAACTTGAAACCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTGGAGGTCAGGAGTTCGAAACC
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAGAAATTAGCCGGTCATGGTGGTGGACACCTGTAATCCCAGCTACTCAGGTGGCTAAG
GCAGGAGAATCACTTCAGCCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCATACCACGGCACTCCAGCCTGGGTGACAGTGAGACTGTGGCTCAAAAAA
AAAAAAAAAAAAAGGAAAATGAAACTAGAAGAGATTTCTAAAAGTCTGAGATATATTTGCTAGATTTCTAAAGAATGTGTTCTAAAACAGCAGAAGATTT
TCAAGAACCGGTTTCCAAAGACAGTCTTCTAATTCCTCATTAGTAATAAGTAAAATGTTTATTGTTGTAGCTCTGGTATATAATCCATTCCTCTTAAAAT
ATAAGACCTCTGGCATGAATATTTCATATCTATAAAATGACAGATCCCACCAGGAAGGAAGCTGTTGCTTTCTTTGAGGTGATTTTTTTCCTTTGCTCCC
TGTTGCTGAAACCATACAGCTTCATAAATAATTTTGCTTGCTGAAGGAAGAAAAAGTGTTTTTCATAAACCCATTATCCAGGACTGTTTATAGCTGTTGG
AAGGACTAGGTCTTCCCTAGCCCCCCCAGTGTGCAAGGGCAGTGAAGACTTGATTGTACAAAATACGTTTTGTAAATGTTGTGCTGTTAACACTGCAAAT
AAACTTGGTAGCAAACACTTCCA
  • BRCA1-F1 (forward primer)
  • BRCA1-10 (reverse primer)
  • Multiple exon skipping

Frame 0

VP*FRILRGCCLAVAPWFPWQRKSAGITDKLKL
RLRGVSSLRLPGRGTGCGVSQITGPLRSGGLHPL
LWVKFIGTERNGFICSSR*RSTKCH*CYAENLR
VSHLSGVDQGTCLHKV*PHILQGLTLLSQLEYS
GAIMRLTVALTS*AQAILSPQSPK*LGLFCMLKL
LNQKKGPSQCPLCKNDITKRSLQESTRFSQLVE
ELLKIICAFQLDTGLEYANSYNFAKKENNSPEH
LKDEVSIIQSMGYRNRAKRLLQSEPENPSLQETS
LSVQLSNLGTVRTLRTKQRIQPQKTSVYIELGS
DSSEDTVNKATYCSVGDQELLQITPQGTRDEIS
LDSAKKAACEFSETDVTNTEHHQPSNNDLNTTEK
RAAERHPEKYQGSSVSNLHVEPCGTNTHASSLQ
HENSSLLLTKDRMNVEKAEFCNKSKQPGLARSQ
HNRWAGSKETCNDRRTPSTEKKVDLNADPLCERK
EWNKQKLPCSENPRDTEDVPWITLNSSIQKVNE
WFSRSDELLGSDDSHDGESESNAKVADVLDVLN
EVDEYSGSSEKIDLLASDPHEALICKSERVHSKS
VESNIEDKIFGKTYRKKASLPNLSHVTENLIIG
AFVTEPQIIQERPLTNKLKRKRRPTSGLHPEDF
IKKADLAVQKTPEMINQGTNQTEQNGQVMNITNS
GHENKTKGDSIQNEKNPNPIESLEKESAFKTKA
EPISSSISNMELELNIHNSKAPKKNRLRRKSST
RHIHALELVVSRNLSPPNCTELQIDSCSSSEEIK
KKKYNQMPVRHSRNLQLMEGKEPATGAKKSNKP
NEQTSKRHDSDTFPELKLTNAPGSFTKCSNTSE
LKEFVNPSLPREEKEEKLETVKVSNNAEDPKDLM
LSGERVLQTERSVESSSISLVPGTDYGTQESIS
LLEVSTLGKAKTEPNKCVSQCAAFENPKGLIHG
CSKDNRNDTEGFKYPLGHEVNHSRETSIEMEESE
LDAQYLQNTFKVSKRQSFAPFSNPGNAEEECAT
FSAHSGSLKKQSPKVTFECEQKEENQGKNESNI
KPVQTVNITAGFPVVGQKDKPVDNAKCSIKGGSR
FCLSSQFRGNETGLITPNKHGLLQNPYRIPPLF
PIKSFVKTKCKKNLLEENFEEHSMSPEREMGNE
NIPSTVSTISRNNIRENVFKEASSSNINEVGSST
NEVGSSINEIGSSDENIQAELGRNRGPKLNAML
RLGVLQPEVYKQSLPGSNCKHPEIKKQEYEEVV
QTVNTDFSPYLISDNLEQPMGSSHASQVCSETPD
DLLDDGEIKEDTSFAENDIKESSAVFSKSVQKG
ELSRSPSPFTHTHLAQGYRRGAKKLESSEENLS
SEDEELPCFQHLLFGKVNNIPSQSTRHSTVATEC
LSKNTEENLLSLKNSLNDCSNQVILAKASQEHH
LSEETKCSASLFSSQCSELEDLTANTNTQDPFL
IGSSKQMRHQSESQGVGLSDKELVSDDEERGTGL
EENNQEEQSMDSNLGEAASGCESETSVSEDCSG
LSSQSDILTTQQRDTMQHNLIKLQQEMAELEAV
LEQHGSQPSNSYPSIISDSSALEDLRNPEQSTSE
KAVLTSQKSSEYPISQNPEGLSADKFEVSADSS
TSKNKEPGVERSSPSKCPSLDDRWYMHSCSGSL
QNRNYPSQEELIKVVDVEEQQLEESGPHDLTETS
YLPRQDLEGTPYLESGISLFSDDPESDPSEDRA
PESARVGNIPSSTSALKVPQLKVAESAQSPAAA
HTTDTAGYNAMEESVSREKPELTASTERVNKRMS
MVVSGLTPEEFMLVYKFARKHHITLTNLITEET
THVVMKT
DAEFVCERTLKYFLGIAGGKWVVSYF
WVTQSIKERKMLNEHDFEVRGDVVNGRNHQGPKR
ARESQDRKIFRGLEICCYGPFTNMPTDQLEWMV
QLCGASVVKELSSFTLGTGVHPIVVVQPDAWTE
DNGFHAIGQMCEAPVVTREWVLDSVALYQCQELD
TYLIPQIPHSHY*LQPATGTEPQDPKNELTKWP
FQALGAPLTLQSFYCPGY*IFYVHQPEKDFWLC
KGPLKIFCLKSPLEICHEHKIMVIFHLRRF*NHL
NATN*ARC*FIIYQPYSFYSGCCWLRAGSTEWL
GLKRIAGFPKFTSLKPCVHKGRESDPSMEGECL
GSIM*LKVRIVLGQFSNVGVEHWGGNSEAGIRNE
KET*NLGMVAHACNPSTLGGQGGQITGGQEFET
SLANMVKPHLY*KYRN*PVMVVDTCNPSYSGG*
GRRITSAREVEVAVSQDHTTALQPG*Q*DCGSKK
KKKKGK*N*KRFLKV*DIFARFLKNVF*NSRRF
SRTGFQRQSSNSSLVISKMFIVVALVYNPFLLK
YKTSGMNISYL*NDRSHQEGSCCFL*GDFFPLLP
VAETIQLHK*FCLLKEEKVFFINPLSRTVYSCW
KD*VFPSPPSVQGQ*RLDCTKYVL*MLCC*HCK
*TW*QTLP

Frame 1

YLDFVF*EAAA*R*PLGFRGNGKARELQIN*NC
DCAA*AR*DFLDGGQAVGFLR*LGPCAQEAFTL
CSG*SSLEQKEMDLSALRVEEVQNVINAMQKILE
CPICLELIKEPVSTKCDHIFCKVLLCCPSWSTV
VRS*GLLLP*PPRLKRSYHLSLPSSWDYFAC*N
FSTRRKGLHSVLYVRMI*PKGAYKKVRDLVNLLK
SY*KSFVLFSLTQVWSMQTAIILQKRKITLLNI
*KMKFLSSKVWATETVPKDFYRVNPKILPCRKP
VSVSNSLTLEL*EL*GQSSGYNLKRRLSTLNWDL
ILLKIPLIRQLIAVWEIKNCYKSPLKEPGMKSV
WILQKRLLVNFLRRM*QILNIINPVIMI*TPLR
SVQLRGIQKSIRVVLFQTCMWSHVAQILMPAHYS
MRTAVYYSLKTE*M*KRLNSVIKANSLA*QGAN
ITDGLEVRKHVMIGGLPAQKKR*I*MLIPCVRE
KNGISRNCHAQRILEILKMFLG*H*IAAFRKLMS
GFPEVMNC*VLMTHMMGSLNQMPK*LMYWTF*M
R*MNILVLQRK*TYWPVILMRL*YVKVKEFTPN
Q*RVILKTKYLGKPIGRRQASPT*AM*LKI*L*E
HLLLSHR*YKSVPSQIN*SVKGDLHQAFILRIL
SRKQIWQFKRLLK**IRELTKRSRMVK**ILLI
VVMRIKQKVILFRMRKILTQ*NHSKKNLLSKRKL
NL*AAV*AIWNSN*ISTIQKHLKRIG*GGSLLP
GIFMRLN**SVEI*AHLIVLNCKLIVVLAVKR*
RKKSTTKCQSGTAETYNSWKVKNLQLEPRRVTSQ
MNRQVKDMTAILSQS*S*QMHLVLLLSVQIPVN
LKNLSILAFQEKKKKRN*KQLKCLIMLKTPKIS
C*VEKGFCKLKDL*RVAVFHWYLVLIMALRKVSR
YWKLAL*GRQKQNQINV*VSVQHLKTPRD*FMV
VPKIIEMTQKALSIHWDMKLTTVGKQA*KWKKV
NLMLSICRIHSRFQSASHLLRFQIQEMQKRNVQH
SLPTLGP*RNKVQKSLLNVNKRKKIKERMSLIS
SLYRQLISLQAFLWLVRKISQLIMPNVVSKEAL
GFVYHLSSEATKLDSLLQINMDFYKTHIVYHHFF
PSSHLLKLNVRKIC*RKTLRNIQCHLKEKWEMR
TFQVQ*AQLAVITLEKMFLKKPAQAILMK*VPV
LMKWAPVLMK*VPVMKTFKQN*VETEGQN*MLCL
D*GFCNLRSINKVFLEVIVSILK*KSKNMKK*F
RLLIQISLHI*FQIT*NSLWEVVMHLRFVLRHL
MTC*MMVK*RKILVLLKMTLRKVLLFLAKASRKE
SLAGVLALSPIHIWLRVTEEGPRN*SPQKRTYL
VRMKSFPASNTCYLVK*TIYLLSLLGIAPLLPS
VCLRTQRRIYYH*RIA*MTAVTR*YWQRHLRNIT
LVRKQNVLLACFLHSAVNWKT*LQIQTPRILS*
LVLPNK*GISLKARELV*VTRNWFQMMKKEERA
WKKIIKKSKAWIQT*VKQHLGVRVKQASLKTAQG
YPLRVTF*PLSRGIPCNIT**SSSRKWLN*KLC
*NSMGASLLTATLPS*VTLLPLRTCEIQNKAHQ
KKQY*LHRKVVNTL*ARIQKAFLLTSLRCLQIVL
PVKIKNQEWKGHPLLNAHH*MIGGTCTVALGVF
RIETTHLKRSSLRLLMWRSNSWKSLGHTI*RKH
LTCQGKI*REPLTWNLESASSLMTLNLILLKTEP
QSQLVLATYHLQPLH*KFPN*KLQNLPRVQLLL
ILLILLGIMQWKKV*AGRSQN*QLQQKGSTKEC
PWWCLA*PQKNLCSCTSLPENTTSL*LI*LLKRL
LMLL*KQ
MLSLCVNGH*NIF*ELREENG*LAIS
G*PSLLKKEKC*MSMILKSEEMWSMEETTKVQS
EQENPRTERSSGG*KSVAMGPSPTCPQINWNGWY
SCVVLLW*RSFHHSPLAQVSTQLWLCSQMPGQR
TMASMQLGRCVRHLW*PESGCWTV*HSTSARSW
TPT*YPRSPTATTDCSQPQVQSHRTPRMSLQSGL
SRPWELLSLFSPSTVLATKYFMYISLKRTSGYA
RVP*RFSA*SLPWKSAMSTKLW*FFT*EDFKTI
*TPPIEQDADSLFISPILSIQAVVGLGLEAQSGL
ASRE*LVSLSLLL*NPVFTKAESQTLQWKESAW
DRLCDLKSE*SLGSSQMLEWNIGEEILRQVLEM
KRKLETWAWWLTPVIPALWEAKVGRSLEVRSSKP
AWPTW*NPISTKNTEISRSWWWTPVIPATQVAK
AGESLQPGRWRLQ*AKIIPRHSSLGDSETVAQK
KKKKKENETRRDF*KSEIYLLDF*RMCSKTAEDF
QEPVSKDSLLIPH***VKCLLL*LWYIIHSS*N
IRPLA*IFHIYKMTDPTRKEAVAFFEVIFFLCS
LLLKPYSFINNFAC*RKKKCFS*THYPGLFIAVG
RTRSSLAPPVCKGSEDLIVQNTFCKCCAVNTAN
KLGSKHF

Frame 2

TLISYSERLLLSGSPLVSVATEKRGNYR*IKTA
TARRELAETSWTGDRLWGFSDNWAPALRRPSPS
ALGKVHWNRKKWIYLLFALKKYKMSLMLCRKS*
SVPSVWS*SRNLSPQSVTTYFARSYSVVPAGVQW
CDHEAYCCLDLLGSSDPITSVSQVAGTILHAET
SQPEERAFTVSFM*E*YNQKEPTRKYEI*STC*
RAIENHLCFSA*HRFGVCKQL*FCKKGK*LS*TS
KR*SFYHPKYGLQKPCQKTSTE*TRKSFLAGNQ
SQCPTL*PWNCENSEDKAADTTSKDVCLH*IGI
*FF*RYR**GNLLQCGRSRIVTNHPSRNQG*NQF
GFCKKGCL*IF*DGCNKY*TSSTQ***FEHH*E
ACS*EASRKVSG*FCFKLACGAMWHKYSCQLIT
A*EQQFITH*RQNECRKG*IL**KQTAWLSKEPT
*QMGWK*GNM***ADSQHRKKGRSEC*SPV*EK
RME*AETAMLRES*RY*RCSLDNTK*QHSES**
VVFQK**TVRF**LT*WGV*IKCQSS*CIGRSK*
GR*IFWFFRENRLTGQ*SS*GFNM*K*KSSLQI
SRE*Y*RQNIWENLSEEGKPPQLKPCN*KSNYR
SICY*ATDNTRASPHK*IKA*KETYIRPSS*GFY
QESRFGSSKDS*NDKSGN*PNGAEWSSDEYY**
WS*E*NKR*FYSE*EKS*PNRITRKRICFQNES
*TYKQQYKQYGTRIKYPQFKST*KE*AEEEVFYQ
AYSCA*TSSQ*KSKPT*LY*IAN**LF*Q*RDK
EKKVQPNASQAQQKPTTHGR*RTCNWSQEE*QA
K*TDK*KT*QRYFPRAEVNKCTWFFY*VFKYQ*T
*RICQS*PSKRRKRRETRNS*SV**C*RPQRSH
VKWRKGFAN*KICRE*QYFIGTWY*LWHSGKYL
VTGS*HSREGKNRTK*MCESVCSI*KPQGTNSWL
FQR**K*HRRL*VSIGT*S*PQSGNKHRNGRK*
T*CSVFAEYIQGFKAPVICSVFKSRKCRRGMCN
ILCPLWVLKETKSKSHF*M*TKGRKSRKE*V*YQ
ACTDS*YHCRLSCGWSER*AS**CQM*YQRRL*
VLSIISVQRQRNWTHYSK*TWTFTKPISYTTTF
SHQVIC*N*M*EKSARGKL*GTFNVT*KRNGK*E
HSKYSEHN*P**H*RKCF*RSQLKQY**SRFQY
**SGLQY**NRFQ**KHSSRTR*KQRAKIECYA
*IRGFAT*GL*TKSSWK*L*AS*NKKARI*RSSS
DC*YRFLSISDFR*LRTAYGK*SCISGLF*DT*
*PVR*W*NKGRY*FC*K*H*GKFCCF*QKRPER
RA*QES*PFHPYTFGSGLPKRGQEIRVLRRELI*
*G*RASLLPTLVIW*SKQYTFSVY*A*HRCYRV
SV*EHRGEFIIIEE*LK*LQ*PGNIGKGISGTS
P**GNKMFC*LVFFTVQ*IGRLDCKYKHPGSFLD
WFFQTNEASV*KPGSWSE*QGIGFR**RKRNGL
GRK*SRRAKHGFKLR*SSIWV*E*NKRL*RLLR
AILSE*HFNHSAEGYHAT*PDKAPAGNG*TRSCV
RTAWEPAF*QLPFHHK*LFCP*GPAKSRTKHIR
KSSINFTEK**IPYKPESRRPFC*QV*GVCR*F
YQ*K*RTRSGKVIPF*MPIIR**VVHAQLLWESS
E*KLPISRGAH*GC*CGGATAGRVWATRFDGNI
LLAKARSRGNPLPGIWNQPLL**P*I*SF*RQS
PRVSSCWQHTIFNLCIESSPIESCRICPESSCCS
YY*YCWV*CNGRKCEQGEARIDSFNRKGQQKNV
HGGVWPDPRRIYARVQVCQKTPHHFN*SNY*RD
YSCCYENR
C*VCV*TDTEIFSRNCGRKMGS*LFL
GDPVY*RKKNAE*A*F*SQRRCGQWKKPPRSKA
SKRIPGQKDLQGARNLLLWALHQHAHRSTGMDG
TAVWCFCGEGAFIIHPWHRCPPNCGCAARCLDRG
QWLPCNWADV*GTCGDPRVGVGQCSTLPVPGAG
HLPDTPDPPQPLLTAASHRYRATGPQE*AYKVA
FPGPGSSSHSSVLLLSWLLNILCTSA*KGLLAMQ
GSLKDFLLEVSLGNLP*AQNYGNFSPEKILKPF
KRHQLSKMLIHYLSALFFLFRLLLA*GWKHRVA
WPQENSWFP*VYFSKTLCSQRQRVRPFNGRRVLG
IDYVT*SQNSPWAVLKCWSGTLGRKF*GRY*K*
KGNLKPGHGGSRL*SQHFGRPRWADHWRSGVRN
QPGQHGETPSLLKIQKLAGHGGGHL*SQLLRWLR
QENHFSPGGGGCSEPRSYHGTPAWVTVRLWLKK
KKKKRKMKLEEISKSLRYIC*ISKECVLKQQKI
FKNRFPKTVF*FLISNK*NVYCCSSGI*SIPLKI
*DLWHEYFISIK*QIPPGRKLLLSLR*FFSFAP
CC*NHTAS*IILLAEGRKSVFHKPIIQDCL*LL
EGLGLP*PPQCARAVKT*LYKIRFVNVVLLTLQI
NLVANTS

Sequence BRCA1.dAug05

GTACCTTGATTTCGTATTCTGAGAGGCTGCTGCTTAGCGGTAGCCCCTTGGTTTCCGTGGCAACGGAAAAGCGCGGGAATTACAGATAAATTAAAACTGC
GACTGCGCGGCGTGAGCTCGCTGAGACTTCCTGGACGGGGGACAGGCTGTGGGGTTTCTCAGATAACTGGGCCCCTGCGCTCAGGAGGCCTTCACCCTCT
GCTCTGGGTAAAGTTCATTGGAACAGAAAGAAATGGATTTATCTGCTCTTCGCGTTGAAGAAGTACAAAATGTCATTAATGCTATGCAGAAAATCTTAGA
GTGTCCCATCTGTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAATTTTGCATGCTGAAACTTCTCAACCAGAAGAAA
GGGCCTTCACAGTGTCCTTTATGTAAGAATGATATAACCAAAAGGAGCCTACAAGAAAGTACGAGATTTAGTCAACTTGTTGAAGAGCTATTGAAAATCA
TTTGTGCTTTTCAGCTTGACACAGGTTTGGAGTATGCAAACAGCTATAATTTTGCAAAAAAGGAAAATAACTCTCCTGAACATCTAAAAGATGAAGTTTC
TATCATCCAAAGTATGGGCTACAGAAACCGTGCCAAAAGACTTCTACAGAGTGAACCCGAAAATCCTTCCTTGCAGGAAACCAGTCTCAGTGTCCAACTC
TCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAGACGTCTGTCTACATTGAATTGGCTGCTTGTGAATTTTCTGAGA
CGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAG
TTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATG
AATGTAGAAAAGGCTGAATTCTGTAATAAAAGCAAACAGCCTGGCTTAGCAAGGAGCCAACATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATA
GGCGGACTCCCAGCACAGAAAAAAAGGTAGATCTGAATGCTGATCCCCTGTGTGAGAGAAAAGAATGGAATAAGCAGAAACTGCCATGCTCAGAGAATCC
TAGAGATACTGAAGATGTTCCTTGGATAACACTAAATAGCAGCATTCAGAAAGTTAATGAGTGGTTTTCCAGAAGTGATGAACTGTTAGGTTCTGATGAC
TCACATGATGGGGAGTCTGAATCAAATGCCAAAGTAGCTGATGTATTGGACGTTCTAAATGAGGTAGATGAATATTCTGGTTCTTCAGAGAAAATAGACT
TACTGGCCAGTGATCCTCATGAGGCTTTAATATGTAAAAGTGAAAGAGTTCACTCCAAATCAGTAGAGAGTAATATTGAAGACAAAATATTTGGGAAAAC
CTATCGGAAGAAGGCAAGCCTCCCCAACTTAAGCCATGTAACTGAAAATCTAATTATAGGAGCATTTGTTACTGAGCCACAGATAATACAAGAGCGTCCC
CTCACAAATAAATTAAAGCGTAAAAGGAGACCTACATCAGGCCTTCATCCTGAGGATTTTATCAAGAAAGCAGATTTGGCAGTTCAAAAGACTCCTGAAA
TGATAAATCAGGGAACTAACCAAACGGAGCAGAATGGTCAAGTGATGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAA
TGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAA
TTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTCATGCGCTTGAACTAGTAGTCAGTAGAAATC
TAAGCCCACCTAATTGTACTGAATTGCAAATTGATAGTTGTTCTAGCAGTGAAGAGATAAAGAAAAAAAAGTACAACCAAATGCCAGTCAGGCACAGCAG
AAACCTACAACTCATGGAAGGTAAAGAACCTGCAACTGGAGCCAAGAAGAGTAACAAGCCAAATGAACAGACAAGTAAAAGACATGACAGCGATACTTTC
CCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCTAGCCTTCCAAGAGAAGAAA
AAGAAGAGAAACTAGAAACAGTTAAAGTGTCTAATAATGCTGAAGACCCCAAAGATCTCATGTTAAGTGGAGAAAGGGTTTTGCAAACTGAAAGATCTGT
AGAGAGTAGCAGTATTTCATTGGTACCTGGTACTGATTATGGCACTCAGGAAAGTATCTCGTTACTGGAAGTTAGCACTCTAGGGAAGGCAAAAACAGAA
CCAAATAAATGTGTGAGTCAGTGTGCAGCATTTGAAAACCCCAAGGGACTAATTCATGGTTGTTCCAAAGATAATAGAAATGACACAGAAGGCTTTAAGT
ATCCATTGGGACATGAAGTTAACCACAGTCGGGAAACAAGCATAGAAATGGAAGAAAGTGAACTTGATGCTCAGTATTTGCAGAATACATTCAAGGTTTC
AAAGCGCCAGTCATTTGCTCCGTTTTCAAATCCAGGAAATGCAGAAGAGGAATGTGCAACATTCTCTGCCCACTCTGGGTCCTTAAAGAAACAAAGTCCA
AAAGTCACTTTTGAATGTGAACAAAAGGAAGAAAATCAAGGAAAGAATGAGTCTAATATCAAGCCTGTACAGACAGTTAATATCACTGCAGGCTTTCCTG
TGGTTGGTCAGAAAGATAAGCCAGTTGATAATGCCAAATGTAGTATCAAAGGAGGCTCTAGGTTTTGTCTATCATCTCAGTTCAGAGGCAACGAAACTGG
ACTCATTACTCCAAATAAACATGGACTTTTACAAAACCCATATCGTATACCACCACTTTTTCCCATCAAGTCATTTGTTAAAACTAAATGTAAGAAAAAT
CTGCTAGAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAACATTCCAAGTACAGTGAGCACAATTAGCCGTAATAACA
TTAGAGAAAATGTTTTTAAAGAAGCCAGCTCAAGCAATATTAATGAAGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATTAATGAAATAGGTTCCAG
TGATGAAAACATTCAAGCAGAACTAGGTAGAAACAGAGGGCCAAAATTGAATGCTATGCTTAGATTAGGGGTTTTGCAACCTGAGGTCTATAAACAAAGT
CTTCCTGGAAGTAATTGTAAGCATCCTGAAATAAAAAAGCAAGAATATGAAGAAGTAGTTCAGACTGTTAATACAGATTTCTCTCCATATCTGATTTCAG
ATAACTTAGAACAGCCTATGGGAAGTAGTCATGCATCTCAGGTTTGTTCTGAGACACCTGATGACCTGTTAGATGATGGTGAAATAAAGGAAGATACTAG
TTTTGCTGAAAATGACATTAAGGAAAGTTCTGCTGTTTTTAGCAAAAGCGTCCAGAAAGGAGAGCTTAGCAGGAGTCCTAGCCCTTTCACCCATACACAT
TTGGCTCAGGGTTACCGAAGAGGGGCCAAGAAATTAGAGTCCTCAGAAGAGAACTTATCTAGTGAGGATGAAGAGCTTCCCTGCTTCCAACACTTGTTAT
TTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCGAGTGTCTGTCTAAGAACACAGAGGAGAATTTATTATCATTGAA
GAATAGCTTAAATGACTGCAGTAACCAGGTAATATTGGCAAAGGCATCTCAGGAACATCACCTTAGTGAGGAAACAAAATGTTCTGCTAGCTTGTTTTCT
TCACAGTGCAGTGAATTGGAAGACTTGACTGCAAATACAAACACCCAGGATCCTTTCTTGATTGGTTCTTCCAAACAAATGAGGCATCAGTCTGAAAGCC
AGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAA
CTTAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGCAGAGG
GATACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAACAGCTACCCTT
CCATC
ATAAGTGACTCTTCTGCCCTTGAGGACCTGCGAAATCCAGAACAAAGCACATCAGAAAAAGCAGTATTAACTTCACAGAAAAGTAGTGAATACCC
TATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAAGTTTGAGGTGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAGGTCATCC
CCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGG
TTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGAGGGAACCCCTTACCT
GGAATCTGGAATCAGCCTCTTCTCTGATGACCCTGAATCTGATCCTTCTGAAGACAGAGCCCCAGAGTCAGCTCGTGTTGGCAACATACCATCTTCAACC
TCTGCATTGAAAGTTCCCCAATTGAAAGTTGCAGAATCTGCCCAGAGTCCAGCTGCTGCTCATACTACTGATACTGCTGGGTATAATGCAATGGAAGAAA
GTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACAAAAGAATGTCCATGGTGGTGTCTGGCCTGACCCCAGAAGAATTTATGCT
CGTGTACAAGTTTGCCAGAAAACACCACATCACTTTAACTAATCTAATTACTGAAGAGACTACTCATGTTGTTATGAAAACAG
ATGCTGAGTTTGTGTGT
GAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTGGGTGACCCAGTCTATTAAAGAAAGAAAAATGCTGAATG
AGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGATCTTCAGGGGGCT
AGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCA
TTCACCCTTGGCACAGGTGTCCACCCAATTGTGGTTGTGCAGCCAGATGCCTGGACAGAGGACAATGGCTTCCATGCAATTGGGCAGATGTGTGAGGCAC
CTGTGGTGACCCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATACCCCAGATCCCCCACAGCCACTACTG
ACTGCAGCCAGCCACAGGTACAGAGCCACAGGACCCCAAGAATGAGCTTACAAAGTGGCCTTTCCAGGCCCTGGGAGCTCCTCTCACTCTTCAGTCCTTC
TACTGTCCTGGCTACTAAATATTTTATGTACATCAGCCTGAAAAGGACTTCTGGCTATGCAAGGGTCCCTTAAAGATTTTCTGCTTGAAGTCTCCCTTGG
AAATCTGCCATGAGCACAAAATTATGGTAATTTTTCACCTGAGAAGATTTTAAAACCATTTAAACGCCACCAATTGAGCAAGATGCTGATTCATTATTTA
TCAGCCCTATTCTTTCTATTCAGGCTGTTGTTGGCTTAGGGCTGGAAGCACAGAGTGGCTTGGCCTCAAGAGAATAGCTGGTTTCCCTAAGTTTACTTCT
CTAAAACCCTGTGTTCACAAAGGCAGAGAGTCAGACCCTTCAATGGAAGGAGAGTGCTTGGGATCGATTATGTGACTTAAAGTCAGAATAGTCCTTGGGC
AGTTCTCAAATGTTGGAGTGGAACATTGGGGAGGAAATTCTGAGGCAGGTATTAGAAATGAAAAGGAAACTTGAAACCTGGGCATGGTGGCTCACGCCTG
TAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTGGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAA
TACAGAAATTAGCCGGTCATGGTGGTGGACACCTGTAATCCCAGCTACTCAGGTGGCTAAGGCAGGAGAATCACTTCAGCCCGGGAGGTGGAGGTTGCAG
TGAGCCAAGATCATACCACGGCACTCCAGCCTGGGTGACAGTGAGACTGTGGCTCAAAAAAAAAAAAAAAAAAAGGAAAATGAAACTAGAAGAGATTTCT
AAAAGTCTGAGATATATTTGCTAGATTTCTAAAGAATGTGTTCTAAAACAGCAGAAGATTTTCAAGAACCGGTTTCCAAAGACAGTCTTCTAATTCCTCA
TTAGTAATAAGTAAAATGTTTATTGTTGTAGCTCTGGTATATAATCCATTCCTCTTAAAATATAAGACCTCTGGCATGAATATTTCATATCTATAAAATG
ACAGATCCCACCAGGAAGGAAGCTGTTGCTTTCTTTGAGGTGATTTTTTTCCTTTGCTCCCTGTTGCTGAAACCATACAGCTTCATAAATAATTTTGCTT
GCTGAAGGAAGAAAAAGTGTTTTTCATAAACCCATTATCCAGGACTGTTTATAGCTGTTGGAAGGACTAGGTCTTCCCTAGCCCCCCCAGTGTGCAAGGG
CAGTGAAGACTTGATTGTACAAAATACGTTTTGTAAATGTTGTGCTGTTAACACTGCAAATAAACTTGGTAGCAAACACTTCCA
  • BRCA1-F1 (forward primer)
  • BRCA1-10 (reverse primer)
  • Multiple exon skipping

Frame 0

VP*FRILRGCCLAVAPWFPWQRKSAGITDKLKL
RLRGVSSLRLPGRGTGCGVSQITGPLRSGGLHPL
LWVKFIGTERNGFICSSR*RSTKCH*CYAENLR
VSHLSGVDQGTCLHKV*PHILQILHAETSQPEE
RAFTVSFM*E*YNQKEPTRKYEI*STC*RAIENH
LCFSA*HRFGVCKQL*FCKKGK*LS*TSKR*SF
YHPKYGLQKPCQKTSTE*TRKSFLAGNQSQCPT
L*PWNCENSEDKAADTTSKDVCLH*IGCL*IF*D
GCNKY*TSSTQ***FEHH*EACS*EASRKVSG*
FCFKLACGAMWHKYSCQLITA*EQQFITH*RQN
ECRKG*IL**KQTAWLSKEPT*QMGWK*GNM***
ADSQHRKKGRSEC*SPV*EKRME*AETAMLRES
*RY*RCSLDNTK*QHSES**VVFQK**TVRF**
LT*WGV*IKCQSS*CIGRSK*GR*IFWFFRENRL
TGQ*SS*GFNM*K*KSSLQISRE*Y*RQNIWEN
LSEEGKPPQLKPCN*KSNYRSICY*ATDNTRAS
PHK*IKA*KETYIRPSS*GFYQESRFGSSKDS*N
DKSGN*PNGAEWSSDEYY**WS*E*NKR*FYSE
*EKS*PNRITRKRICFQNES*TYKQQYKQYGTR
IKYPQFKST*KE*AEEEVFYQAYSCA*TSSQ*KS
KPT*LY*IAN**LF*Q*RDKEKKVQPNASQAQQ
KPTTHGR*RTCNWSQEE*QAK*TDK*KT*QRYF
PRAEVNKCTWFFY*VFKYQ*T*RICQS*PSKRRK
RRETRNS*SV**C*RPQRSHVKWRKGFAN*KIC
RE*QYFIGTWY*LWHSGKYLVTGS*HSREGKNR
TK*MCESVCSI*KPQGTNSWLFQR**K*HRRL*V
SIGT*S*PQSGNKHRNGRK*T*CSVFAEYIQGF
KAPVICSVFKSRKCRRGMCNILCPLWVLKETKS
KSHF*M*TKGRKSRKE*V*YQACTDS*YHCRLSC
GWSER*AS**CQM*YQRRL*VLSIISVQRQRNW
THYSK*TWTFTKPISYTTTFSHQVIC*N*M*EK
SARGKL*GTFNVT*KRNGK*EHSKYSEHN*P**H
*RKCF*RSQLKQY**SRFQY**SGLQY**NRFQ
**KHSSRTR*KQRAKIECYA*IRGFAT*GL*TK
SSWK*L*AS*NKKARI*RSSSDC*YRFLSISDFR
*LRTAYGK*SCISGLF*DT**PVR*W*NKGRY*
FC*K*H*GKFCCF*QKRPERRA*QES*PFHPYT
FGSGLPKRGQEIRVLRRELI**G*RASLLPTLVI
W*SKQYTFSVY*A*HRCYRVSV*EHRGEFIIIE
E*LK*LQ*PGNIGKGISGTSP**GNKMFC*LVF
FTVQ*IGRLDCKYKHPGSFLDWFFQTNEASV*KP
GSWSE*QGIGFR**RKRNGLGRK*SRRAKHGFK
LR*SSIWV*E*NKRL*RLLRAILSE*HFNHSAE
GYHAT*PDKAPAGNG*TRSCVRTAWEPAF*QLPF
H
HK*LFCP*GPAKSRTKHIRKSSINFTEK**IP
YKPESRRPFC*QV*GVCR*FYQ*K*RTRSGKVI
PF*MPIIR**VVHAQLLWESSE*KLPISRGAH*G
C*CGGATAGRVWATRFDGNILLAKARSRGNPLP
GIWNQPLL**P*I*SF*RQSPRVSSCWQHTIFN
LCIESSPIESCRICPESSCCSYY*YCWV*CNGRK
CEQGEARIDSFNRKGQQKNVHGGVWPDPRRIYA
RVQVCQKTPHHFN*SNY*RDYSCCYENR
C*VCV
*TDTEIFSRNCGRKMGS*LFLGDPVY*RKKNAE*
A*F*SQRRCGQWKKPPRSKASKRIPGQKDLQGA
RNLLLWALHQHAHRSTGMDGTAVWCFCGEGAFI
IHPWHRCPPNCGCAARCLDRGQWLPCNWADV*GT
CGDPRVGVGQCSTLPVPGAGHLPDTPDPPQPLL
TAASHRYRATGPQE*AYKVAFPGPGSSSHSSVL
LLSWLLNILCTSA*KGLLAMQGSLKDFLLEVSLG
NLP*AQNYGNFSPEKILKPFKRHQLSKMLIHYL
SALFFLFRLLLA*GWKHRVAWPQENSWFP*VYF
SKTLCSQRQRVRPFNGRRVLGIDYVT*SQNSPWA
VLKCWSGTLGRKF*GRY*K*KGNLKPGHGGSRL
*SQHFGRPRWADHWRSGVRNQPGQHGETPSLLK
IQKLAGHGGGHL*SQLLRWLRQENHFSPGGGGCS
EPRSYHGTPAWVTVRLWLKKKKKKRKMKLEEIS
KSLRYIC*ISKECVLKQQKIFKNRFPKTVF*FL
ISNK*NVYCCSSGI*SIPLKI*DLWHEYFISIK*
QIPPGRKLLLSLR*FFSFAPCC*NHTAS*IILL
AEGRKSVFHKPIIQDCL*LLEGLGLP*PPQCAR
AVKT*LYKIRFVNVVLLTLQINLVANTS

Frame 1

YLDFVF*EAAA*R*PLGFRGNGKARELQIN*NC
DCAA*AR*DFLDGGQAVGFLR*LGPCAQEAFTL
CSG*SSLEQKEMDLSALRVEEVQNVINAMQKILE
CPICLELIKEPVSTKCDHIFCKFCMLKLLNQKK
GPSQCPLCKNDITKRSLQESTRFSQLVEELLKI
ICAFQLDTGLEYANSYNFAKKENNSPEHLKDEVS
IIQSMGYRNRAKRLLQSEPENPSLQETSLSVQL
SNLGTVRTLRTKQRIQPQKTSVYIELAACEFSE
TDVTNTEHHQPSNNDLNTTEKRAAERHPEKYQGS
SVSNLHVEPCGTNTHASSLQHENSSLLLTKDRM
NVEKAEFCNKSKQPGLARSQHNRWAGSKETCND
RRTPSTEKKVDLNADPLCERKEWNKQKLPCSENP
RDTEDVPWITLNSSIQKVNEWFSRSDELLGSDD
SHDGESESNAKVADVLDVLNEVDEYSGSSEKID
LLASDPHEALICKSERVHSKSVESNIEDKIFGKT
YRKKASLPNLSHVTENLIIGAFVTEPQIIQERP
LTNKLKRKRRPTSGLHPEDFIKKADLAVQKTPE
MINQGTNQTEQNGQVMNITNSGHENKTKGDSIQN
EKNPNPIESLEKESAFKTKAEPISSSISNMELE
LNIHNSKAPKKNRLRRKSSTRHIHALELVVSRN
LSPPNCTELQIDSCSSSEEIKKKKYNQMPVRHSR
NLQLMEGKEPATGAKKSNKPNEQTSKRHDSDTF
PELKLTNAPGSFTKCSNTSELKEFVNPSLPREE
KEEKLETVKVSNNAEDPKDLMLSGERVLQTERSV
ESSSISLVPGTDYGTQESISLLEVSTLGKAKTE
PNKCVSQCAAFENPKGLIHGCSKDNRNDTEGFK
YPLGHEVNHSRETSIEMEESELDAQYLQNTFKVS
KRQSFAPFSNPGNAEEECATFSAHSGSLKKQSP
KVTFECEQKEENQGKNESNIKPVQTVNITAGFP
VVGQKDKPVDNAKCSIKGGSRFCLSSQFRGNETG
LITPNKHGLLQNPYRIPPLFPIKSFVKTKCKKN
LLEENFEEHSMSPEREMGNENIPSTVSTISRNN
IRENVFKEASSSNINEVGSSTNEVGSSINEIGSS
DENIQAELGRNRGPKLNAMLRLGVLQPEVYKQS
LPGSNCKHPEIKKQEYEEVVQTVNTDFSPYLIS
DNLEQPMGSSHASQVCSETPDDLLDDGEIKEDTS
FAENDIKESSAVFSKSVQKGELSRSPSPFTHTH
LAQGYRRGAKKLESSEENLSSEDEELPCFQHLL
FGKVNNIPSQSTRHSTVATECLSKNTEENLLSLK
NSLNDCSNQVILAKASQEHHLSEETKCSASLFS
SQCSELEDLTANTNTQDPFLIGSSKQMRHQSES
QGVGLSDKELVSDDEERGTGLEENNQEEQSMDSN
LGEAASGCESETSVSEDCSGLSSQSDILTTQQR
DTMQHNLIKLQQEMAELEAVLEQHGSQPSNSYP
SI
ISDSSALEDLRNPEQSTSEKAVLTSQKSSEYP
ISQNPEGLSADKFEVSADSSTSKNKEPGVERSS
PSKCPSLDDRWYMHSCSGSLQNRNYPSQEELIK
VVDVEEQQLEESGPHDLTETSYLPRQDLEGTPYL
ESGISLFSDDPESDPSEDRAPESARVGNIPSST
SALKVPQLKVAESAQSPAAAHTTDTAGYNAMEE
SVSREKPELTASTERVNKRMSMVVSGLTPEEFML
VYKFARKHHITLTNLITEETTHVVMKT
DAEFVC
ERTLKYFLGIAGGKWVVSYFWVTQSIKERKMLN
EHDFEVRGDVVNGRNHQGPKRARESQDRKIFRGL
EICCYGPFTNMPTDQLEWMVQLCGASVVKELSS
FTLGTGVHPIVVVQPDAWTEDNGFHAIGQMCEA
PVVTREWVLDSVALYQCQELDTYLIPQIPHSHY*
LQPATGTEPQDPKNELTKWPFQALGAPLTLQSF
YCPGY*IFYVHQPEKDFWLCKGPLKIFCLKSPL
EICHEHKIMVIFHLRRF*NHLNATN*ARC*FIIY
QPYSFYSGCCWLRAGSTEWLGLKRIAGFPKFTS
LKPCVHKGRESDPSMEGECLGSIM*LKVRIVLG
QFSNVGVEHWGGNSEAGIRNEKET*NLGMVAHAC
NPSTLGGQGGQITGGQEFETSLANMVKPHLY*K
YRN*PVMVVDTCNPSYSGG*GRRITSAREVEVA
VSQDHTTALQPG*Q*DCGSKKKKKKGK*N*KRFL
KV*DIFARFLKNVF*NSRRFSRTGFQRQSSNSS
LVISKMFIVVALVYNPFLLKYKTSGMNISYL*N
DRSHQEGSCCFL*GDFFPLLPVAETIQLHK*FCL
LKEEKVFFINPLSRTVYSCWKD*VFPSPPSVQG
Q*RLDCTKYVL*MLCC*HCK*TW*QTLP

Frame 2

TLISYSERLLLSGSPLVSVATEKRGNYR*IKTA
TARRELAETSWTGDRLWGFSDNWAPALRRPSPS
ALGKVHWNRKKWIYLLFALKKYKMSLMLCRKS*
SVPSVWS*SRNLSPQSVTTYFANFAC*NFSTRRK
GLHSVLYVRMI*PKGAYKKVRDLVNLLKSY*KS
FVLFSLTQVWSMQTAIILQKRKITLLNI*KMKF
LSSKVWATETVPKDFYRVNPKILPCRKPVSVSNS
LTLEL*EL*GQSSGYNLKRRLSTLNWLLVNFLR
RM*QILNIINPVIMI*TPLRSVQLRGIQKSIRV
VLFQTCMWSHVAQILMPAHYSMRTAVYYSLKTE*
M*KRLNSVIKANSLA*QGANITDGLEVRKHVMI
GGLPAQKKR*I*MLIPCVREKNGISRNCHAQRI
LEILKMFLG*H*IAAFRKLMSGFPEVMNC*VLMT
HMMGSLNQMPK*LMYWTF*MR*MNILVLQRK*T
YWPVILMRL*YVKVKEFTPNQ*RVILKTKYLGK
PIGRRQASPT*AM*LKI*L*EHLLLSHR*YKSVP
SQIN*SVKGDLHQAFILRILSRKQIWQFKRLLK
**IRELTKRSRMVK**ILLIVVMRIKQKVILFR
MRKILTQ*NHSKKNLLSKRKLNL*AAV*AIWNSN
*ISTIQKHLKRIG*GGSLLPGIFMRLN**SVEI
*AHLIVLNCKLIVVLAVKR*RKKSTTKCQSGTA
ETYNSWKVKNLQLEPRRVTSQMNRQVKDMTAILS
QS*S*QMHLVLLLSVQIPVNLKNLSILAFQEKK
KKRN*KQLKCLIMLKTPKISC*VEKGFCKLKDL
*RVAVFHWYLVLIMALRKVSRYWKLAL*GRQKQN
QINV*VSVQHLKTPRD*FMVVPKIIEMTQKALS
IHWDMKLTTVGKQA*KWKKVNLMLSICRIHSRF
QSASHLLRFQIQEMQKRNVQHSLPTLGP*RNKVQ
KSLLNVNKRKKIKERMSLISSLYRQLISLQAFL
WLVRKISQLIMPNVVSKEALGFVYHLSSEATKL
DSLLQINMDFYKTHIVYHHFFPSSHLLKLNVRKI
C*RKTLRNIQCHLKEKWEMRTFQVQ*AQLAVIT
LEKMFLKKPAQAILMK*VPVLMKWAPVLMK*VP
VMKTFKQN*VETEGQN*MLCLD*GFCNLRSINKV
FLEVIVSILK*KSKNMKK*FRLLIQISLHI*FQ
IT*NSLWEVVMHLRFVLRHLMTC*MMVK*RKIL
VLLKMTLRKVLLFLAKASRKESLAGVLALSPIHI
WLRVTEEGPRN*SPQKRTYLVRMKSFPASNTCY
LVK*TIYLLSLLGIAPLLPSVCLRTQRRIYYH*
RIA*MTAVTR*YWQRHLRNITLVRKQNVLLACFL
HSAVNWKT*LQIQTPRILS*LVLPNK*GISLKA
RELV*VTRNWFQMMKKEERAWKKIIKKSKAWIQ
T*VKQHLGVRVKQASLKTAQGYPLRVTF*PLSRG
IPCNIT**SSSRKWLN*KLC*NSMGASLLTATL
PS
*VTLLPLRTCEIQNKAHQKKQY*LHRKVVNT
L*ARIQKAFLLTSLRCLQIVLPVKIKNQEWKGHP
LLNAHH*MIGGTCTVALGVFRIETTHLKRSSLR
LLMWRSNSWKSLGHTI*RKHLTCQGKI*REPLT
WNLESASSLMTLNLILLKTEPQSQLVLATYHLQP
LH*KFPN*KLQNLPRVQLLLILLILLGIMQWKK
V*AGRSQN*QLQQKGSTKECPWWCLA*PQKNLC
SCTSLPENTTSL*LI*LLKRLLMLL*KQ
MLSLCV
NGH*NIF*ELREENG*LAISG*PSLLKKEKC*M
SMILKSEEMWSMEETTKVQSEQENPRTERSSGG
*KSVAMGPSPTCPQINWNGWYSCVVLLW*RSFHH
SPLAQVSTQLWLCSQMPGQRTMASMQLGRCVRH
LW*PESGCWTV*HSTSARSWTPT*YPRSPTATT
DCSQPQVQSHRTPRMSLQSGLSRPWELLSLFSPS
TVLATKYFMYISLKRTSGYARVP*RFSA*SLPW
KSAMSTKLW*FFT*EDFKTI*TPPIEQDADSLF
ISPILSIQAVVGLGLEAQSGLASRE*LVSLSLLL
*NPVFTKAESQTLQWKESAWDRLCDLKSE*SLG
SSQMLEWNIGEEILRQVLEMKRKLETWAWWLTP
VIPALWEAKVGRSLEVRSSKPAWPTW*NPISTKN
TEISRSWWWTPVIPATQVAKAGESLQPGRWRLQ
*AKIIPRHSSLGDSETVAQKKKKKKENETRRDF
*KSEIYLLDF*RMCSKTAEDFQEPVSKDSLLIPH
***VKCLLL*LWYIIHSS*NIRPLA*IFHIYKM
TDPTRKEAVAFFEVIFFLCSLLLKPYSFINNFA
C*RKKKCFS*THYPGLFIAVGRTRSSLAPPVCKG
SEDLIVQNTFCKCCAVNTANKLGSKHF

Sequence BRCA1.cAug05

GTACCTTGATTTCGTATTCTGAGAGGCTGCTGCTTAGCGGTAGCCCCTTGGTTTCCGTGGCAACGGAAAAGCGCGGGAATTACAGATAAATTAAAACTGC
GACTGCGCGGCGTGAGCTCGCTGAGACTTCCTGGACGGGGGACAGGCTGTGGGGTTTCTCAGATAACTGGGCCCCTGCGCTCAGGAGGCCTTCACCCTCT
GCTCTGGGTAAAGTTCATTGGAACAGAAAGAAATGGATTTATCTGCTCTTCGCGTTGAAGAAGTACAAAATGTCATTAATGCTATGCAGAAAATCTTAGA
GTGTCCCATCTGTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAATTTTGCATGCTGAAACTTCTCAACCAGAAGAAA
GGGCCTTCACAGTGTCCTTTATGTAAGAATGATATAACCAAAAGGAGCCTACAAGAAAGTACGAGATTTAGTCAACTTGTTGAAGAGCTATTGAAAATCA
TTTGTGCTTTTCAGCTTGACACAGGTTTGGAGTATGCAAACAGCTATAATTTTGCAAAAAAGGAAAATAACTCTCCTGAACATCTAAAAGATGAAGTTTC
TATCATCCAAAGTATGGGCTACAGAAACCGTGCCAAAAGACTTCTACAGAGTGAACCCGAAAATCCTTCCTTGCAGGAAACCAGTCTCAGTGTCCAACTC
TCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAGACGTCTGTCTACATTGAATTGGGATCTGATTCTTCTGAAGATA
CCGTTAATAAGGCAACTTATTGCAGTGTGGGAGATCAAGAATTGTTACAAATCACCCCTCAAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAA
GGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGG
CATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTT
TATTACTCACTAAAGACAGAATGAATGTAGAAAAGGCTGAATTCTGTAATAAAAGCAAACAGCCTGGCTTAGCAAGGAGCCAACATAACAGATGGGCTGG
AAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAAGGTAGATCTGAATGCTGATCCCCTGTGTGAGAGAAAAGAATGGAATAAGCAG
AAACTGCCATGCTCAGAGAATCCTAGAGATACTGAAGATGTTCCTTGGATAACACTAAATAGCAGCATTCAGAAAGTTAATGAGTGGTTTTCCAGAAGTG
ATGAACTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGCCAAAGTAGCTGATGTATTGGACGTTCTAAATGAGGTAGATGAATATTC
TGGTTCTTCAGAGAAAATAGACTTACTGGCCAGTGATCCTCATGAGGCTTTAATATGTAAAAGTGAAAGAGTTCACTCCAAATCAGTAGAGAGTAATATT
GAAGACAAAATATTTGGGAAAACCTATCGGAAGAAGGCAAGCCTCCCCAACTTAAGCCATGTAACTGAAAATCTAATTATAGGAGCATTTGTTACTGAGC
CACAGATAATACAAGAGCGTCCCCTCACAAATAAATTAAAGCGTAAAAGGAGACCTACATCAGGCCTTCATCCTGAGGATTTTATCAAGAAAGCAGATTT
GGCAGTTCAAAAGACTCCTGAAATGATAAATCAGGGAACTAACCAAACGGAGCAGAATGGTCAAGTGATGAATATTACTAATAGTGGTCATGAGAATAAA
ACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCA
GTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTCATGCGCT
TGAACTAGTAGTCAGTAGAAATCTAAGCCCACCTAATTGTACTGAATTGCAAATTGATAGTTGTTCTAGCAGTGAAGAGATAAAGAAAAAAAAGTACAAC
CAAATGCCAGTCAGGCACAGCAGAAACCTACAACTCATGGAAGGTAAAGAACCTGCAACTGGAGCCAAGAAGAGTAACAAGCCAAATGAACAGACAAGTA
AAAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAA
TCCTAGCCTTCCAAGAGAAGAAAAAGAAGAGAAACTAGAAACAGTTAAAGTGTCTAATAATGCTGAAGACCCCAAAGATCTCATGTTAAGTGGAGAAAGG
GTTTTGCAAACTGAAAGATCTGTAGAGAGTAGCAGTATTTCATTGGTACCTGGTACTGATTATGGCACTCAGGAAAGTATCTCGTTACTGGAAGTTAGCA
CTCTAGGGAAGGCAAAAACAGAACCAAATAAATGTGTGAGTCAGTGTGCAGCATTTGAAAACCCCAAGGGACTAATTCATGGTTGTTCCAAAGATAATAG
AAATGACACAGAAGGCTTTAAGTATCCATTGGGACATGAAGTTAACCACAGTCGGGAAACAAGCATAGAAATGGAAGAAAGTGAACTTGATGCTCAGTAT
TTGCAGAATACATTCAAGGTTTCAAAGCGCCAGTCATTTGCTCCGTTTTCAAATCCAGGAAATGCAGAAGAGGAATGTGCAACATTCTCTGCCCACTCTG
GGTCCTTAAAGAAACAAAGTCCAAAAGTCACTTTTGAATGTGAACAAAAGGAAGAAAATCAAGGAAAGAATGAGTCTAATATCAAGCCTGTACAGACAGT
TAATATCACTGCAGGCTTTCCTGTGGTTGGTCAGAAAGATAAGCCAGTTGATAATGCCAAATGTAGTATCAAAGGAGGCTCTAGGTTTTGTCTATCATCT
CAGTTCAGAGGCAACGAAACTGGACTCATTACTCCAAATAAACATGGACTTTTACAAAACCCATATCGTATACCACCACTTTTTCCCATCAAGTCATTTG
TTAAAACTAAATGTAAGAAAAATCTGCTAGAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAACATTCCAAGTACAGT
GAGCACAATTAGCCGTAATAACATTAGAGAAAATGTTTTTAAAGAAGCCAGCTCAAGCAATATTAATGAAGTAGGTTCCAGTACTAATGAAGTGGGCTCC
AGTATTAATGAAATAGGTTCCAGTGATGAAAACATTCAAGCAGAACTAGGTAGAAACAGAGGGCCAAAATTGAATGCTATGCTTAGATTAGGGGTTTTGC
AACCTGAGGTCTATAAACAAAGTCTTCCTGGAAGTAATTGTAAGCATCCTGAAATAAAAAAGCAAGAATATGAAGAAGTAGTTCAGACTGTTAATACAGA
TTTCTCTCCATATCTGATTTCAGATAACTTAGAACAGCCTATGGGAAGTAGTCATGCATCTCAGGTTTGTTCTGAGACACCTGATGACCTGTTAGATGAT
GGTGAAATAAAGGAAGATACTAGTTTTGCTGAAAATGACATTAAGGAAAGTTCTGCTGTTTTTAGCAAAAGCGTCCAGAAAGGAGAGCTTAGCAGGAGTC
CTAGCCCTTTCACCCATACACATTTGGCTCAGGGTTACCGAAGAGGGGCCAAGAAATTAGAGTCCTCAGAAGAGAACTTATCTAGTGAGGATGAAGAGCT
TCCCTGCTTCCAACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCGAGTGTCTGTCTAAGAACACA
GAGGAGAATTTATTATCATTGAAGAATAGCTTAAATGACTGCAGTAACCAGGTAATATTGGCAAAGGCATCTCAGGAACATCACCTTAGTGAGGAAACAA
AATGTTCTGCTAGCTTGTTTTCTTCACAGTGCAGTGAATTGGAAGACTTGACTGCAAATACAAACACCCAGGATCCTTTCTTGATTGGTTCTTCCAAACA
AATGAGGCATCAGTCTGAAAGCCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAA
GAAGAGCAAAGCATGGATTCAAACTTAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTG
ACATTTTAACCACTCAGCAGAGGGATACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG
CCAGCCTTCTAACAGCTACCCTTCCATCATAAGTGACTCTTCTGCCCTTGAGGACCTGCGAAATCCAGAACAAAGCACATCAGAAAAAGCAGTATTAACT
TCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAAGTTTGAGGTGTCTGCAGATAGTTCTACCAGTAAAAATAAAG
AACCAGGAGTGGAAAGGTCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCC
ATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAA
GATCTAGAGGGAACCCCTTACCTGGAATCTGGAATCAGCCTCTTCTCTGATGACCCTGAATCTGATCCTTCTGAAGACAGAGCCCCAGAGTCAGCTCGTG
TTGGCAACATACCATCTTCAACCTCTGCATTGAAAGTTCCCCAATTGAAAGTTGCAGAATCTGCCCAGAGTCCAGCTGCTGCTCATACTACTGATACTGC
TGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACAAAAGAATGTCCATGGTGGTGTCTGGC
CTGACCCCAGAAGAATTTATGCTCGTGTACAAGTTTGCCAGAAAACACCACATCACTTTAACTAATCTAATTACTGAAGAGACTACTCATGTTGTTATGA
AAACAG
ATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTGGGTGACCCAGTCTAT
TAAAGAAAGAAAAATGCTGAATGAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAG
GACAGAAAGATCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTT
CTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGGTGTCCACCCAATTGTGGTTGTGCAGCCAGATGCCTGGACAGAGGACAATGGCTTCCATGC
AATTGGGCAGATGTGTGAGGCACCTGTGGTGACCCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATACCC
CAGATCCCCCACAGCCACTACTGACTGCAGCCAGCCACAGGTACAGAGCCACAGGACCCCAAGAATGAGCTTACAAAGTGGCCTTTCCAGGCCCTGGGAG
CTCCTCTCACTCTTCAGTCCTTCTACTGTCCTGGCTACTAAATATTTTATGTACATCAGCCTGAAAAGGACTTCTGGCTATGCAAGGGTCCCTTAAAGAT
TTTCTGCTTGAAGTCTCCCTTGGAAATCTGCCATGAGCACAAAATTATGGTAATTTTTCACCTGAGAAGATTTTAAAACCATTTAAACGCCACCAATTGA
GCAAGATGCTGATTCATTATTTATCAGCCCTATTCTTTCTATTCAGGCTGTTGTTGGCTTAGGGCTGGAAGCACAGAGTGGCTTGGCCTCAAGAGAATAG
CTGGTTTCCCTAAGTTTACTTCTCTAAAACCCTGTGTTCACAAAGGCAGAGAGTCAGACCCTTCAATGGAAGGAGAGTGCTTGGGATCGATTATGTGACT
TAAAGTCAGAATAGTCCTTGGGCAGTTCTCAAATGTTGGAGTGGAACATTGGGGAGGAAATTCTGAGGCAGGTATTAGAAATGAAAAGGAAACTTGAAAC
CTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTGGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGG
TGAAACCCCATCTCTACTAAAAATACAGAAATTAGCCGGTCATGGTGGTGGACACCTGTAATCCCAGCTACTCAGGTGGCTAAGGCAGGAGAATCACTTC
AGCCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCATACCACGGCACTCCAGCCTGGGTGACAGTGAGACTGTGGCTCAAAAAAAAAAAAAAAAAAAGGA
AAATGAAACTAGAAGAGATTTCTAAAAGTCTGAGATATATTTGCTAGATTTCTAAAGAATGTGTTCTAAAACAGCAGAAGATTTTCAAGAACCGGTTTCC
AAAGACAGTCTTCTAATTCCTCATTAGTAATAAGTAAAATGTTTATTGTTGTAGCTCTGGTATATAATCCATTCCTCTTAAAATATAAGACCTCTGGCAT
GAATATTTCATATCTATAAAATGACAGATCCCACCAGGAAGGAAGCTGTTGCTTTCTTTGAGGTGATTTTTTTCCTTTGCTCCCTGTTGCTGAAACCATA
CAGCTTCATAAATAATTTTGCTTGCTGAAGGAAGAAAAAGTGTTTTTCATAAACCCATTATCCAGGACTGTTTATAGCTGTTGGAAGGACTAGGTCTTCC
CTAGCCCCCCCAGTGTGCAAGGGCAGTGAAGACTTGATTGTACAAAATACGTTTTGTAAATGTTGTGCTGTTAACACTGCAAATAAACTTGGTAGCAAAC
ACTTCCA
  • BRCA1-F1 (forward primer)
  • BRCA1-10 (reverse primer)
  • Multiple exon skipping

Frame 0

VP*FRILRGCCLAVAPWFPWQRKSAGITDKLKL
RLRGVSSLRLPGRGTGCGVSQITGPLRSGGLHPL
LWVKFIGTERNGFICSSR*RSTKCH*CYAENLR
VSHLSGVDQGTCLHKV*PHILQILHAETSQPEE
RAFTVSFM*E*YNQKEPTRKYEI*STC*RAIENH
LCFSA*HRFGVCKQL*FCKKGK*LS*TSKR*SF
YHPKYGLQKPCQKTSTE*TRKSFLAGNQSQCPT
L*PWNCENSEDKAADTTSKDVCLH*IGI*FF*RY
R**GNLLQCGRSRIVTNHPSRNQG*NQFGFCKK
GCL*IF*DGCNKY*TSSTQ***FEHH*EACS*E
ASRKVSG*FCFKLACGAMWHKYSCQLITA*EQQF
ITH*RQNECRKG*IL**KQTAWLSKEPT*QMGW
K*GNM***ADSQHRKKGRSEC*SPV*EKRME*A
ETAMLRES*RY*RCSLDNTK*QHSES**VVFQK*
*TVRF**LT*WGV*IKCQSS*CIGRSK*GR*IF
WFFRENRLTGQ*SS*GFNM*K*KSSLQISRE*Y
*RQNIWENLSEEGKPPQLKPCN*KSNYRSICY*A
TDNTRASPHK*IKA*KETYIRPSS*GFYQESRF
GSSKDS*NDKSGN*PNGAEWSSDEYY**WS*E*
NKR*FYSE*EKS*PNRITRKRICFQNES*TYKQQ
YKQYGTRIKYPQFKST*KE*AEEEVFYQAYSCA
*TSSQ*KSKPT*LY*IAN**LF*Q*RDKEKKVQ
PNASQAQQKPTTHGR*RTCNWSQEE*QAK*TDK*
KT*QRYFPRAEVNKCTWFFY*VFKYQ*T*RICQ
S*PSKRRKRRETRNS*SV**C*RPQRSHVKWRK
GFAN*KICRE*QYFIGTWY*LWHSGKYLVTGS*H
SREGKNRTK*MCESVCSI*KPQGTNSWLFQR**
K*HRRL*VSIGT*S*PQSGNKHRNGRK*T*CSV
FAEYIQGFKAPVICSVFKSRKCRRGMCNILCPLW
VLKETKSKSHF*M*TKGRKSRKE*V*YQACTDS
*YHCRLSCGWSER*AS**CQM*YQRRL*VLSII
SVQRQRNWTHYSK*TWTFTKPISYTTTFSHQVIC
*N*M*EKSARGKL*GTFNVT*KRNGK*EHSKYS
EHN*P**H*RKCF*RSQLKQY**SRFQY**SGL
QY**NRFQ**KHSSRTR*KQRAKIECYA*IRGFA
T*GL*TKSSWK*L*AS*NKKARI*RSSSDC*YR
FLSISDFR*LRTAYGK*SCISGLF*DT**PVR*
W*NKGRY*FC*K*H*GKFCCF*QKRPERRA*QES
*PFHPYTFGSGLPKRGQEIRVLRRELI**G*RA
SLLPTLVIW*SKQYTFSVY*A*HRCYRVSV*EH
RGEFIIIEE*LK*LQ*PGNIGKGISGTSP**GNK
MFC*LVFFTVQ*IGRLDCKYKHPGSFLDWFFQT
NEASV*KPGSWSE*QGIGFR**RKRNGLGRK*S
RRAKHGFKLR*SSIWV*E*NKRL*RLLRAILSE*
HFNHSAEGYHAT*PDKAPAGNG*TRSCVRTAWE
PAF*QLPFHHK*LFCP*GPAKSRTKHIRKSSIN
FTEK**IPYKPESRRPFC*QV*GVCR*FYQ*K*R
TRSGKVIPF*MPIIR**VVHAQLLWESSE*KLP
ISRGAH*GC*CGGATAGRVWATRFDGNILLAKA
RSRGNPLPGIWNQPLL**P*I*SF*RQSPRVSSC
WQHTIFNLCIESSPIESCRICPESSCCSYY*YC
WV*CNGRKCEQGEARIDSFNRKGQQKNVHGGVW
PDPRRIYARVQVCQKTPHHFN*SNY*RDYSCCYE
NR
C*VCV*TDTEIFSRNCGRKMGS*LFLGDPVY
*RKKNAE*A*F*SQRRCGQWKKPPRSKASKRIP
GQKDLQGARNLLLWALHQHAHRSTGMDGTAVWCF
CGEGAFIIHPWHRCPPNCGCAARCLDRGQWLPC
NWADV*GTCGDPRVGVGQCSTLPVPGAGHLPDT
PDPPQPLLTAASHRYRATGPQE*AYKVAFPGPGS
SSHSSVLLLSWLLNILCTSA*KGLLAMQGSLKD
FLLEVSLGNLP*AQNYGNFSPEKILKPFKRHQL
SKMLIHYLSALFFLFRLLLA*GWKHRVAWPQENS
WFP*VYFSKTLCSQRQRVRPFNGRRVLGIDYVT
*SQNSPWAVLKCWSGTLGRKF*GRY*K*KGNLK
PGHGGSRL*SQHFGRPRWADHWRSGVRNQPGQHG
ETPSLLKIQKLAGHGGGHL*SQLLRWLRQENHF
SPGGGGCSEPRSYHGTPAWVTVRLWLKKKKKKR
KMKLEEISKSLRYIC*ISKECVLKQQKIFKNRFP
KTVF*FLISNK*NVYCCSSGI*SIPLKI*DLWH
EYFISIK*QIPPGRKLLLSLR*FFSFAPCC*NH
TAS*IILLAEGRKSVFHKPIIQDCL*LLEGLGLP
*PPQCARAVKT*LYKIRFVNVVLLTLQINLVAN
TS

Frame 1

YLDFVF*EAAA*R*PLGFRGNGKARELQIN*NC
DCAA*AR*DFLDGGQAVGFLR*LGPCAQEAFTL
CSG*SSLEQKEMDLSALRVEEVQNVINAMQKILE
CPICLELIKEPVSTKCDHIFCKFCMLKLLNQKK
GPSQCPLCKNDITKRSLQESTRFSQLVEELLKI
ICAFQLDTGLEYANSYNFAKKENNSPEHLKDEVS
IIQSMGYRNRAKRLLQSEPENPSLQETSLSVQL
SNLGTVRTLRTKQRIQPQKTSVYIELGSDSSED
TVNKATYCSVGDQELLQITPQGTRDEISLDSAKK
AACEFSETDVTNTEHHQPSNNDLNTTEKRAAER
HPEKYQGSSVSNLHVEPCGTNTHASSLQHENSS
LLLTKDRMNVEKAEFCNKSKQPGLARSQHNRWAG
SKETCNDRRTPSTEKKVDLNADPLCERKEWNKQ
KLPCSENPRDTEDVPWITLNSSIQKVNEWFSRS
DELLGSDDSHDGESESNAKVADVLDVLNEVDEYS
GSSEKIDLLASDPHEALICKSERVHSKSVESNI
EDKIFGKTYRKKASLPNLSHVTENLIIGAFVTE
PQIIQERPLTNKLKRKRRPTSGLHPEDFIKKADL
AVQKTPEMINQGTNQTEQNGQVMNITNSGHENK
TKGDSIQNEKNPNPIESLEKESAFKTKAEPISS
SISNMELELNIHNSKAPKKNRLRRKSSTRHIHAL
ELVVSRNLSPPNCTELQIDSCSSSEEIKKKKYN
QMPVRHSRNLQLMEGKEPATGAKKSNKPNEQTS
KRHDSDTFPELKLTNAPGSFTKCSNTSELKEFVN
PSLPREEKEEKLETVKVSNNAEDPKDLMLSGER
VLQTERSVESSSISLVPGTDYGTQESISLLEVS
TLGKAKTEPNKCVSQCAAFENPKGLIHGCSKDNR
NDTEGFKYPLGHEVNHSRETSIEMEESELDAQY
LQNTFKVSKRQSFAPFSNPGNAEEECATFSAHS
GSLKKQSPKVTFECEQKEENQGKNESNIKPVQTV
NITAGFPVVGQKDKPVDNAKCSIKGGSRFCLSS
QFRGNETGLITPNKHGLLQNPYRIPPLFPIKSF
VKTKCKKNLLEENFEEHSMSPEREMGNENIPSTV
STISRNNIRENVFKEASSSNINEVGSSTNEVGS
SINEIGSSDENIQAELGRNRGPKLNAMLRLGVL
QPEVYKQSLPGSNCKHPEIKKQEYEEVVQTVNTD
FSPYLISDNLEQPMGSSHASQVCSETPDDLLDD
GEIKEDTSFAENDIKESSAVFSKSVQKGELSRS
PSPFTHTHLAQGYRRGAKKLESSEENLSSEDEEL
PCFQHLLFGKVNNIPSQSTRHSTVATECLSKNT
EENLLSLKNSLNDCSNQVILAKASQEHHLSEET
KCSASLFSSQCSELEDLTANTNTQDPFLIGSSKQ
MRHQSESQGVGLSDKELVSDDEERGTGLEENNQ
EEQSMDSNLGEAASGCESETSVSEDCSGLSSQS
DILTTQQRDTMQHNLIKLQQEMAELEAVLEQHGS
QPSNSYPSIISDSSALEDLRNPEQSTSEKAVLT
SQKSSEYPISQNPEGLSADKFEVSADSSTSKNK
EPGVERSSPSKCPSLDDRWYMHSCSGSLQNRNYP
SQEELIKVVDVEEQQLEESGPHDLTETSYLPRQ
DLEGTPYLESGISLFSDDPESDPSEDRAPESAR
VGNIPSSTSALKVPQLKVAESAQSPAAAHTTDTA
GYNAMEESVSREKPELTASTERVNKRMSMVVSG
LTPEEFMLVYKFARKHHITLTNLITEETTHVVM
KT
DAEFVCERTLKYFLGIAGGKWVVSYFWVTQSI
KERKMLNEHDFEVRGDVVNGRNHQGPKRARESQ
DRKIFRGLEICCYGPFTNMPTDQLEWMVQLCGA
SVVKELSSFTLGTGVHPIVVVQPDAWTEDNGFHA
IGQMCEAPVVTREWVLDSVALYQCQELDTYLIP
QIPHSHY*LQPATGTEPQDPKNELTKWPFQALG
APLTLQSFYCPGY*IFYVHQPEKDFWLCKGPLKI
FCLKSPLEICHEHKIMVIFHLRRF*NHLNATN*
ARC*FIIYQPYSFYSGCCWLRAGSTEWLGLKRI
AGFPKFTSLKPCVHKGRESDPSMEGECLGSIM*L
KVRIVLGQFSNVGVEHWGGNSEAGIRNEKET*N
LGMVAHACNPSTLGGQGGQITGGQEFETSLANM
VKPHLY*KYRN*PVMVVDTCNPSYSGG*GRRITS
AREVEVAVSQDHTTALQPG*Q*DCGSKKKKKKG
K*N*KRFLKV*DIFARFLKNVF*NSRRFSRTGF
QRQSSNSSLVISKMFIVVALVYNPFLLKYKTSGM
NISYL*NDRSHQEGSCCFL*GDFFPLLPVAETI
QLHK*FCLLKEEKVFFINPLSRTVYSCWKD*VF
PSPPSVQGQ*RLDCTKYVL*MLCC*HCK*TW*QT
LP

Frame 2

TLISYSERLLLSGSPLVSVATEKRGNYR*IKTA
TARRELAETSWTGDRLWGFSDNWAPALRRPSPS
ALGKVHWNRKKWIYLLFALKKYKMSLMLCRKS*
SVPSVWS*SRNLSPQSVTTYFANFAC*NFSTRRK
GLHSVLYVRMI*PKGAYKKVRDLVNLLKSY*KS
FVLFSLTQVWSMQTAIILQKRKITLLNI*KMKF
LSSKVWATETVPKDFYRVNPKILPCRKPVSVSNS
LTLEL*EL*GQSSGYNLKRRLSTLNWDLILLKI
PLIRQLIAVWEIKNCYKSPLKEPGMKSVWILQK
RLLVNFLRRM*QILNIINPVIMI*TPLRSVQLRG
IQKSIRVVLFQTCMWSHVAQILMPAHYSMRTAV
YYSLKTE*M*KRLNSVIKANSLA*QGANITDGL
EVRKHVMIGGLPAQKKR*I*MLIPCVREKNGISR
NCHAQRILEILKMFLG*H*IAAFRKLMSGFPEV
MNC*VLMTHMMGSLNQMPK*LMYWTF*MR*MNI
LVLQRK*TYWPVILMRL*YVKVKEFTPNQ*RVIL
KTKYLGKPIGRRQASPT*AM*LKI*L*EHLLLS
HR*YKSVPSQIN*SVKGDLHQAFILRILSRKQI
WQFKRLLK**IRELTKRSRMVK**ILLIVVMRIK
QKVILFRMRKILTQ*NHSKKNLLSKRKLNL*AA
V*AIWNSN*ISTIQKHLKRIG*GGSLLPGIFMR
LN**SVEI*AHLIVLNCKLIVVLAVKR*RKKSTT
KCQSGTAETYNSWKVKNLQLEPRRVTSQMNRQV
KDMTAILSQS*S*QMHLVLLLSVQIPVNLKNLS
ILAFQEKKKKRN*KQLKCLIMLKTPKISC*VEKG
FCKLKDL*RVAVFHWYLVLIMALRKVSRYWKLA
L*GRQKQNQINV*VSVQHLKTPRD*FMVVPKII
EMTQKALSIHWDMKLTTVGKQA*KWKKVNLMLSI
CRIHSRFQSASHLLRFQIQEMQKRNVQHSLPTL
GP*RNKVQKSLLNVNKRKKIKERMSLISSLYRQ
LISLQAFLWLVRKISQLIMPNVVSKEALGFVYHL
SSEATKLDSLLQINMDFYKTHIVYHHFFPSSHL
LKLNVRKIC*RKTLRNIQCHLKEKWEMRTFQVQ
*AQLAVITLEKMFLKKPAQAILMK*VPVLMKWAP
VLMK*VPVMKTFKQN*VETEGQN*MLCLD*GFC
NLRSINKVFLEVIVSILK*KSKNMKK*FRLLIQ
ISLHI*FQIT*NSLWEVVMHLRFVLRHLMTC*MM
VK*RKILVLLKMTLRKVLLFLAKASRKESLAGV
LALSPIHIWLRVTEEGPRN*SPQKRTYLVRMKS
FPASNTCYLVK*TIYLLSLLGIAPLLPSVCLRTQ
RRIYYH*RIA*MTAVTR*YWQRHLRNITLVRKQ
NVLLACFLHSAVNWKT*LQIQTPRILS*LVLPN
K*GISLKARELV*VTRNWFQMMKKEERAWKKIIK
KSKAWIQT*VKQHLGVRVKQASLKTAQGYPLRV
TF*PLSRGIPCNIT**SSSRKWLN*KLC*NSMG
ASLLTATLPS*VTLLPLRTCEIQNKAHQKKQY*L
HRKVVNTL*ARIQKAFLLTSLRCLQIVLPVKIK
NQEWKGHPLLNAHH*MIGGTCTVALGVFRIETT
HLKRSSLRLLMWRSNSWKSLGHTI*RKHLTCQGK
I*REPLTWNLESASSLMTLNLILLKTEPQSQLV
LATYHLQPLH*KFPN*KLQNLPRVQLLLILLIL
LGIMQWKKV*AGRSQN*QLQQKGSTKECPWWCLA
*PQKNLCSCTSLPENTTSL*LI*LLKRLLMLL*
KQ
MLSLCVNGH*NIF*ELREENG*LAISG*PSL
LKKEKC*MSMILKSEEMWSMEETTKVQSEQENPR
TERSSGG*KSVAMGPSPTCPQINWNGWYSCVVL
LW*RSFHHSPLAQVSTQLWLCSQMPGQRTMASM
QLGRCVRHLW*PESGCWTV*HSTSARSWTPT*YP
RSPTATTDCSQPQVQSHRTPRMSLQSGLSRPWE
LLSLFSPSTVLATKYFMYISLKRTSGYARVP*R
FSA*SLPWKSAMSTKLW*FFT*EDFKTI*TPPIE
QDADSLFISPILSIQAVVGLGLEAQSGLASRE*
LVSLSLLL*NPVFTKAESQTLQWKESAWDRLCD
LKSE*SLGSSQMLEWNIGEEILRQVLEMKRKLET
WAWWLTPVIPALWEAKVGRSLEVRSSKPAWPTW
*NPISTKNTEISRSWWWTPVIPATQVAKAGESL
QPGRWRLQ*AKIIPRHSSLGDSETVAQKKKKKKE
NETRRDF*KSEIYLLDF*RMCSKTAEDFQEPVS
KDSLLIPH***VKCLLL*LWYIIHSS*NIRPLA
*IFHIYKMTDPTRKEAVAFFEVIFFLCSLLLKPY
SFINNFAC*RKKKCFS*THYPGLFIAVGRTRSS
LAPPVCKGSEDLIVQNTFCKCCAVNTANKLGSK
HF

Sequence BRCA1.bAug05

GTACCTTGATTTCGTATTCTGAGAGGCTGCTGCTTAGCGGTAGCCCCTTGGTTTCCGTGGCAACGGAAAAGCGCGGGAATTACAGATAAATTAAAACTGC
GACTGCGCGGCGTGAGCTCGCTGAGACTTCCTGGACGGGGGACAGGCTGTGGGGTTTCTCAGATAACTGGGCCCCTGCGCTCAGGAGGCCTTCACCCTCT
GCTCTGGTTCATTGGAACAGAAAGAAATGGATTTATCTGCTCTTCGCGTTGAAGAAGTACAAAATGTCATTAATGCTATGCAGAAAATCTTAGAGTGTCC
CATCTGTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAATTTTGCATGCTGAAACTTCTCAACCAGAAGAAAGGGCCT
TCACAGTGTCCTTTATGTAAGAATGATATAACCAAAAGGAGCCTACAAGAAAGTACGAGATTTAGTCAACTTGTTGAAGAGCTATTGAAAATCATTTGTG
CTTTTCAGCTTGACACAGGTTTGGAGTATGCAAACAGCTATAATTTTGCAAAAAAGGAAAATAACTCTCCTGAACATCTAAAAGATGAAGTTTCTATCAT
CCAAAGTATGGGCTACAGAAACCGTGCCAAAAGACTTCTACAGAGTGAACCCGAAAATCCTTCCTTGCAGGAAACCAGTCTCAGTGTCCAACTCTCTAAC
CTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAGACGTCTGTCTACATTGAATTGGGATCTGATTCTTCTGAAGATACCGTTA
ATAAGGCAACTTATTGCAGTGTGGGAGATCAAGAATTGTTACAAATCACCCCTCAAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAGGCTGC
TTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCA
GAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTAC
TCACTAAAGACAGAATGAATGTAGAAAAGGCTGAATTCTGTAATAAAAGCAAACAGCCTGGCTTAGCAAGGAGCCAACATAACAGATGGGCTGGAAGTAA
GGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAAGGTAGATCTGAATGCTGATCCCCTGTGTGAGAGAAAAGAATGGAATAAGCAGAAACTG
CCATGCTCAGAGAATCCTAGAGATACTGAAGATGTTCCTTGGATAACACTAAATAGCAGCATTCAGAAAGTTAATGAGTGGTTTTCCAGAAGTGATGAAC
TGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGCCAAAGTAGCTGATGTATTGGACGTTCTAAATGAGGTAGATGAATATTCTGGTTC
TTCAGAGAAAATAGACTTACTGGCCAGTGATCCTCATGAGGCTTTAATATGTAAAAGTGAAAGAGTTCACTCCAAATCAGTAGAGAGTAATATTGAAGAC
AAAATATTTGGGAAAACCTATCGGAAGAAGGCAAGCCTCCCCAACTTAAGCCATGTAACTGAAAATCTAATTATAGGAGCATTTGTTACTGAGCCACAGA
TAATACAAGAGCGTCCCCTCACAAATAAATTAAAGCGTAAAAGGAGACCTACATCAGGCCTTCATCCTGAGGATTTTATCAAGAAAGCAGATTTGGCAGT
TCAAAAGACTCCTGAAATGATAAATCAGGGAACTAACCAAACGGAGCAGAATGGTCAAGTGATGAATATTACTAATAGTGGTCATGAGAATAAAACAAAA
GGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAA
GCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTCATGCGCTTGAACT
AGTAGTCAGTAGAAATCTAAGCCCACCTAATTGTACTGAATTGCAAATTGATAGTTGTTCTAGCAGTGAAGAGATAAAGAAAAAAAAGTACAACCAAATG
CCAGTCAGGCACAGCAGAAACCTACAACTCATGGAAGGTAAAGAACCTGCAACTGGAGCCAAGAAGAGTAACAAGCCAAATGAACAGACAAGTAAAAGAC
ATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCTAG
CCTTCCAAGAGAAGAAAAAGAAGAGAAACTAGAAACAGTTAAAGTGTCTAATAATGCTGAAGACCCCAAAGATCTCATGTTAAGTGGAGAAAGGGTTTTG
CAAACTGAAAGATCTGTAGAGAGTAGCAGTATTTCATTGGTACCTGGTACTGATTATGGCACTCAGGAAAGTATCTCGTTACTGGAAGTTAGCACTCTAG
GGAAGGCAAAAACAGAACCAAATAAATGTGTGAGTCAGTGTGCAGCATTTGAAAACCCCAAGGGACTAATTCATGGTTGTTCCAAAGATAATAGAAATGA
CACAGAAGGCTTTAAGTATCCATTGGGACATGAAGTTAACCACAGTCGGGAAACAAGCATAGAAATGGAAGAAAGTGAACTTGATGCTCAGTATTTGCAG
AATACATTCAAGGTTTCAAAGCGCCAGTCATTTGCTCCGTTTTCAAATCCAGGAAATGCAGAAGAGGAATGTGCAACATTCTCTGCCCACTCTGGGTCCT
TAAAGAAACAAAGTCCAAAAGTCACTTTTGAATGTGAACAAAAGGAAGAAAATCAAGGAAAGAATGAGTCTAATATCAAGCCTGTACAGACAGTTAATAT
CACTGCAGGCTTTCCTGTGGTTGGTCAGAAAGATAAGCCAGTTGATAATGCCAAATGTAGTATCAAAGGAGGCTCTAGGTTTTGTCTATCATCTCAGTTC
AGAGGCAACGAAACTGGACTCATTACTCCAAATAAACATGGACTTTTACAAAACCCATATCGTATACCACCACTTTTTCCCATCAAGTCATTTGTTAAAA
CTAAATGTAAGAAAAATCTGCTAGAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAACATTCCAAGTACAGTGAGCAC
AATTAGCCGTAATAACATTAGAGAAAATGTTTTTAAAGAAGCCAGCTCAAGCAATATTAATGAAGTAGGTTCCAGTACTAATGAAGTGGGCTCCAGTATT
AATGAAATAGGTTCCAGTGATGAAAACATTCAAGCAGAACTAGGTAGAAACAGAGGGCCAAAATTGAATGCTATGCTTAGATTAGGGGTTTTGCAACCTG
AGGTCTATAAACAAAGTCTTCCTGGAAGTAATTGTAAGCATCCTGAAATAAAAAAGCAAGAATATGAAGAAGTAGTTCAGACTGTTAATACAGATTTCTC
TCCATATCTGATTTCAGATAACTTAGAACAGCCTATGGGAAGTAGTCATGCATCTCAGGTTTGTTCTGAGACACCTGATGACCTGTTAGATGATGGTGAA
ATAAAGGAAGATACTAGTTTTGCTGAAAATGACATTAAGGAAAGTTCTGCTGTTTTTAGCAAAAGCGTCCAGAAAGGAGAGCTTAGCAGGAGTCCTAGCC
CTTTCACCCATACACATTTGGCTCAGGGTTACCGAAGAGGGGCCAAGAAATTAGAGTCCTCAGAAGAGAACTTATCTAGTGAGGATGAAGAGCTTCCCTG
CTTCCAACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCGAGTGTCTGTCTAAGAACACAGAGGAG
AATTTATTATCATTGAAGAATAGCTTAAATGACTGCAGTAACCAGGTAATATTGGCAAAGGCATCTCAGGAACATCACCTTAGTGAGGAAACAAAATGTT
CTGCTAGCTTGTTTTCTTCACAGTGCAGTGAATTGGAAGACTTGACTGCAAATACAAACACCCAGGATCCTTTCTTGATTGGTTCTTCCAAACAAATGAG
GCATCAGTCTGAAAGCCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAG
CAAAGCATGGATTCAAACTTAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTT
TAACCACTCAGCAGAGGGATACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAGCCAGCC
TTCTAACAGCTACCCTTCCATCATAAGTGACTCTTCTGCCCTTGAGGACCTGCGAAATCCAGAACAAAGCACATCAGAAAAAGCAGTATTAACTTCACAG
AAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAAGTTTGAGGTGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAG
GAGTGGAAAGGTCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCA
AGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTA
GAGGGAACCCCTTACCTGGAATCTGGAATCAGCCTCTTCTCTGATGACCCTGAATCTGATCCTTCTGAAGACAGAGCCCCAGAGTCAGCTCGTGTTGGCA
ACATACCATCTTCAACCTCTGCATTGAAAGTTCCCCAATTGAAAGTTGCAGAATCTGCCCAGAGTCCAGCTGCTGCTCATACTACTGATACTGCTGGGTA
TAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACAAAAGAATGTCCATGGTGGTGTCTGGCCTGACC
CCAGAAGAATTTATGCTCGTGTACAAGTTTGCCAGAAAACACCACATCACTTTAACTAATCTAATTACTGAAGAGACTACTCATGTTGTTATGAAAACAG

ATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTGGGTGACCCAGTCTATTAAAGA
AAGAAAAATGCTGAATGAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGA
AAGATCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGG
TGAAGGAGCTTTCATCATTCACCCTTGGCACAGGTGTCCACCCAATTGTGGTTGTGCAGCCAGATGCCTGGACAGAGGACAATGGCTTCCATGCAATTGG
GCAGATGTGTGAGGCACCTGTGGTGACCCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATACCCCAGATC
CCCCACAGCCACTACTGACTGCAGCCAGCCACAGGTACAGAGCCACAGGACCCCAAGAATGAGCTTACAAAGTGGCCTTTCCAGGCCCTGGGAGCTCCTC
TCACTCTTCAGTCCTTCTACTGTCCTGGCTACTAAATATTTTATGTACATCAGCCTGAAAAGGACTTCTGGCTATGCAAGGGTCCCTTAAAGATTTTCTG
CTTGAAGTCTCCCTTGGAAATCTGCCATGAGCACAAAATTATGGTAATTTTTCACCTGAGAAGATTTTAAAACCATTTAAACGCCACCAATTGAGCAAGA
TGCTGATTCATTATTTATCAGCCCTATTCTTTCTATTCAGGCTGTTGTTGGCTTAGGGCTGGAAGCACAGAGTGGCTTGGCCTCAAGAGAATAGCTGGTT
TCCCTAAGTTTACTTCTCTAAAACCCTGTGTTCACAAAGGCAGAGAGTCAGACCCTTCAATGGAAGGAGAGTGCTTGGGATCGATTATGTGACTTAAAGT
CAGAATAGTCCTTGGGCAGTTCTCAAATGTTGGAGTGGAACATTGGGGAGGAAATTCTGAGGCAGGTATTAGAAATGAAAAGGAAACTTGAAACCTGGGC
ATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTGGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAAC
CCCATCTCTACTAAAAATACAGAAATTAGCCGGTCATGGTGGTGGACACCTGTAATCCCAGCTACTCAGGTGGCTAAGGCAGGAGAATCACTTCAGCCCG
GGAGGTGGAGGTTGCAGTGAGCCAAGATCATACCACGGCACTCCAGCCTGGGTGACAGTGAGACTGTGGCTCAAAAAAAAAAAAAAAAAAAGGAAAATGA
AACTAGAAGAGATTTCTAAAAGTCTGAGATATATTTGCTAGATTTCTAAAGAATGTGTTCTAAAACAGCAGAAGATTTTCAAGAACCGGTTTCCAAAGAC
AGTCTTCTAATTCCTCATTAGTAATAAGTAAAATGTTTATTGTTGTAGCTCTGGTATATAATCCATTCCTCTTAAAATATAAGACCTCTGGCATGAATAT
TTCATATCTATAAAATGACAGATCCCACCAGGAAGGAAGCTGTTGCTTTCTTTGAGGTGATTTTTTTCCTTTGCTCCCTGTTGCTGAAACCATACAGCTT
CATAAATAATTTTGCTTGCTGAAGGAAGAAAAAGTGTTTTTCATAAACCCATTATCCAGGACTGTTTATAGCTGTTGGAAGGACTAGGTCTTCCCTAGCC
CCCCCAGTGTGCAAGGGCAGTGAAGACTTGATTGTACAAAATACGTTTTGTAAATGTTGTGCTGTTAACACTGCAAATAAACTTGGTAGCAAACACTTCC
A
  • BRCA1-F1 (forward primer)
  • BRCA1-10 (reverse primer)
  • Multiple exon skipping

Frame 0

VP*FRILRGCCLAVAPWFPWQRKSAGITDKLKL
RLRGVSSLRLPGRGTGCGVSQITGPLRSGGLHPL
LWFIGTERNGFICSSR*RSTKCH*CYAENLRVS
HLSGVDQGTCLHKV*PHILQILHAETSQPEERA
FTVSFM*E*YNQKEPTRKYEI*STC*RAIENHLC
FSA*HRFGVCKQL*FCKKGK*LS*TSKR*SFYH
PKYGLQKPCQKTSTE*TRKSFLAGNQSQCPTL*
PWNCENSEDKAADTTSKDVCLH*IGI*FF*RYR*
*GNLLQCGRSRIVTNHPSRNQG*NQFGFCKKGC
L*IF*DGCNKY*TSSTQ***FEHH*EACS*EAS
RKVSG*FCFKLACGAMWHKYSCQLITA*EQQFIT
H*RQNECRKG*IL**KQTAWLSKEPT*QMGWK*
GNM***ADSQHRKKGRSEC*SPV*EKRME*AET
AMLRES*RY*RCSLDNTK*QHSES**VVFQK**T
VRF**LT*WGV*IKCQSS*CIGRSK*GR*IFWF
FRENRLTGQ*SS*GFNM*K*KSSLQISRE*Y*R
QNIWENLSEEGKPPQLKPCN*KSNYRSICY*ATD
NTRASPHK*IKA*KETYIRPSS*GFYQESRFGS
SKDS*NDKSGN*PNGAEWSSDEYY**WS*E*NK
R*FYSE*EKS*PNRITRKRICFQNES*TYKQQYK
QYGTRIKYPQFKST*KE*AEEEVFYQAYSCA*T
SSQ*KSKPT*LY*IAN**LF*Q*RDKEKKVQPN
ASQAQQKPTTHGR*RTCNWSQEE*QAK*TDK*KT
*QRYFPRAEVNKCTWFFY*VFKYQ*T*RICQS*
PSKRRKRRETRNS*SV**C*RPQRSHVKWRKGF
AN*KICRE*QYFIGTWY*LWHSGKYLVTGS*HSR
EGKNRTK*MCESVCSI*KPQGTNSWLFQR**K*
HRRL*VSIGT*S*PQSGNKHRNGRK*T*CSVFA
EYIQGFKAPVICSVFKSRKCRRGMCNILCPLWVL
KETKSKSHF*M*TKGRKSRKE*V*YQACTDS*Y
HCRLSCGWSER*AS**CQM*YQRRL*VLSIISV
QRQRNWTHYSK*TWTFTKPISYTTTFSHQVIC*N
*M*EKSARGKL*GTFNVT*KRNGK*EHSKYSEH
N*P**H*RKCF*RSQLKQY**SRFQY**SGLQY
**NRFQ**KHSSRTR*KQRAKIECYA*IRGFAT*
GL*TKSSWK*L*AS*NKKARI*RSSSDC*YRFL
SISDFR*LRTAYGK*SCISGLF*DT**PVR*W*
NKGRY*FC*K*H*GKFCCF*QKRPERRA*QES*P
FHPYTFGSGLPKRGQEIRVLRRELI**G*RASL
LPTLVIW*SKQYTFSVY*A*HRCYRVSV*EHRG
EFIIIEE*LK*LQ*PGNIGKGISGTSP**GNKMF
C*LVFFTVQ*IGRLDCKYKHPGSFLDWFFQTNE
ASV*KPGSWSE*QGIGFR**RKRNGLGRK*SRR
AKHGFKLR*SSIWV*E*NKRL*RLLRAILSE*HF
NHSAEGYHAT*PDKAPAGNG*TRSCVRTAWEPA
F*QLPFHHK*LFCP*GPAKSRTKHIRKSSINFT
EK**IPYKPESRRPFC*QV*GVCR*FYQ*K*RTR
SGKVIPF*MPIIR**VVHAQLLWESSE*KLPIS
RGAH*GC*CGGATAGRVWATRFDGNILLAKARS
RGNPLPGIWNQPLL**P*I*SF*RQSPRVSSCWQ
HTIFNLCIESSPIESCRICPESSCCSYY*YCWV
*CNGRKCEQGEARIDSFNRKGQQKNVHGGVWPD
PRRIYARVQVCQKTPHHFN*SNY*RDYSCCYENR

C*VCV*TDTEIFSRNCGRKMGS*LFLGDPVY*R
KKNAE*A*F*SQRRCGQWKKPPRSKASKRIPGQ
KDLQGARNLLLWALHQHAHRSTGMDGTAVWCFCG
EGAFIIHPWHRCPPNCGCAARCLDRGQWLPCNW
ADV*GTCGDPRVGVGQCSTLPVPGAGHLPDTPD
PPQPLLTAASHRYRATGPQE*AYKVAFPGPGSSS
HSSVLLLSWLLNILCTSA*KGLLAMQGSLKDFL
LEVSLGNLP*AQNYGNFSPEKILKPFKRHQLSK
MLIHYLSALFFLFRLLLA*GWKHRVAWPQENSWF
P*VYFSKTLCSQRQRVRPFNGRRVLGIDYVT*S
QNSPWAVLKCWSGTLGRKF*GRY*K*KGNLKPG
HGGSRL*SQHFGRPRWADHWRSGVRNQPGQHGET
PSLLKIQKLAGHGGGHL*SQLLRWLRQENHFSP
GGGGCSEPRSYHGTPAWVTVRLWLKKKKKKRKM
KLEEISKSLRYIC*ISKECVLKQQKIFKNRFPKT
VF*FLISNK*NVYCCSSGI*SIPLKI*DLWHEY
FISIK*QIPPGRKLLLSLR*FFSFAPCC*NHTA
S*IILLAEGRKSVFHKPIIQDCL*LLEGLGLP*P
PQCARAVKT*LYKIRFVNVVLLTLQINLVANTS

Frame 1

YLDFVF*EAAA*R*PLGFRGNGKARELQIN*NC
DCAA*AR*DFLDGGQAVGFLR*LGPCAQEAFTL
CSGSLEQKEMDLSALRVEEVQNVINAMQKILECP
ICLELIKEPVSTKCDHIFCKFCMLKLLNQKKGP
SQCPLCKNDITKRSLQESTRFSQLVEELLKIIC
AFQLDTGLEYANSYNFAKKENNSPEHLKDEVSII
QSMGYRNRAKRLLQSEPENPSLQETSLSVQLSN
LGTVRTLRTKQRIQPQKTSVYIELGSDSSEDTV
NKATYCSVGDQELLQITPQGTRDEISLDSAKKAA
CEFSETDVTNTEHHQPSNNDLNTTEKRAAERHP
EKYQGSSVSNLHVEPCGTNTHASSLQHENSSLL
LTKDRMNVEKAEFCNKSKQPGLARSQHNRWAGSK
ETCNDRRTPSTEKKVDLNADPLCERKEWNKQKL
PCSENPRDTEDVPWITLNSSIQKVNEWFSRSDE
LLGSDDSHDGESESNAKVADVLDVLNEVDEYSGS
SEKIDLLASDPHEALICKSERVHSKSVESNIED
KIFGKTYRKKASLPNLSHVTENLIIGAFVTEPQ
IIQERPLTNKLKRKRRPTSGLHPEDFIKKADLAV
QKTPEMINQGTNQTEQNGQVMNITNSGHENKTK
GDSIQNEKNPNPIESLEKESAFKTKAEPISSSI
SNMELELNIHNSKAPKKNRLRRKSSTRHIHALEL
VVSRNLSPPNCTELQIDSCSSSEEIKKKKYNQM
PVRHSRNLQLMEGKEPATGAKKSNKPNEQTSKR
HDSDTFPELKLTNAPGSFTKCSNTSELKEFVNPS
LPREEKEEKLETVKVSNNAEDPKDLMLSGERVL
QTERSVESSSISLVPGTDYGTQESISLLEVSTL
GKAKTEPNKCVSQCAAFENPKGLIHGCSKDNRND
TEGFKYPLGHEVNHSRETSIEMEESELDAQYLQ
NTFKVSKRQSFAPFSNPGNAEEECATFSAHSGS
LKKQSPKVTFECEQKEENQGKNESNIKPVQTVNI
TAGFPVVGQKDKPVDNAKCSIKGGSRFCLSSQF
RGNETGLITPNKHGLLQNPYRIPPLFPIKSFVK
TKCKKNLLEENFEEHSMSPEREMGNENIPSTVST
ISRNNIRENVFKEASSSNINEVGSSTNEVGSSI
NEIGSSDENIQAELGRNRGPKLNAMLRLGVLQP
EVYKQSLPGSNCKHPEIKKQEYEEVVQTVNTDFS
PYLISDNLEQPMGSSHASQVCSETPDDLLDDGE
IKEDTSFAENDIKESSAVFSKSVQKGELSRSPS
PFTHTHLAQGYRRGAKKLESSEENLSSEDEELPC
FQHLLFGKVNNIPSQSTRHSTVATECLSKNTEE
NLLSLKNSLNDCSNQVILAKASQEHHLSEETKC
SASLFSSQCSELEDLTANTNTQDPFLIGSSKQMR
HQSESQGVGLSDKELVSDDEERGTGLEENNQEE
QSMDSNLGEAASGCESETSVSEDCSGLSSQSDI
LTTQQRDTMQHNLIKLQQEMAELEAVLEQHGSQP
SNSYPSIISDSSALEDLRNPEQSTSEKAVLTSQ
KSSEYPISQNPEGLSADKFEVSADSSTSKNKEP
GVERSSPSKCPSLDDRWYMHSCSGSLQNRNYPSQ
EELIKVVDVEEQQLEESGPHDLTETSYLPRQDL
EGTPYLESGISLFSDDPESDPSEDRAPESARVG
NIPSSTSALKVPQLKVAESAQSPAAAHTTDTAGY
NAMEESVSREKPELTASTERVNKRMSMVVSGLT
PEEFMLVYKFARKHHITLTNLITEETTHVVMKT

DAEFVCERTLKYFLGIAGGKWVVSYFWVTQSIKE
RKMLNEHDFEVRGDVVNGRNHQGPKRARESQDR
KIFRGLEICCYGPFTNMPTDQLEWMVQLCGASV
VKELSSFTLGTGVHPIVVVQPDAWTEDNGFHAIG
QMCEAPVVTREWVLDSVALYQCQELDTYLIPQI
PHSHY*LQPATGTEPQDPKNELTKWPFQALGAP
LTLQSFYCPGY*IFYVHQPEKDFWLCKGPLKIFC
LKSPLEICHEHKIMVIFHLRRF*NHLNATN*AR
C*FIIYQPYSFYSGCCWLRAGSTEWLGLKRIAG
FPKFTSLKPCVHKGRESDPSMEGECLGSIM*LKV
RIVLGQFSNVGVEHWGGNSEAGIRNEKET*NLG
MVAHACNPSTLGGQGGQITGGQEFETSLANMVK
PHLY*KYRN*PVMVVDTCNPSYSGG*GRRITSAR
EVEVAVSQDHTTALQPG*Q*DCGSKKKKKKGK*
N*KRFLKV*DIFARFLKNVF*NSRRFSRTGFQR
QSSNSSLVISKMFIVVALVYNPFLLKYKTSGMNI
SYL*NDRSHQEGSCCFL*GDFFPLLPVAETIQL
HK*FCLLKEEKVFFINPLSRTVYSCWKD*VFPS
PPSVQGQ*RLDCTKYVL*MLCC*HCK*TW*QTLP

Frame 2

TLISYSERLLLSGSPLVSVATEKRGNYR*IKTA
TARRELAETSWTGDRLWGFSDNWAPALRRPSPS
ALVHWNRKKWIYLLFALKKYKMSLMLCRKS*SV
PSVWS*SRNLSPQSVTTYFANFAC*NFSTRRKGL
HSVLYVRMI*PKGAYKKVRDLVNLLKSY*KSFV
LFSLTQVWSMQTAIILQKRKITLLNI*KMKFLS
SKVWATETVPKDFYRVNPKILPCRKPVSVSNSLT
LEL*EL*GQSSGYNLKRRLSTLNWDLILLKIPL
IRQLIAVWEIKNCYKSPLKEPGMKSVWILQKRL
LVNFLRRM*QILNIINPVIMI*TPLRSVQLRGIQ
KSIRVVLFQTCMWSHVAQILMPAHYSMRTAVYY
SLKTE*M*KRLNSVIKANSLA*QGANITDGLEV
RKHVMIGGLPAQKKR*I*MLIPCVREKNGISRNC
HAQRILEILKMFLG*H*IAAFRKLMSGFPEVMN
C*VLMTHMMGSLNQMPK*LMYWTF*MR*MNILV
LQRK*TYWPVILMRL*YVKVKEFTPNQ*RVILKT
KYLGKPIGRRQASPT*AM*LKI*L*EHLLLSHR
*YKSVPSQIN*SVKGDLHQAFILRILSRKQIWQ
FKRLLK**IRELTKRSRMVK**ILLIVVMRIKQK
VILFRMRKILTQ*NHSKKNLLSKRKLNL*AAV*
AIWNSN*ISTIQKHLKRIG*GGSLLPGIFMRLN
**SVEI*AHLIVLNCKLIVVLAVKR*RKKSTTKC
QSGTAETYNSWKVKNLQLEPRRVTSQMNRQVKD
MTAILSQS*S*QMHLVLLLSVQIPVNLKNLSIL
AFQEKKKKRN*KQLKCLIMLKTPKISC*VEKGFC
KLKDL*RVAVFHWYLVLIMALRKVSRYWKLAL*
GRQKQNQINV*VSVQHLKTPRD*FMVVPKIIEM
TQKALSIHWDMKLTTVGKQA*KWKKVNLMLSICR
IHSRFQSASHLLRFQIQEMQKRNVQHSLPTLGP
*RNKVQKSLLNVNKRKKIKERMSLISSLYRQLI
SLQAFLWLVRKISQLIMPNVVSKEALGFVYHLSS
EATKLDSLLQINMDFYKTHIVYHHFFPSSHLLK
LNVRKIC*RKTLRNIQCHLKEKWEMRTFQVQ*A
QLAVITLEKMFLKKPAQAILMK*VPVLMKWAPVL
MK*VPVMKTFKQN*VETEGQN*MLCLD*GFCNL
RSINKVFLEVIVSILK*KSKNMKK*FRLLIQIS
LHI*FQIT*NSLWEVVMHLRFVLRHLMTC*MMVK
*RKILVLLKMTLRKVLLFLAKASRKESLAGVLA
LSPIHIWLRVTEEGPRN*SPQKRTYLVRMKSFP
ASNTCYLVK*TIYLLSLLGIAPLLPSVCLRTQRR
IYYH*RIA*MTAVTR*YWQRHLRNITLVRKQNV
LLACFLHSAVNWKT*LQIQTPRILS*LVLPNK*
GISLKARELV*VTRNWFQMMKKEERAWKKIIKKS
KAWIQT*VKQHLGVRVKQASLKTAQGYPLRVTF
*PLSRGIPCNIT**SSSRKWLN*KLC*NSMGAS
LLTATLPS*VTLLPLRTCEIQNKAHQKKQY*LHR
KVVNTL*ARIQKAFLLTSLRCLQIVLPVKIKNQ
EWKGHPLLNAHH*MIGGTCTVALGVFRIETTHL
KRSSLRLLMWRSNSWKSLGHTI*RKHLTCQGKI*
REPLTWNLESASSLMTLNLILLKTEPQSQLVLA
TYHLQPLH*KFPN*KLQNLPRVQLLLILLILLG
IMQWKKV*AGRSQN*QLQQKGSTKECPWWCLA*P
QKNLCSCTSLPENTTSL*LI*LLKRLLMLL*KQ

MLSLCVNGH*NIF*ELREENG*LAISG*PSLLK
KEKC*MSMILKSEEMWSMEETTKVQSEQENPRTE
RSSGG*KSVAMGPSPTCPQINWNGWYSCVVLLW
*RSFHHSPLAQVSTQLWLCSQMPGQRTMASMQL
GRCVRHLW*PESGCWTV*HSTSARSWTPT*YPRS
PTATTDCSQPQVQSHRTPRMSLQSGLSRPWELL
SLFSPSTVLATKYFMYISLKRTSGYARVP*RFS
A*SLPWKSAMSTKLW*FFT*EDFKTI*TPPIEQD
ADSLFISPILSIQAVVGLGLEAQSGLASRE*LV
SLSLLL*NPVFTKAESQTLQWKESAWDRLCDLK
SE*SLGSSQMLEWNIGEEILRQVLEMKRKLETWA
WWLTPVIPALWEAKVGRSLEVRSSKPAWPTW*N
PISTKNTEISRSWWWTPVIPATQVAKAGESLQP
GRWRLQ*AKIIPRHSSLGDSETVAQKKKKKKENE
TRRDF*KSEIYLLDF*RMCSKTAEDFQEPVSKD
SLLIPH***VKCLLL*LWYIIHSS*NIRPLA*I
FHIYKMTDPTRKEAVAFFEVIFFLCSLLLKPYSF
INNFAC*RKKKCFS*THYPGLFIAVGRTRSSLA
PPVCKGSEDLIVQNTFCKCCAVNTANKLGSKHF

Sequence BRCA1.aAug05

GAGACTTCCTGGACGGGGGACAGGCTGTGGGGTTTCTCAGATAACTGGGCCCCTGCGCTCAGGAGGCCTTCACCCTCTGCTCTGGGTAAAGGTAGTAGAG
TCCCGGGAAAGGGACAGGGGGCCCAAGTGATGCTCTGGGGTACTGGCGTGGGAGAGTGGATTTCCGAAGCTGACAGATGGGTATTCTTTGACGGGGGGTA
GGGGCGGAACCTGAGAGGCGTAAGGCGTTGTGAACCCTGGGGAGGGGGGCAGTTTGTAGGTCGCGAGGGAAGCGCTGAGGATCAGGAAGGGGGCACTGAG
TGTCCGTGGGGGAATCCTCGTGATAGGAACTGGAATATGCCTTGAGGGGGACACTATGTCTTTAAAAACGTCGGCTGGTCATGAGGTCAGGAGTTCCAGA
CCAGCCTGACCAACGTGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGCCGCTCCAGCTACTCAGGAGGCTGAGGCAGGAGAA
TCGCTAGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAACAAAACAAAAC
AAAACAAAACAAAAAACACCGGCTGTTCATTGGAACAGAAAGAAATGGATTTATCTGCTCTTCGCGTTGAAGAAGTACAAAATGTCATTAATGCTATGCA
GAAAATCTTAGAGTGTCCCATCTGTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAAATTTTGCATGCTGAAACTTCTC
AACCAGAAGAAAGGGCCTTCACAGTGTCCTTTATGTAAGAATGATATAACCAAAAGGAGCCTACAAGAAAGTACGAGATTTAGTCAACTTGTTGAAGAGC
TATTGAAAATCATTTGTGCTTTTCAGCTTGACACAGGTTTGGAGTATGCAAACAGCTATAATTTTGCAAAAAAGGAAAATAACTCTCCTGAACATCTAAA
AGATGAAGTTTCTATCATCCAAAGTATGGGCTACAGAAACCGTGCCAAAAGACTTCTACAGAGTGAACCCGAAAATCCTTCCTTGCAGGAAACCAGTCTC
AGTGTCCAACTCTCTAACCTTGGAACTGTGAGAACTCTGAGGACAAAGCAGCGGATACAACCTCAAAAGACGTCTGTCTACATTGAATTGGGATCTGATT
CTTCTGAAGATACCGTTAATAAGGCAACTTATTGCAGTGTGGGAGATCAAGAATTGTTACAAATCACCCCTCAAGGAACCAGGGATGAAATCAGTTTGGA
TTCTGCAAAAAAGGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGT
GCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATG
AGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAAGGCTGAATTCTGTAATAAAAGCAAACAGCCTGGCTTAGCAAGGAGCCAACATAA
CAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAAAGGTAGATCTGAATGCTGATCCCCTGTGTGAGAGAAAAGAA
TGGAATAAGCAGAAACTGCCATGCTCAGAGAATCCTAGAGATACTGAAGATGTTCCTTGGATAACACTAAATAGCAGCATTCAGAAAGTTAATGAGTGGT
TTTCCAGAAGTGATGAACTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGCCAAAGTAGCTGATGTATTGGACGTTCTAAATGAGGT
AGATGAATATTCTGGTTCTTCAGAGAAAATAGACTTACTGGCCAGTGATCCTCATGAGGCTTTAATATGTAAAAGTGAAAGAGTTCACTCCAAATCAGTA
GAGAGTAATATTGAAGACAAAATATTTGGGAAAACCTATCGGAAGAAGGCAAGCCTCCCCAACTTAAGCCATGTAACTGAAAATCTAATTATAGGAGCAT
TTGTTACTGAGCCACAGATAATACAAGAGCGTCCCCTCACAAATAAATTAAAGCGTAAAAGGAGACCTACATCAGGCCTTCATCCTGAGGATTTTATCAA
GAAAGCAGATTTGGCAGTTCAAAAGACTCCTGAAATGATAAATCAGGGAACTAACCAAACGGAGCAGAATGGTCAAGTGATGAATATTACTAATAGTGGT
CATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAAC
CTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCA
TATTCATGCGCTTGAACTAGTAGTCAGTAGAAATCTAAGCCCACCTAATTGTACTGAATTGCAAATTGATAGTTGTTCTAGCAGTGAAGAGATAAAGAAA
AAAAAGTACAACCAAATGCCAGTCAGGCACAGCAGAAACCTACAACTCATGGAAGGTAAAGAACCTGCAACTGGAGCCAAGAAGAGTAACAAGCCAAATG
AACAGACAAGTAAAAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAA
AGAATTTGTCAATCCTAGCCTTCCAAGAGAAGAAAAAGAAGAGAAACTAGAAACAGTTAAAGTGTCTAATAATGCTGAAGACCCCAAAGATCTCATGTTA
AGTGGAGAAAGGGTTTTGCAAACTGAAAGATCTGTAGAGAGTAGCAGTATTTCATTGGTACCTGGTACTGATTATGGCACTCAGGAAAGTATCTCGTTAC
TGGAAGTTAGCACTCTAGGGAAGGCAAAAACAGAACCAAATAAATGTGTGAGTCAGTGTGCAGCATTTGAAAACCCCAAGGGACTAATTCATGGTTGTTC
CAAAGATAATAGAAATGACACAGAAGGCTTTAAGTATCCATTGGGACATGAAGTTAACCACAGTCGGGAAACAAGCATAGAAATGGAAGAAAGTGAACTT
GATGCTCAGTATTTGCAGAATACATTCAAGGTTTCAAAGCGCCAGTCATTTGCTCCGTTTTCAAATCCAGGAAATGCAGAAGAGGAATGTGCAACATTCT
CTGCCCACTCTGGGTCCTTAAAGAAACAAAGTCCAAAAGTCACTTTTGAATGTGAACAAAAGGAAGAAAATCAAGGAAAGAATGAGTCTAATATCAAGCC
TGTACAGACAGTTAATATCACTGCAGGCTTTCCTGTGGTTGGTCAGAAAGATAAGCCAGTTGATAATGCCAAATGTAGTATCAAAGGAGGCTCTAGGTTT
TGTCTATCATCTCAGTTCAGAGGCAACGAAACTGGACTCATTACTCCAAATAAACATGGACTTTTACAAAACCCATATCGTATACCACCACTTTTTCCCA
TCAAGTCATTTGTTAAAACTAAATGTAAGAAAAATCTGCTAGAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAACAT
TCCAAGTACAGTGAGCACAATTAGCCGTAATAACATTAGAGAAAATGTTTTTAAAGAAGCCAGCTCAAGCAATATTAATGAAGTAGGTTCCAGTACTAAT
GAAGTGGGCTCCAGTATTAATGAAATAGGTTCCAGTGATGAAAACATTCAAGCAGAACTAGGTAGAAACAGAGGGCCAAAATTGAATGCTATGCTTAGAT
TAGGGGTTTTGCAACCTGAGGTCTATAAACAAAGTCTTCCTGGAAGTAATTGTAAGCATCCTGAAATAAAAAAGCAAGAATATGAAGAAGTAGTTCAGAC
TGTTAATACAGATTTCTCTCCATATCTGATTTCAGATAACTTAGAACAGCCTATGGGAAGTAGTCATGCATCTCAGGTTTGTTCTGAGACACCTGATGAC
CTGTTAGATGATGGTGAAATAAAGGAAGATACTAGTTTTGCTGAAAATGACATTAAGGAAAGTTCTGCTGTTTTTAGCAAAAGCGTCCAGAAAGGAGAGC
TTAGCAGGAGTCCTAGCCCTTTCACCCATACACATTTGGCTCAGGGTTACCGAAGAGGGGCCAAGAAATTAGAGTCCTCAGAAGAGAACTTATCTAGTGA
GGATGAAGAGCTTCCCTGCTTCCAACACTTGTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCGAGTGTCTG
TCTAAGAACACAGAGGAGAATTTATTATCATTGAAGAATAGCTTAAATGACTGCAGTAACCAGGTAATATTGGCAAAGGCATCTCAGGAACATCACCTTA
GTGAGGAAACAAAATGTTCTGCTAGCTTGTTTTCTTCACAGTGCAGTGAATTGGAAGACTTGACTGCAAATACAAACACCCAGGATCCTTTCTTGATTGG
TTCTTCCAAACAAATGAGGCATCAGTCTGAAAGCCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAA
GAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTAT
CCTCTCAGAGTGACATTTTAACCACTCAGCAGAGGGATACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGA
ACAGCATGGGAGCCAGCCTTCTAACAGCTACCCTTCCATCATAAGTGACTCTTCTGCCCTTGAGGACCTGCGAAATCCAGAACAAAGCACATCAGAAAAA
GCAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAAGTTTGAGGTGTCTGCAGATAGTTCTACCA
GTAAAAATAAAGAACCAGGAGTGGAAAGGTCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAA
TAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTAC
TTGCCAAGGCAAGATCTAGAGGGAACCCCTTACCTGGAATCTGGAATCAGCCTCTTCTCTGATGACCCTGAATCTGATCCTTCTGAAGACAGAGCCCCAG
AGTCAGCTCGTGTTGGCAACATACCATCTTCAACCTCTGCATTGAAAGTTCCCCAATTGAAAGTTGCAGAATCTGCCCAGAGTCCAGCTGCTGCTCATAC
TACTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACAAAAGAATGTCCATG
GTGGTGTCTGGCCTGACCCCAGAAGAATTTATGCTCGTGTACAAGTTTGCCAGAAAACACCACATCACTTTAACTAATCTAATTACTGAAGAGACTACTC
ATGTTGTTATGAAAACAG
ATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTGGGT
GACCCAGTCTATTAAAGAAAGAAAAATGCTGAATGAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCA
AGAGAATCCCAGGACAGAAAGATCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGATCAACTGGAATGGATGGTACAGC
TGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGGTGTCCACCCAATTGTGGTTGTGCAGCCAGATGCCTGGACAGAGGACAA
TGGCTTCCATGCAATTGGGCAGATGTGTGAGGCACCTGTGGTGACCCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACC
TACCTGATACCCCAGATCCCCCACAGCCACTACTGACTGCAGCCAGCCACAGGTACAGAGCCACAGGACCCCAAGAATGAGCTTACAAAGTGGCCTTTCC
AGGCCCTGGGAGCTCCTCTCACTCTTCAGTCCTTCTACTGTCCTGGCTACTAAATATTTTATGTACATCAGCCTGAAAAGGACTTCTGGCTATGCAAGGG
TCCCTTAAAGATTTTCTGCTTGAAGTCTCCCTTGGAAATCTGCCATGAGCACAAAATTATGGTAATTTTTCACCTGAGAAGATTTTAAAACCATTTAAAC
GCCACCAATTGAGCAAGATGCTGATTCATTATTTATCAGCCCTATTCTTTCTATTCAGGCTGTTGTTGGCTTAGGGCTGGAAGCACAGAGTGGCTTGGCC
TCAAGAGAATAGCTGGTTTCCCTAAGTTTACTTCTCTAAAACCCTGTGTTCACAAAGGCAGAGAGTCAGACCCTTCAATGGAAGGAGAGTGCTTGGGATC
GATTATGTGACTTAAAGTCAGAATAGTCCTTGGGCAGTTCTCAAATGTTGGAGTGGAACATTGGGGAGGAAATTCTGAGGCAGGTATTAGAAATGAAAAG
GAAACTTGAAACCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTGGAGGTCAGGAGTTCGAAACCAGCC
TGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAGAAATTAGCCGGTCATGGTGGTGGACACCTGTAATCCCAGCTACTCAGGTGGCTAAGGCAG
GAGAATCACTTCAGCCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCATACCACGGCACTCCAGCCTGGGTGACAGTGAGACTGTGGCTCAAAAAAAAAA
AAAAAAAAAGGAAAATGAAACTAGAAGAGATTTCTAAAAGTCTGAGATATATTTGCTAGATTTCTAAAGAATGTGTTCTAAAACAGCAGAAGATTTTCAA
GAACCGGTTTCCAAAGACAGTCTTCTAATTCCTCATTAGTAATAAGTAAAATGTTTATTGTTGTAGCTCTGGTATATAATCCATTCCTCTTAAAATATAA
GACCTCTGGCATGAATATTTCATATCTATAAAATGACAGATCCCACCAGGAAGGAAGCTGTTGCTTTCTTTGAGGTGATTTTTTTCCTTTGCTCCCTGTT
GCTGAAACCATACAGCTTCATAAATAATTTTGCTTGCTGAAGGAAGAAAAAGTGTTTTTCATAAACCCATTATCCAGGACTGTTTATAGCTGTTGGAAGG
ACTAGGTCTTCCCTAGCCCCCCCAGTGTGCAAGGGCAGTGAAGACTTGATTGTACAAAATACGTTTTGTAAATGTTGTGCTGTTAACACTGCAAATAAAC
TTGGTAGCAAACACTTCCA
  • BRCA1-F1 (forward primer)
  • BRCA1-10 (reverse primer)
  • Multiple exon skipping

Frame 0

ETSWTGDRLWGFSDNWAPALRRPSPSALGKGSR
VPGKGQGAQVMLWGTGVGEWISEADRWVFFDGG*
GRNLRGVRRCEPWGGGQFVGREGSAEDQEGGTE
CPWGNPRDRNWNMP*GGHYVFKNVGWS*GQEFQ
TSLTNVVKLRLY*KYKN*PGVVPLQLLRRLRQEN
R*NPGGGGCSEPRSRHCTPAWATERDCLKTKQN
KTKQKTPAVHWNRKKWIYLLFALKKYKMSLMLC
RKS*SVPSVWS*SRNLSPQSVTTYFANFAC*NFS
TRRKGLHSVLYVRMI*PKGAYKKVRDLVNLLKS
Y*KSFVLFSLTQVWSMQTAIILQKRKITLLNI*
KMKFLSSKVWATETVPKDFYRVNPKILPCRKPVS
VSNSLTLEL*EL*GQSSGYNLKRRLSTLNWDLI
LLKIPLIRQLIAVWEIKNCYKSPLKEPGMKSVW
ILQKRLLVNFLRRM*QILNIINPVIMI*TPLRSV
QLRGIQKSIRVVLFQTCMWSHVAQILMPAHYSM
RTAVYYSLKTE*M*KRLNSVIKANSLA*QGANI
TDGLEVRKHVMIGGLPAQKKR*I*MLIPCVREKN
GISRNCHAQRILEILKMFLG*H*IAAFRKLMSG
FPEVMNC*VLMTHMMGSLNQMPK*LMYWTF*MR
*MNILVLQRK*TYWPVILMRL*YVKVKEFTPNQ*
RVILKTKYLGKPIGRRQASPT*AM*LKI*L*EH
LLLSHR*YKSVPSQIN*SVKGDLHQAFILRILS
RKQIWQFKRLLK**IRELTKRSRMVK**ILLIVV
MRIKQKVILFRMRKILTQ*NHSKKNLLSKRKLN
L*AAV*AIWNSN*ISTIQKHLKRIG*GGSLLPG
IFMRLN**SVEI*AHLIVLNCKLIVVLAVKR*RK
KSTTKCQSGTAETYNSWKVKNLQLEPRRVTSQM
NRQVKDMTAILSQS*S*QMHLVLLLSVQIPVNL
KNLSILAFQEKKKKRN*KQLKCLIMLKTPKISC*
VEKGFCKLKDL*RVAVFHWYLVLIMALRKVSRY
WKLAL*GRQKQNQINV*VSVQHLKTPRD*FMVV
PKIIEMTQKALSIHWDMKLTTVGKQA*KWKKVNL
MLSICRIHSRFQSASHLLRFQIQEMQKRNVQHS
LPTLGP*RNKVQKSLLNVNKRKKIKERMSLISS
LYRQLISLQAFLWLVRKISQLIMPNVVSKEALGF
VYHLSSEATKLDSLLQINMDFYKTHIVYHHFFP
SSHLLKLNVRKIC*RKTLRNIQCHLKEKWEMRT
FQVQ*AQLAVITLEKMFLKKPAQAILMK*VPVLM
KWAPVLMK*VPVMKTFKQN*VETEGQN*MLCLD
*GFCNLRSINKVFLEVIVSILK*KSKNMKK*FR
LLIQISLHI*FQIT*NSLWEVVMHLRFVLRHLMT
C*MMVK*RKILVLLKMTLRKVLLFLAKASRKES
LAGVLALSPIHIWLRVTEEGPRN*SPQKRTYLV
RMKSFPASNTCYLVK*TIYLLSLLGIAPLLPSVC
LRTQRRIYYH*RIA*MTAVTR*YWQRHLRNITL
VRKQNVLLACFLHSAVNWKT*LQIQTPRILS*L
VLPNK*GISLKARELV*VTRNWFQMMKKEERAWK
KIIKKSKAWIQT*VKQHLGVRVKQASLKTAQGY
PLRVTF*PLSRGIPCNIT**SSSRKWLN*KLC*
NSMGASLLTATLPS*VTLLPLRTCEIQNKAHQKK
QY*LHRKVVNTL*ARIQKAFLLTSLRCLQIVLP
VKIKNQEWKGHPLLNAHH*MIGGTCTVALGVFR
IETTHLKRSSLRLLMWRSNSWKSLGHTI*RKHLT
CQGKI*REPLTWNLESASSLMTLNLILLKTEPQ
SQLVLATYHLQPLH*KFPN*KLQNLPRVQLLLI
LLILLGIMQWKKV*AGRSQN*QLQQKGSTKECPW
WCLA*PQKNLCSCTSLPENTTSL*LI*LLKRLL
MLL*KQ
MLSLCVNGH*NIF*ELREENG*LAISG
*PSLLKKEKC*MSMILKSEEMWSMEETTKVQSEQ
ENPRTERSSGG*KSVAMGPSPTCPQINWNGWYS
CVVLLW*RSFHHSPLAQVSTQLWLCSQMPGQRT
MASMQLGRCVRHLW*PESGCWTV*HSTSARSWTP
T*YPRSPTATTDCSQPQVQSHRTPRMSLQSGLS
RPWELLSLFSPSTVLATKYFMYISLKRTSGYAR
VP*RFSA*SLPWKSAMSTKLW*FFT*EDFKTI*T
PPIEQDADSLFISPILSIQAVVGLGLEAQSGLA
SRE*LVSLSLLL*NPVFTKAESQTLQWKESAWD
RLCDLKSE*SLGSSQMLEWNIGEEILRQVLEMKR
KLETWAWWLTPVIPALWEAKVGRSLEVRSSKPA
WPTW*NPISTKNTEISRSWWWTPVIPATQVAKA
GESLQPGRWRLQ*AKIIPRHSSLGDSETVAQKKK
KKKENETRRDF*KSEIYLLDF*RMCSKTAEDFQ
EPVSKDSLLIPH***VKCLLL*LWYIIHSS*NI
RPLA*IFHIYKMTDPTRKEAVAFFEVIFFLCSLL
LKPYSFINNFAC*RKKKCFS*THYPGLFIAVGR
TRSSLAPPVCKGSEDLIVQNTFCKCCAVNTANK
LGSKHF

Frame 1

RLPGRGTGCGVSQITGPLRSGGLHPLLWVKVVE
SRERDRGPK*CSGVLAWESGFPKLTDGYSLTGG
RGGT*EA*GVVNPGEGGSL*VAREALRIRKGALS
VRGGILVIGTGICLEGDTMSLKTSAGHEVRSSR
PA*PTW*NSVSTKNTKISRAWCRSSYSGG*GRR
IARTREAEVAVSRDRAIALQPGRQSETVSKQNKT
KQNKKHRLFIGTERNGFICSSR*RSTKCH*CYA
ENLRVSHLSGVDQGTCLHKV*PHILQILHAETS
QPEERAFTVSFM*E*YNQKEPTRKYEI*STC*RA
IENHLCFSA*HRFGVCKQL*FCKKGK*LS*TSK
R*SFYHPKYGLQKPCQKTSTE*TRKSFLAGNQS
QCPTL*PWNCENSEDKAADTTSKDVCLH*IGI*F
F*RYR**GNLLQCGRSRIVTNHPSRNQG*NQFG
FCKKGCL*IF*DGCNKY*TSSTQ***FEHH*EA
CS*EASRKVSG*FCFKLACGAMWHKYSCQLITA*
EQQFITH*RQNECRKG*IL**KQTAWLSKEPT*
QMGWK*GNM***ADSQHRKKGRSEC*SPV*EKR
ME*AETAMLRES*RY*RCSLDNTK*QHSES**VV
FQK**TVRF**LT*WGV*IKCQSS*CIGRSK*G
R*IFWFFRENRLTGQ*SS*GFNM*K*KSSLQIS
RE*Y*RQNIWENLSEEGKPPQLKPCN*KSNYRSI
CY*ATDNTRASPHK*IKA*KETYIRPSS*GFYQ
ESRFGSSKDS*NDKSGN*PNGAEWSSDEYY**W
S*E*NKR*FYSE*EKS*PNRITRKRICFQNES*T
YKQQYKQYGTRIKYPQFKST*KE*AEEEVFYQA
YSCA*TSSQ*KSKPT*LY*IAN**LF*Q*RDKE
KKVQPNASQAQQKPTTHGR*RTCNWSQEE*QAK*
TDK*KT*QRYFPRAEVNKCTWFFY*VFKYQ*T*
RICQS*PSKRRKRRETRNS*SV**C*RPQRSHV
KWRKGFAN*KICRE*QYFIGTWY*LWHSGKYLVT
GS*HSREGKNRTK*MCESVCSI*KPQGTNSWLF
QR**K*HRRL*VSIGT*S*PQSGNKHRNGRK*T
*CSVFAEYIQGFKAPVICSVFKSRKCRRGMCNIL
CPLWVLKETKSKSHF*M*TKGRKSRKE*V*YQA
CTDS*YHCRLSCGWSER*AS**CQM*YQRRL*V
LSIISVQRQRNWTHYSK*TWTFTKPISYTTTFSH
QVIC*N*M*EKSARGKL*GTFNVT*KRNGK*EH
SKYSEHN*P**H*RKCF*RSQLKQY**SRFQY*
*SGLQY**NRFQ**KHSSRTR*KQRAKIECYA*I
RGFAT*GL*TKSSWK*L*AS*NKKARI*RSSSD
C*YRFLSISDFR*LRTAYGK*SCISGLF*DT**
PVR*W*NKGRY*FC*K*H*GKFCCF*QKRPERRA
*QES*PFHPYTFGSGLPKRGQEIRVLRRELI**
G*RASLLPTLVIW*SKQYTFSVY*A*HRCYRVS
V*EHRGEFIIIEE*LK*LQ*PGNIGKGISGTSP*
*GNKMFC*LVFFTVQ*IGRLDCKYKHPGSFLDW
FFQTNEASV*KPGSWSE*QGIGFR**RKRNGLG
RK*SRRAKHGFKLR*SSIWV*E*NKRL*RLLRAI
LSE*HFNHSAEGYHAT*PDKAPAGNG*TRSCVR
TAWEPAF*QLPFHHK*LFCP*GPAKSRTKHIRK
SSINFTEK**IPYKPESRRPFC*QV*GVCR*FYQ
*K*RTRSGKVIPF*MPIIR**VVHAQLLWESSE
*KLPISRGAH*GC*CGGATAGRVWATRFDGNIL
LAKARSRGNPLPGIWNQPLL**P*I*SF*RQSPR
VSSCWQHTIFNLCIESSPIESCRICPESSCCSY
Y*YCWV*CNGRKCEQGEARIDSFNRKGQQKNVH
GGVWPDPRRIYARVQVCQKTPHHFN*SNY*RDYS
CCYENR
C*VCV*TDTEIFSRNCGRKMGS*LFLG
DPVY*RKKNAE*A*F*SQRRCGQWKKPPRSKAS
KRIPGQKDLQGARNLLLWALHQHAHRSTGMDGTA
VWCFCGEGAFIIHPWHRCPPNCGCAARCLDRGQ
WLPCNWADV*GTCGDPRVGVGQCSTLPVPGAGH
LPDTPDPPQPLLTAASHRYRATGPQE*AYKVAFP
GPGSSSHSSVLLLSWLLNILCTSA*KGLLAMQG
SLKDFLLEVSLGNLP*AQNYGNFSPEKILKPFK
RHQLSKMLIHYLSALFFLFRLLLA*GWKHRVAWP
QENSWFP*VYFSKTLCSQRQRVRPFNGRRVLGI
DYVT*SQNSPWAVLKCWSGTLGRKF*GRY*K*K
GNLKPGHGGSRL*SQHFGRPRWADHWRSGVRNQP
GQHGETPSLLKIQKLAGHGGGHL*SQLLRWLRQ
ENHFSPGGGGCSEPRSYHGTPAWVTVRLWLKKK
KKKRKMKLEEISKSLRYIC*ISKECVLKQQKIFK
NRFPKTVF*FLISNK*NVYCCSSGI*SIPLKI*
DLWHEYFISIK*QIPPGRKLLLSLR*FFSFAPC
C*NHTAS*IILLAEGRKSVFHKPIIQDCL*LLEG
LGLP*PPQCARAVKT*LYKIRFVNVVLLTLQIN
LVANTS

Frame 2

DFLDGGQAVGFLR*LGPCAQEAFTLCSG*R**S
PGKGTGGPSDALGYWRGRVDFRS*QMGIL*RGV
GAEPERRKAL*TLGRGAVCRSRGKR*GSGRGH*
VSVGESS**ELEYALRGTLCL*KRRLVMRSGVPD
QPDQRGETPSLLKIQKLAGRGAAPATQEAEAGE
SLEPGRRRLQ*AEIAPLHSSLGDRARLSQNKTK
QNKTKNTGCSLEQKEMDLSALRVEEVQNVINAMQ
KILECPICLELIKEPVSTKCDHIFCKFCMLKLL
NQKKGPSQCPLCKNDITKRSLQESTRFSQLVEE
LLKIICAFQLDTGLEYANSYNFAKKENNSPEHLK
DEVSIIQSMGYRNRAKRLLQSEPENPSLQETSL
SVQLSNLGTVRTLRTKQRIQPQKTSVYIELGSD
SSEDTVNKATYCSVGDQELLQITPQGTRDEISLD
SAKKAACEFSETDVTNTEHHQPSNNDLNTTEKR
AAERHPEKYQGSSVSNLHVEPCGTNTHASSLQH
ENSSLLLTKDRMNVEKAEFCNKSKQPGLARSQHN
RWAGSKETCNDRRTPSTEKKVDLNADPLCERKE
WNKQKLPCSENPRDTEDVPWITLNSSIQKVNEW
FSRSDELLGSDDSHDGESESNAKVADVLDVLNEV
DEYSGSSEKIDLLASDPHEALICKSERVHSKSV
ESNIEDKIFGKTYRKKASLPNLSHVTENLIIGA
FVTEPQIIQERPLTNKLKRKRRPTSGLHPEDFIK
KADLAVQKTPEMINQGTNQTEQNGQVMNITNSG
HENKTKGDSIQNEKNPNPIESLEKESAFKTKAE
PISSSISNMELELNIHNSKAPKKNRLRRKSSTRH
IHALELVVSRNLSPPNCTELQIDSCSSSEEIKK
KKYNQMPVRHSRNLQLMEGKEPATGAKKSNKPN
EQTSKRHDSDTFPELKLTNAPGSFTKCSNTSELK
EFVNPSLPREEKEEKLETVKVSNNAEDPKDLML
SGERVLQTERSVESSSISLVPGTDYGTQESISL
LEVSTLGKAKTEPNKCVSQCAAFENPKGLIHGCS
KDNRNDTEGFKYPLGHEVNHSRETSIEMEESEL
DAQYLQNTFKVSKRQSFAPFSNPGNAEEECATF
SAHSGSLKKQSPKVTFECEQKEENQGKNESNIKP
VQTVNITAGFPVVGQKDKPVDNAKCSIKGGSRF
CLSSQFRGNETGLITPNKHGLLQNPYRIPPLFP
IKSFVKTKCKKNLLEENFEEHSMSPEREMGNENI
PSTVSTISRNNIRENVFKEASSSNINEVGSSTN
EVGSSINEIGSSDENIQAELGRNRGPKLNAMLR
LGVLQPEVYKQSLPGSNCKHPEIKKQEYEEVVQT
VNTDFSPYLISDNLEQPMGSSHASQVCSETPDD
LLDDGEIKEDTSFAENDIKESSAVFSKSVQKGE
LSRSPSPFTHTHLAQGYRRGAKKLESSEENLSSE
DEELPCFQHLLFGKVNNIPSQSTRHSTVATECL
SKNTEENLLSLKNSLNDCSNQVILAKASQEHHL
SEETKCSASLFSSQCSELEDLTANTNTQDPFLIG
SSKQMRHQSESQGVGLSDKELVSDDEERGTGLE
ENNQEEQSMDSNLGEAASGCESETSVSEDCSGL
SSQSDILTTQQRDTMQHNLIKLQQEMAELEAVLE
QHGSQPSNSYPSIISDSSALEDLRNPEQSTSEK
AVLTSQKSSEYPISQNPEGLSADKFEVSADSST
SKNKEPGVERSSPSKCPSLDDRWYMHSCSGSLQN
RNYPSQEELIKVVDVEEQQLEESGPHDLTETSY
LPRQDLEGTPYLESGISLFSDDPESDPSEDRAP
ESARVGNIPSSTSALKVPQLKVAESAQSPAAAHT
TDTAGYNAMEESVSREKPELTASTERVNKRMSM
VVSGLTPEEFMLVYKFARKHHITLTNLITEETT
HVVMKT
DAEFVCERTLKYFLGIAGGKWVVSYFWV
TQSIKERKMLNEHDFEVRGDVVNGRNHQGPKRA
RESQDRKIFRGLEICCYGPFTNMPTDQLEWMVQ
LCGASVVKELSSFTLGTGVHPIVVVQPDAWTEDN
GFHAIGQMCEAPVVTREWVLDSVALYQCQELDT
YLIPQIPHSHY*LQPATGTEPQDPKNELTKWPF
QALGAPLTLQSFYCPGY*IFYVHQPEKDFWLCKG
PLKIFCLKSPLEICHEHKIMVIFHLRRF*NHLN
ATN*ARC*FIIYQPYSFYSGCCWLRAGSTEWLG
LKRIAGFPKFTSLKPCVHKGRESDPSMEGECLGS
IM*LKVRIVLGQFSNVGVEHWGGNSEAGIRNEK
ET*NLGMVAHACNPSTLGGQGGQITGGQEFETS
LANMVKPHLY*KYRN*PVMVVDTCNPSYSGG*GR
RITSAREVEVAVSQDHTTALQPG*Q*DCGSKKK
KKKGK*N*KRFLKV*DIFARFLKNVF*NSRRFS
RTGFQRQSSNSSLVISKMFIVVALVYNPFLLKYK
TSGMNISYL*NDRSHQEGSCCFL*GDFFPLLPV
AETIQLHK*FCLLKEEKVFFINPLSRTVYSCWK
D*VFPSPPSVQGQ*RLDCTKYVL*MLCC*HCK*T
W*QTLP

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