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Deletions

typenamephenotypemutationsequence contextresultremarksource
coding sequenceIllinois, RJK 951, RT, WELNV(-)12-(+)1delGCC…CGCCCG[GCC…TTA] TGGCG13 bp deleted; alternate start(Davidson et al., 1994; Gibbs and Caskey, 1987; Gibbs et al., 1989)
coding sequenceNWLND10del1frame shift E1(Jinnah et al., 2005)
coding sequenceRJK 1939, LN7, BBLND125delTCTA A[T]T ATG (2 base run)frame shift in E2(Gibbs et al., 1990)
coding sequenceRJK 2108, RKLND156-195delATG…CGAGA [TGTG…CCTC] TGTGT (4 base sequence)40 bp deleted in E3(Gibbs et al., 1990)
coding sequenceNS*LND156delTCGA GA[T] GTG1 bp deleted in E3(Willers et al., 1999)
coding sequence69/01LND194-195delTC2 bp deleted in E3(Bertelli et al., 2004)
coding sequenceZuLND196-197delTGCTC [TG]T GTG (run of 3 TG pairs)2 bp deleted in E3(Gathof et al., 1998)
coding sequenceLN28LND247-248delAAATC [AA]A GCA (3 base run)frame shift in E3(Jinnah et al., 2000)
coding sequenceNS*LND289-290delGTACT [GT]A GATframe shift in E3(Willers et al., 1999)
coding sequenceCheltenhamLND289-290delGTACT [GT]A GATframe shift in E3(Boyd et al., 1993; Davidson et al., 1991)
coding sequence289delGTLND289-290delGTACT [GT]A GATframe shift in E3(Kim et al., 1997)
coding sequenceRJK 1332, RCLND289-290delGTACT [GT]A GATframe shift in E3(Gibbs et al., 1989)
coding sequenceFamily 56LND292-298delGATTTTA7 bp deleted(O'Neill, 2004)
coding sequenceNS*LND307-308delAACTG [AA]G AGC2 bp deleted in E3(Willers et al., 1999)
coding sequenceRJK 1747, JMLND317-318delGTTAT T[GT] gtg (run of 2 GT pairs)frame shift in E3(Gibbs et al., 1990)
coding sequenceNS*LND317-318delGTTAT T[GT] gtg (run of 2 GT pairs)frame shift in E3(Yamada et al., 2004)
coding sequenceAndorraLND319-384del…exon 4 deleted(Puig et al., 2001; Torres et al., 2000)
coding sequenceCCLND322-389delGAC…67 bp deletion spanning E4-5(Jinnah et al., 2000)
coding sequenceMurciaLND333-334delAGAC[A G]GG GACframe shift in E4(Puig et al., 2001; Torres et al., 2000)
coding sequenceAsturiasLND342delAGAC AT[A] AAA (4 base run)frame shift in E4(Puig et al., 2001; Torres et al., 2000)
coding sequenceRJK 2019LND391delTGTC [T]TG ATT (2 base run)frame shift in E5(Gibbs et al., 1990)
coding sequenceNS*LND435-436delTTAC [T T]TG CTT (3 base run)2 bp deleted in E6(Willers et al., 1999)
coding sequenceLNF, LILND460-470delAAT…AG TAT [AAT…GAT] GGTCA (2 base sequence)11 bp deleted in E6(Jinnah et al., 2000)
coding sequenceRJK 1894, PKLND514-516delGTTAGT [GTT] GGA1 amino acid coded by E7 lost(Gibbs et al., 1990)
coding sequenceZHLND519-520delATGG[A T]AT AAG (run of 2 AT pairs)2 bp deleted(Jinnah et al., 2000)
coding sequenceMichigan, DALND535-537delGTTgTT [GTT] GGA (run of 2 GTT triplets)val179 lost(Davidson et al., 1989b)
coding sequenceRJK 855LND536-538delTTGgTT G[TT G]GA (run of 2 TTG triplets)val 179 lost(Gibbs and Caskey, 1987; Gibbs et al., 1989)
coding sequenceGLA 791LND548delTGAA A[T]T CCA (2 base run)frame shift in E8(Boyd et al., 1993)
coding sequenceNS*LND611delAframe shift in E9(Jinnah et al., 2005)
coding sequenceBrierly HillNA617-618delGTframe shift in E9(Davidson et al., 1991)
coding sequence631delALND629delAAGT G[A]A ACT (3 base run)frame shift in E9(Kim et al., 1997)
coding sequenceEvansville, RJK 894, BS, FELND643-663delAAA…AAGCA[AAA…CAG] AGTTC21 bp deleted in E9(Davidson et al., 1989b; Gibbs and Caskey, 1987; Gibbs et al., 1990)
coding sequenceJapan3HRH648-698delCAA…AAATA[CAA…CTA] TTGAC51 bp deleted in E9(Igarishi et al., 1989)
coding sequenceFE, 1423**LND82-84delTATCAT [TAT] GCT1 amino acid coded by E2 lostPreviously incorrectly reported as 80-82delATT(Jinnah et al., 2000)
coding sequence8-janLNDE1frame shift E1(Bertelli et al., 2004)
coding sequence11-janLNDE1frame shift E1(Bertelli et al., 2004)
coding sequenceM97/1LNDE11 exon deleted(Tvrdik et al., 1998)
coding sequenceLN11E, AE, HELNDE11 exon deleted(Jinnah et al., 2000)
coding sequenceSSLNDE11 exon deleted(Jinnah et al., 2000)
coding sequencePatient CLNDE11 exon deleted(Mizunuma et al., 2001)
coding sequencePatient DLNDE11 exon deleted(Mizunuma et al., 2001)
coding sequence12/00LNDE1-33 exons deleted(Bertelli et al., 2004)
coding sequenceG 137NAE1-33 exons deleted(Wehnert and Herrmann, 1990)
coding sequenceLN12LNDE1-33 exons deleted(Jinnah et al., 2000)
coding sequence110/01LNDE1-9whole gene deleted(Bertelli et al., 2004)
coding sequenceRJK 853, McALNDE1-9whole gene deleted(Gibbs et al., 1990; Yang et al., 1984)
coding sequenceRR, JRLNDE1-9whole gene deleted(Jinnah et al., 2000)
coding sequenceMGLNDE21 exon deleted(Jinnah et al., 2000)
coding sequenceAdachi, NTLNDE2-32 exons deleted(Fujimori et al., 1994)
coding sequenceNS*LNDE2-32 exons deleted(Singh et al., 1989)
coding sequenceG 316NAE2-32 exons deleted(Wehnert and Herrmann, 1990)
coding sequenceANLNDE2-32 exons deleted(Jinnah et al., 2000)
coding sequenceII-2LNDE2-32 exons deleted(Renwick et al., 1995)
coding sequence46/00LNDE2-98 exons deleted(Bertelli et al., 2004)
coding sequenceCa, 6/00LNDE2-98 exons deleted(Bertelli et al., 2004; Gathof et al., 1998)
coding sequenceG 323LNDE31 exon deleted(Wehnert and Herrmann, 1990)
coding sequenceP-JGLNDE3-97 exons deleted(Burgemeister et al., 1994)
coding sequenceLN52, FILNDE41 exon deleted(Jinnah et al., 2000)
coding sequenceCoLNDE41 exon deleted(Gathof et al., 1998)
coding sequenceLN40-1, PBLNDE41 exon deleted(Jinnah et al., 2000)
coding sequence24-janLNDE41 exon deleted(Bertelli et al., 2004)
coding sequenceRTLNDE41 exon deleted(Jinnah et al., 2000)
coding sequenceLN1, PBLNDE4-52 exons deleted(Brooks et al., 2001; Jinnah et al., 2000)
coding sequenceNS*LNDE4-63 exons deleted(Singh et al., 1989)
coding sequenceLN62, JOLNDE4-85 exons deleted(Brooks et al., 2001; Jinnah et al., 2000)
coding sequenceFamily 72LNDE4-96 exons deleted(O'Neill, 2004)
coding sequenceJS, RJK 849LNDE4-96 exons deleted(Yang et al., 1984)
coding sequenceLN10LNDE4-96 exons deleted(Jinnah et al., 2000)
coding sequenceRSLNDE51 exon deleted(Jinnah et al., 2000)
coding sequenceLN-K, MD-HLNDE5-62 exons deleted(Brooks et al., 2001; Jinnah et al., 2000)
coding sequenceRJK 984LNDE6-94 exons deleted(Fuscoe and Nelsen, 1994)
coding sequenceDLLNDE71 exon deleted(Sege-Peterson et al., 1992)
coding sequenceNS*LNDE7-93 exons deleted(Singh et al., 1989)
coding sequenceGM 3467LNDE7-93 exons deleted(Yang et al., 1984)
coding sequence2037024LNDE91 exon deleted(Bertelli et al., 2004)
coding sequenceC96/12LNDtandem genomic deletion involving E2partial E2 deletion(Tvrdik et al., 1998)
splice errorCase 2 or 4LND319-322del AATGtag[AAT G]ACsplice error; E4 excluded(Yamada et al., 1991; Yamada et al., 1992)
splice errorNS*LNDIVS2+1delGGAC AG[G] taa (2 base run)splice error; E2 excluded(Willers et al., 1999)
splice errorHenryville, LN-DLNDIVS5+1delGGAA [g]ta agtsplice error; 66 bp of I5 included, multiple mRNAs(Hunter et al., 1996)
splice errorNS*LNDIVS8+1-2delGTsplice error, E2 excluded(Yamada et al., 2004)
splice errorCase 5LNDIVS8-16 to E9+58 deltttct[gga…AGTT] CAAGTdeletion of splice acceptor with cryptic splice acceptor(Yamada et al., 1992)