Duplications

typenamephenotypemutationsequence contextresultremarksource
Coding sequencesZaragoza II, LN-HLNDc.102_103dupGGGAA AGG G[GG] TG (6 base run)frame shift in exon 2(Puig et al., 2001; Torres et al., 2000)
Coding sequences20/00, Family 11LNDc.212dupGAAG GGG GG[G]C (6 base run)frame shift in exon 3(Bertelli et al., 2004; de Gemmis et al., 2010)
Coding sequences2037039, Family 12LNDc.212dupGAAG GGG GG[G]C (6 base run)frame shift in exon 3(Bertelli et al., 2004; de Gemmis et al., 2010)
Coding sequencesIJLNDc.212dupGAAG GGG GG[G]C (6 base run)frame shift in exon 3(Burgemeister et al., 1994)
Coding sequences1650, CWLNDc.212dupGAAG GGG GG[G]C (6 base run)frame shift in exon 3(Tarle et al., 1991)
Coding sequencesRJK 866, CWLNDc.212dupGAAG GGG GG[G]C (6 base run)frame shift in exon 3(Gibbs et al., 1989)
Coding sequences34MM/95LNDc.212dupGAAG GGG GG[G]C (6 base run)frame shift in exon 3(Tvrdik et al., 1998)
Coding sequencesNS, Family ALNDc.212dupGAAG GGG GG[G]C (6 base run)frame shift in exon 3Original reported as 310insG (Kim et al., 1997)(Kim et al., 1997) (Yamada et al., 2011a)
Coding sequencesNSLNDc.212dupGAAG GGG GG[G]C (6 base run)frame shift in exon 3Original reported as 213insG (Willers et al., 1999).(Willers et al., 1999)
Coding sequencesLN133, ACLNDc.212dupGAAG GGG GG[G]C (6 base run)frame shift in exon 3new
Coding sequencesLN135LNDc.212dupGAAG GGG GG[G]C (6 base run)frame shift in exon 3new
Coding sequencesLN149, NYLNDc.212dupGAAG GGG GG[G]C (6 base run)frame shift in exon 3new
Coding sequencesLN153, DCLNDc.212dupGAAG GGG GG[G]C (6 base run)frame shift in exon 3new
Coding sequencesLN173, CDLNDc.212dupGAAG GGG GG[G]C (6 base run)frame shift in exon 3new
Coding sequencesBrusselsLNDc.212dupGAAG GGG GG[G]C (6 base run)frame shift in exon 3new
Coding sequencesDDLNDc.212dupGAAG GGG GG[G]C (6 base run)frame shift in exon 3new
Coding sequencesLN55, CMLNDc.219dupATAT AAA[A] TTCframe shift in exon 3(Jinnah et al., 2000)
Coding sequencesCodicoteLNDc.297dupTGAT TTT[T] ATC (4 base run)frame shift in exon 3(Boyd et al., 1993; Davidson et al., 1991)
Coding sequencesBTLNDc.297dupTGAT TTT[T] ATC (4 base run)frame shift in exon 3new
Coding sequences330insALNDc.331dupAagtca[A]acaggframe shift in exon 3(Yamada et al., 2007)
Coding sequencesCartagena, LN-HLNDc.406dupAGAT[A] ATA ATT (creates ATA repeat)frame shift in exon 6(Puig et al., 2001; Torres et al., 2000)
Coding sequencesABLNDc.406dupAGAT[A] ATA ATT (creates ATA repeat)frame shift in exon 6(Jinnah et al., 2000)
Coding sequencesNSLNDc.435_438dupTTTGAGACTTTG[TTTG]CTTTCCframe shift in exon 6(Yamada et al., 2007)
Coding sequences1656, CWLNDc.437dupTACT TT[T]G CTT (3 base run)frame shift in exon 6(Tarle et al., 1991)
Coding sequences56/00, Family 13LNDc.506dupCACC CC[C]A CGA (4 base run)frame shift in exon 7(Bertelli et al., 2004; de Gemmis et al., 2010)
Coding sequences ValenciaLNDc.50_51dupATCCA GGT TAT [AT]Gframe shift in exon 2new
Coding sequences1266, PWLNDc.512_513dupGTCGA A[GT]GT GTT (run of 2 GT pairs)frame shift in exon 7(Tarle et al., 1991)
Coding sequences65-99LNDc.532+2dupTagactttgttggframe shift in exon 7(Corrigan et al., 2011)
Coding sequencesMWLNDc.572_579dup8 bp duplicationframe shift in exon 8(Jinnah et al., 2000)
Coding sequencesChicago, DMLNDc.57dupTGAC C[T]TT GAT (2 base run)frame shift in exon 2(Davidson et al., 1989b)
Coding sequencesNSLNDc.592_593dupTAGAA TA[TA]C TTC (creates TA repeat)frame shift in exon 8(Willers et al., 1999)
Coding sequencesCoorparoo, JGLNDc.71dupTTGC AT[T]A CCTframe shift in exon 2(Gordon et al., 1991)
Coding sequencesFamily 14LNDc.89_96dupgctgaggatttg [aggatttg]gaaaframe shift(de Gemmis et al., 2010)
Coding sequencesLN26LNDexons 2-3 duplicated2 exons duplicatedexon 2-3 duplicated(Jinnah et al., 2000)
Coding sequencesGM 6804HNDexons 2-3 duplicated13.7 Kb duplicated with rare reversionexon 2-3 duplicated(Monnat et al., 1992; Wilson et al., 1986)
Coding sequencesGM 1622, DM, Case 32-26HNDexons 2-3 duplicated2 exons duplicated with rare reversionexon 2-3 duplicated(Jinnah et al., 2010; Sege-Peterson et al., 1992; Yang et al., 1984; Yang et al., 1988)
Coding sequencesHJHNDexons 7-8 duplicated2 exons duplicatedexon 7-8 duplicated(Marcus et al., 1993b)
Coding sequencesPJLNDexons 7-8 duplicated2 exons duplicatedexon 7-8 duplicated(Jinnah et al., 2000)
Splice error24-00LNDc.116_124[3]Dupe2 3replace 13nt of authentic sequence(Corrigan et al., 2011)
Splice errorLN34, TSLNDc.373_374dupTTACT TT[TT]A ACT (3 base run)splice error; exon 4-5 excluded(Jinnah et al., 2000; Jinnah et al., 2006)