Splice error point mutations

namephenotypemutationresultremarksource
158/01LNDIVS9-1G>Anot reported(Bertelli et al., 2004)
SevillaLNDIVS7-2A>GE8 excluded(Puig et al., 2001; Torres et al., 2000)
NS*LNDIVS7-1G>AE8 excluded(Willers et al., 1999)
3/00LNDIVS7-1G>AE8 excluded(Bertelli et al., 2004)
NS*LNDIVS7+5G>CE7 excluded(Willers et al., 1999)
LN157, JH, CHLNDIVS7+5G>AE7 excluded(Jinnah et al., 2005)
LN67, MPLNDIVS7+5G>AE7 excluded(Jinnah et al., 2000)
RJK 1934LNDIVS7+5G>AE7 excluded(Gibbs et al., 1990)
NS*LNDIVS7-9T>AE8 excluded(Yamada et al., 2004)
NS*LNDIVS7+2T>CE7 excluded, early termination(Yamada et al., 2004)
DL***LNDIVS7+1G>AE7 excludedPreviously reported as 375 with a different result(Jinnah et al., 2000)
533-9T>ALNDIVS7-9T>AE8 excluded(Kim et al., 1997)
Patient BLNDIVS7-9T>GE8 excluded(Mizunuma et al., 2001)
ASLNDIVS8-2A>G17 bp of E9 excluded(Marcus et al., 1993a)
RJK 906, GM 1899LNDIVS8-2A>T17 bp of E9 excluded(Gibbs et al., 1990; Gibbs et al., 1989)
17/00LNDIVS8-1G>Cnot reported(Bertelli et al., 2004)
NS*LNDIVS8-1G>A17 bp of E9 excluded(Yamada et al., 2004)
NS*LNDIVS8+6T>CE8 excluded(Willers et al., 1999)
LN33LNDIVS8+6T>CE8 excluded(Jinnah et al., 2000)
LN29, JRLNDIVS8+6T>GE8 excluded(Jinnah et al., 2000)
LN-I, PeruLNDIVS8+5G>TE8 excluded(Jinnah et al., 2000)
RJK 888, GM 7092LNDIVS8+5G>AE8 excluded(Gibbs et al., 1990; Gibbs et al., 1989)
Shinagawa, TSLND538G>AE8 excluded(Fujimori et al., 1994)
Patient ALNDIVS6+1G>CE6 excluded(Mizunuma et al., 2001)
Chermside, RWLNDIVS6+1G>AE6 excluded, multiple mRNAs(Gordon et al., 1991)
LN35, COLND209G>Texclusion of 208-318(Jinnah et al., 2000)
JCHRNDIVS2+1G>AE2 excluded(Jinnah et al., 2000)
12-janLNDIVS2+1G>Cnot reported(Bertelli et al., 2004)
RJK 1760, CBLNDIVS1-2A>TE2 excluded(Gibbs et al., 1990)
LN5, BNLNDIVS1-2A>GE2 excluded(Jinnah et al., 2000)
NS*LNDIVS1-1G>CE2 excluded(Yamada et al., 2004)
CSHRHIVS1+47G>Tinclusion of extra sequences in mRNA(Gaigl et al., 2001)
NS*LNDIVS1+1G>Tinclusion of IVS1+1 To 49 in mRNA(Yamada et al., 2004)
LN11B, LRHRNDIVS1+1G>Tinclusion of IVS1+1 to 49 in mRNA(Jinnah et al., 2000; Jinnah et al., 2005)
MMLNVIVS1+1G>Tinclusion of IVS1+1 to 49 in mRNA(Jinnah et al., 2000)
KeioLNDIVS3+1G>TE3 excluded, multiple mRNAs(Yamada et al., 1993)
Q109XLND325C>TE4 excluded(Kim et al., 1997)
NS*LNDIVS6+1G>AE6 excluded, multiple mRNAs(Willers et al., 1999)
DBHRNDIVS5+1G>Aaberrant mRNA(Jinnah et al., 2000)
NS*LNDIVS5-2A>Gaberrant mRNA(Yamada et al., 2004)
Richelieu, LN-MLNDIVS5-1G>AE6 excluded, 403delG(Jinnah et al., 2000)
TLHRHIVS5+1229A>Gmultiple mRNAs(Sege-Peterson et al., 1992)
Patient 4LNDIVS4-1G>AE5 excluded(Mak et al., 2000)
JR, RRLNDIVS4+1G>TE4 excluded(Jinnah et al., 2000)
Family 28LNDIVS4-2A>CE5 excluded(O'Neill, 2004)
LN66, MDLNDIVS3-2A>GE4 excluded(Jinnah et al., 2000)
NS*LNDIVS3-1G>TE4 excluded(Yamada et al., 2004)
JLYHRNDIVS1+1G>Ainclusion of IVS1+1 to 49 in mRNA(Marcus et al., 1993a)