Nonsense point mutations

namephenotypemutationexonbasecodonresultremarksource
NLLNDc.84T>A28428Tyr > stopnew
JALNDc.151C>T315151Arg > stopnew
53/00, 54/00, Family 26LNDc.151C>T315151Arg > stop(Bertelli et al., 2004; de Gemmis et al., 2010)
754-4, DDLNDc.151C>T315151Arg > stop(Tarle et al., 1991)
ASLNDc.151C>T315151Arg > stop(Sege-Peterson et al., 1992)
Estrie, LN-NLNDc.151C>T315151Arg > stop(O'Neill and Finette, 1998)
Fujimi, THLNDc.151C>T315151Arg > stop(Fujimori et al., 1990; Fujimori et al., 1991; Fujimori et al., 1994)
Kanagawa, KFLNDc.151C>T315151Arg > stop(Fujimori et al., 1994)
LN-E, CDSLNDc.151C>T315151Arg > stop(Jinnah et al., 2000)
MS, LN40-2LNDc.151C>T315151Arg > stop(Sege-Peterson et al., 1992)
NSLNDc.151C>T315151Arg > stop(Yamada et al., 1996)
NSLNDc.151C>T315151Arg > stop(Yamada et al., 2011a)
NSLNDc.151C>T315151Arg > stop(Yamada et al., 2011a)
NSLNDc.151C>T315151Arg > stop(Yamada et al., 2011a)
NSLNDc.151C>T315151Arg > stop(Yamada et al., 2011a)
Sagamie, LN-OLNDc.151C>T315151Arg > stop(O'Neill and Finette, 1998)
SheffordNAc.151C>T315151Arg > stop(Boyd et al., 1993; Davidson et al., 1991)
TB, LN68LNDc.151C>T315151Arg > stop(Jinnah et al., 2000)
LN131, AJLNDc.151C>T315151Arg > stopnew
LN208LNDc.151C>T315151Arg > stopnew
SBLNDc.151C>T315151Arg > stopnew
S-family,WSLNDc.325C>T4325109Gln > stop(De Gregorio et al., 2000a)
RJK 1930LNDc.325C>T4325109Gln > stop(Gibbs et al., 1990)
NSLNDc.325C>T4325109Gln > stop(Yamada et al., 2011a)
PWLNDc.368C>G4368123Ser > stop(Sege-Peterson et al., 1992)
NALNDc.430C>T6430144Gln > stop(Yamada et al., 2008)
OS;MSLNDc.430C>T6430144Gln > stopnew
JFLNDc.454C>T6454152Gln > stopnew
1321, LN11D, JGLNDc.508C>T7508170Arg > stop(Tarle et al., 1991)
5/00, Family 27LNDc.508C>T7508170Arg > stop(Bertelli et al., 2004; de Gemmis et al., 2010)
LN48, AJLNDc.508C>T7508170Arg > stop(Jinnah et al., 2000)
AlmodovarLNDc.508C>T7508170Arg > stop(Puig et al., 2001; Torres et al., 2000)
BLNDc.508C>T7508170Arg > stop(Gathof et al., 1998)
Family IXLNDc.508C>T7508170Arg > stop(Jurecka et al., 2008; Popowska et al., 1998)
Family XLNDc.508C>T7508170Arg > stop(Jurecka et al., 2008; Popowska et al., 1998)
GSHNDc.508C>T7508170Arg > stop(Burgemeister et al., 1994)
LN40-5, JCLNDc.508C>T7508170Arg > stop(Jinnah et al., 2000)
JG-810/MG-811LNDc.508C>T7508170Arg > stop(Tvrdik et al., 1998)
NBLNDc.508C>T7508170Arg > stop(Marcus et al., 1992)
North MymmsLNDc.508C>T7508170Arg > stop(Boyd et al., 1993; Davidson et al., 1991)
RJK 974LNDc.508C>T7508170Arg > stop(Gibbs et al., 1989)
LN148, SCLNDc.508C>T7508170Arg > stopnew
LN150, DPLNDc.508C>T7508170Arg > stopnew
LN169, LSZLNDc.508C>T7508170Arg > stopnew
LN171, KMLNDc.508C>T7508170Arg > stopnew
TF;LSLNDc.508C>T7508170Arg > stopnew
VVLNDc.508C>T7508170Arg > stopnew
65-05LNDc.618T>A9618206Cys > stop(Corrigan et al., 2011)
KB, LN138LNDc.634G>T9634212Gly > stop(Jinnah et al., 2000)