Nonsense point mutations


name	phenotype	mutation	exon	base	codon	result	source
53/00	LND	C > T	3	151	51	arg > stop	(Bertelli et al., 2004)
TB, LN68	LND	C > T	3	151	51	arg > stop	(Jinnah et al., 2000)
Shefford	NA	C > T	3	151	51	arg > stop	(Boyd et al., 1993; Davidson et al., 1991)
Sagamie, LN-O	LND	C > T	3	151	51	arg > stop	(O'Neill and Finette, 1998)
NS*	LND	C > T	3	151	51	arg > stop	(Yamada et al., 1996)
MS, LN40-2	LND	C > T	3	151	51	arg > stop	(Sege-Peterson et al., 1992)
LN-E, CDS	LND	C > T	3	151	51	arg > stop	(Jinnah et al., 2000)
Kanagawa, KF	LND	C > T	3	151	51	arg > stop	(Fujimori et al., 1994)
Fujimi, TH	LND	C > T	3	151	51	arg > stop	(Fujimori et al., 1990; Fujimori et al., 1991; Fujimori et al., 1994)
Estrie, LN-N	LND	C > T	3	151	51	arg > stop	(O'Neill and Finette, 1998)
AS	LND	C > T	3	151	51	arg > stop	(Sege-Peterson et al., 1992)
754-4, DD	LND	C > T	3	151	51	arg > stop	(Tarle et al., 1991)
54/00	LND	C > T	3	151	51	arg > stop	(Bertelli et al., 2004)
RJK 1930	LND	C > T	4	325	109	gln > stop	(Gibbs et al., 1990)
PW	LND	C > G	4	368	123	ser > stop	(Sege-Peterson et al., 1992)
1321, LN11D, JG	LND	C > T	7	508	170	arg > stop	(Tarle et al., 1991)
RJK 974	LND	C > T	7	508	170	arg > stop	(Gibbs et al., 1989)
North Mymms	LND	C > T	7	508	170	arg > stop	(Boyd et al., 1993; Davidson et al., 1991)
NB	LND	C > T	7	508	170	arg > stop	(Marcus et al., 1992)
JG810	LND	C > T	7	508	170	arg > stop	(Tvrdik et al., 1998)
LN40-5, JC	LND	C > T	7	508	170	arg > stop	(Jinnah et al., 2000)
GS	HRND	C > T	7	508	170	arg > stop	(Burgemeister et al., 1994)
B	LND	C > T	7	508	170	arg > stop	(Gathof et al., 1998)
Almodovar	LND	C > T	7	508	170	arg > stop	(Puig et al., 2001; Torres et al., 2000)
LN48, AJ	LND	C > T	7	508	170	arg > stop	(Jinnah et al., 2000)
5/00	LND	C > T	7	508	170	arg > stop	(Bertelli et al., 2004)
DB	LND	A > T	8	602	201	asp > val	(Jinnah et al., 2000)
KB	LND	G > T	9	634	212	gly > stop	(Jinnah et al., 2000)