exon	type of mutation	Nt No.	Nt mutations	AA No	AA effect	WB	antibody	clinical score	Nationality	author	year
1	Nonsense	71	C-T	13	Arg-STOP	Neg	Ab503	5	USA	Zhu	1995
1	Nonsense	71	C-T	13	Arg-STOP	ND		3	Germany	Schindelhauer	1996
1	Nonsense	71	C-T	13	Arg-Stop	Neg	W-485	4	USA	Remold-O'Donnel	1997
1	Nonsense	71	C-T	13	Arg-STOP	Neg	Ab503	4	USA	Zhu2	1997
1	Nonsense	71	C-T	13	Arg-Stop	Neg	W-485	4	USA	Shcherbina	1999
1	Nonsense	71	C-T	13	Arg-Stop	Neg 0	Ab503	3	Japan	Imai	2004
1	Nonsense	74	G-T	14	Glu-STOP	ND		4	Italy	Wengler	1995
1	Nonsense	92	C-G	20	Gln-STOP	Neg	JD1	3	UK	Qasim	2001
1	Nonsense	92	C-G	20	Gln-STOP	Neg	JD1	4	UK	Qasim	2001
1	Nonsense	131	C-T	33	Gln-STOP	NA	Ab503	4	Japan	Imai	2004
1	Nonsense	134	C-T	34	Arg-STOP	ND		1	USA	Derry/HMG	1995
1	Nonsense	134	C-T	34	Arg-STOP	ND		WAS	USA	Kwan/PNAS	1995
1	Nonsense	134	C-T	34	Arg-STOP	ND		WAS	Canada	Greer	1996
1	Nonsense	134	C-T	34	Arg-STOP	Neg	JD1	WAS	UK	MacCarthy-Morrogh	1999
1	Nonsense	134	C-T	34	Arg-STOP	ND		mild WAS	UK	Thompson	1999
1	Nonsense	155	C-T	41	Arg-STOP	ND		4	USA	Kolluri	1995
1	Nonsense	155	C-T	41	Arg-STOP	ND		4	Italy	Wengler	1995
1	Nonsense	155	C-T	41	Arg-STOP	ND		4	Italy	Wengler	1995
1	Nonsense	155	C-T	41	Arg-STOP	ND		WAS	Canada	Greer	1996
1	Nonsense	155	C-T	41	Arg-STOP	ND		WAS	Argentina	El-Hakeh	2002
2	Nonsense	196	C-A	54	Tyr-STOP	ND		WAS	Netherlands	Brooimans	2000
2	Nonsense	196	C-A	54	Tyr-STOP	Neg	Ab503	3	Japan	Itoh	2000
2	Nonsense	196	C-A	54	Tyr-STOP	Neg	5A5	WAS	Japan	Sasahara	2000
2	Nonsense	272	C-T	80	Gln-STOP	ND		3	USA	Kolluri	1995
2	Nonsense	298	C-A	88	Tyr-Stop	Neg	W-485	5	USA	Remold-O'Donnel	1997
3	Nonsense	329	C-T	99	Gln-STOP	Neg	Ab503	WAS	USA	Kwan/PNAS	1995
3	Nonsense	329	C-T skipping of exon 3(87bp)	99	Gln-STOP	Neg	Ab503	5	USA	Zhu	1995
3	Nonsense	332	G-R	100	Glu-STOP	ND		3	USA	Derry/HMG	1995
3	Nonsense	332	G-T	100	Glu-STOP	ND		4	USA	Kwan/HMG	1995
3	Nonsense	344	C-T	104	Glu-STOP	ND		WAS	Netherlands	Brooimans	2000
3	Nonsense	344	C-T	104	Glu-STOP	ND		WAS	Netherlands	Brooimans	2000
4	Nonsense	401	C-T	123	Gln-Stop	ND		3	Denmark	Schwartz	1996
4	Nonsense	458	C-T	142	Gln-STOP	ND		4	USA	Lemahieu	1999
4	Nonsense	458	C-T	142	Gln-STOP	Neg	JD1	3	UK	Qasim	2001
5	Nonsense	506	C-T	158	Gln-STOP	ND	ND		China	Chan/2002	2002
7	Nonsense	641	C-T	203	Gln-STOP	ND		3	Germany	Schindelhauer	1996
7	Nonsense	665	C-T	211	Arg-STOP	ND		4	USA	Kwan/HMG	1995
7	Nonsense	665	C-T	211	Arg-STOP	ND		4	Italy	Wengler	1995
7	Nonsense	665	C-T	211	Arg-STOP	ND		3	Germany	Schindelhauer	1996
7	Nonsense	665	C-T	211	Arg-STOP	ND		4	USA	Zhu2	1997
7	Nonsense	665	C-T	211	Arg-STOP	Neg	Ab503	4	USA	Zhu2	1997
7	Nonsense	665	C-T	211	Arg-STOP	Neg	3F3-A5	WAS	Japan	Ariga/99BJH	1999
7	Nonsense	665	C-T	211	Arg-STOP	ND		WAS	UK	Thompson	1999
7	Nonsense	665	C-T	211	Arg-STOP	ND		4	Italy	Allavena	2001
7	Nonsense	665	C-T	211	Arg-STOP	Neg	JD1	3	UK	Qasim	2001
7	Nonsense	717	C-G	228	Ser-STOP	ND		4	Italy	Wengler	1995
9	Nonsense	866	G-T	278	Gly-STOP	ND		3	Germany	Schindelhauer	1996
9	Nonsense	887	G-A	285	Glu-STOP	ND		4	Italy	Wengler	1995
9	Nonsense	923	C-T	297	Gln-STOP	Neg	Ab503	5	USA	Zhu2	1997
10	Nonsense	995	C-T	321	Arg-STOP	Neg	Ab503	3	USA	Zhu	1995
10	Nonsense	995	C-T	321	Arg-STOP	Neg	Ab503	2	USA	Zhu	1995
10	Nonsense	995	C-T	321	Arg-STOP	ND		2I	Germany	Schindelhauer	1996
10	Nonsense	995	C-T	321	Arg-STOP	Neg	Ab503	5	USA	Zhu2	1997
10	Nonsense	995	C-T	321	Arg-STOP	ND		2	USA	Lemahieu	1999
10	Nonsense	995	C-T	321	Arg-STOP	Neg	5A5	WAS	Japan	Sasahara	2000
10	Nonsense	995	C-T	321	Arg-STOP	Neg	11G8B7	4	Italy	Allavena	2001
10	Nonsense	995	C-T	321	Arg-STOP	ND		4	Spain	Fillat/2001	2001
10	Nonsense	995	C-T	321	Arg-STOP	ND		4	Spain	Fillat/2001	2001
10	Nonsense	995	C-T	321	Arg-STOP	ND		4	Spain	Fillat/2001	2001
10	Nonsense	995	C-T	321	Arg-Stop	Neg tr	Ab503	3	Japan	Imai	2004
10	Nonsense	995	C-T	321	Arg-Stop	Neg tr	Ab503	4	Japan	Imai	2004
10	Nonsense	1124	C-T	364	Arg-STOP	ND		2	USA	Lemahieu	1999
10	Nonsense	1352	C-T	440	Gln-STOP	ND		4	USA	Lemahieu	1999
11	Nonsense	1388	G-T	452	Glu-STOP	ND	ND		China	Chan/2002	2002