exon	type of mutation	Nt No.	Nt mutations	AA No	AA effect	WB	antibody	clinical score	Nationality	author	year
1	Deletion	total del				Neg 0	Ab503	3	Japan	Imai	2004
1	Deletion	45	G del	4	fs/44X	Neg	5A5	WAS	Japan	Sasahara	2000
1	Deletion	45	G del	4	fs/44X	Neg	5A5	WAS	Japan	Sasahara	2000
1	Deletion	65	G del	12	fs/X	ND		3	Japan	Ariga/97PedRes	1997
1	Deletion	116	C del	27	fs/Ter	Neg	3F3-A5	4	Italy	Wengler	1995
1	Deletion	122	CAC del	30	His deletion	ND		2I	USA	Kolluri	1995
1	Deletion	122	CAC del	30	His deletion	ND		XLT	Argentine	El-Hakeh	2002
1	Deletion	138	T del	34	fs/Ter	ND		3	USA	Kolluri	1995
1	Deletion	141	TT del	26	Phe-STOP	ND		4	Italy	Wengler	1995
1	Deletion	141	TT del	26	Phe-STOP	pos	Ab503	4	USA	Zhu2	1997
1	Deletion	1-768	768bp del	1	fs/Ter	Neg	JD1	WAS	UK	MacCarthy-Morrogh	1999
1	Deletion	41-45	G del	4	fs/44X	Neg	Ab503	4	Japan	Itoh	2000
1	Deletion	107,108	2bp deletion	36	fs/Ter	ND		4	Italy	Wengler/Lancet	1995
1	Deletion	140,141	del TT	36	Phe-STOP	Neg 0	Ab503	2<1	Japan	Imai	2004
1	Deletion	156,161	del G(156), T(161)	41	fs/Ter	ND		3	Germany	Schindelhauer	1996
1	Insertion	62	C ins	37	fs/Ter	Neg	Ab503	3	USA	Zhu	1995
1	Insertion	65	G ins	12	fs/37X	ND		4	USA	Lemahieu	1999
1	Insertion	146	C ins	37	fs/Ter	ND		WAS	Canada	Greer	1996
1	Insertion	62-64	C ins	11	fs/37X	Neg ND	Ab503	5M	Japan	Imai	2004
1	Missense	52	G-A	6	Met-Ile	pos	Ab503	1	Japan	Itoh	2000
1	Missense	52	G-A	6	Met-Ile	pos	Ab503	1	Japan	Itoh	2000
1	Missense	105	C-T	24	Ser-Phe	Pos 1	Ab503	5A	Japan	Imai	2004
1	Missense	113	C-T	27	Leu-Phe	pos	Ab503	1	USA	Derry/HMG	1995
1	Missense	125	G-A	31	Glu-Lys	ND		4	USA	Kolluri	1995
1	Missense	125	G-A	31	Glu-Lys	ND		3	Germany	Schindelhauer	1996
1	Missense	125	G-A	31	Glu-Lys	ND		3	Japan	Ariga/97PedRes	1997
1	Missense	125	G-A	31	Glu-Lys	Neg	3F3-A5	WAS	Japan	Ariga/99BJH	1999
1	Missense	125	G-A	31	Glu-Lys	Neg	11G8B7	3	Italy	Allavena	2001
1	Missense	125	G-A	31	Glu-Lys	Neg	JD1	2	UK	Qasim	2001
1	Missense	126	A-G	31	Glu-Gly	Neg	JD1	4	UK	Qasim	2001
1	Missense	127	G-C	31	Glu-Asp	ND		WAS	Canada	Greer	1996
1	Missense	150	C-T	39	Leu-Pro	ND		4	USA	Kwan/HMG	1995
1	Missense	150	C-T	39	Leu-Pro	pos	Ab503	2	USA	Zhu2	1997
1	Missense	150	C-T	39	Leu-Pro	pos	Ab503	2	USA	Zhu2	1997
1	Missense	150	T-C	39	Leu-Pro	pos	11G8B7	2	Italy	Allavena	2001
1	Missense	153	G-T	40	Gly-Val	ND		4	Israeli	Rottem	2000
1	Missense	155	C-G	41	Arg-Gly	pos	3F3-A5	2E	USA	Stewart	1996
1	Missense	163	C-G	43	Cys-Trp	pos	W-485, W-224	3	USA	Kwan/PNAS	1995
1	Missense	138/139	T-A/C-T	35	Leu-His	pos	Ab503	5	USA	Zhu2	1997
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
1	splicing defect	+1,int1	g-a		splicing defect	Neg	W-485, W-224	1	USA	Kwan/HMG	1995
1	splicing defect	+2,int1	t-g		fs/Stop	Neg 0	Ab503	3	Japan	Imai	2004