exon	type of mutation	Nt No.	Nt mutations	AA No	AA effect	WB	antibody	clinical score	Nationality	author	year
7	Deletion	605	GG del	191	fs/Ter	ND		4	USA	Kwan/HMG	1995
7	Deletion	705	64bp del	224	fs/Ter	Neg	Ab503	4	USA	Ochs(unpublished)	1997
7	Deletion	763	A del	244	fs/Ter	ND		WAS	USA	Shcherbina	1999
7	Deletion	763	A del	244	fs/Ter	ND		WAS	USA	Orange	2002
7	Deletion	594-768	274bp del	188	fs/202X	Neg 0	Ab503	5A/M	Japan	Imai	2004
7	Deletion	594-1487	del ex 7-11	187-485	fs/Ter	ND		WAS	Argentina	El-Hakeh	2002
7	Insertion	685	CGCA ins	218	fs/Ter	ND	ND		China	Chan/2002	2002
7	Insertion	695	A ins		fs/Ter	ND		4	Denmark	Schwartz	1996
7	Insertion	768	A ins	245	fs/Ter	ND		3	USA	Derry/HMG	1995
7	Missense	741	G-C	236	Ala-Glu	ND		1	Italy	Villa	1995
7	Missense	741	C-G	236	Ala-Gly	ND		1	Italy	Wengler	1995
7	Missense	741	C-G	236	Ala-Gly	pos	11G8B7	1	Italy	Allavena	2001
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
7	splicing defect	-1,int7	g del	246	fs/246X	Neg	Ab503	5A	Japan	Itoh	2000
7	splicing defect	+1,int7	g del		splicing defect	ND		4	Italy	Wengler	1995
7	splicing defect	+1,int7	g-a		splicing defect	ND		3	Italy	Giliani	1999
7	splicing defect	+5,int7	g-a		splicing defect	Neg	W-485	WAS	Germany	Shcherbina	1999
7	splicing defect	+5,int7	g-a		splicing defect	Neg	W-485	WAS	Germany	Shcherbina	1999