exon	type of mutation	Nt No.	Nt mutations	AA No	AA effect	WB	antibody	clinical score	Nationality	author	year
6	Deletion	553	G del	172	fs/Ter	ND		WAS	Netherlands	Brooimans	2000
6	Deletion	570	T del	176	fs/Ter	ND		4	Italy	Wengler	1995
6	Deletion	540-593	54bp del	169	18aa del	Neg	5A5	3	Japan	Kawai	2002
6	Missense	593	G-T	187	Gly-Cys	ND		2E	USA	Derry/HMG	1995
6	Missense	593	G-T	187	Gly-Cys	ND		2EA	USA	Derry/HMG	1995
6	splicing defect	-1,int6	g-a		splicing defect	Neg	W-485, W-224	3	USA	Kwan/HMG	1995
6	splicing defect	ND	ND			Pos 1	Ab503	4	Japan	Imai	2004
6	splicing defect	+1,int6	g-a		splicing defect	ND		3	Germany	Schindelhauer	1996
6	splicing defect	+5,int6	g-a		splicing defect	Neg	W-485, W-224	3	USA	Kwan/PNAS	1995
6	splicing defect	+5,int6	g del		37bp ins int6, exon7 skipping	ND		NA	USA	Lemahieu	1999
6	splicing defect	+5,int6	g-a		splicing defect	Neg	W-485	3	USA	Shcherbina	1999
6	splicing defect	+5,int6	g-a		splicing defect	Neg	W-485	3	USA	Shcherbina	1999
6	splicing defect	+5,int6	g-a		splicing defect	Neg	W-485	3	USA	Shcherbina	1999
6	splicing defect	+5,int6	g-a		splicing defect	Neg	B4	3	USA	Falet	2002
6	splicing defect	+5,int6	g-a		splicing defect	pos	Ab503	2	Japan	Inoue	2002
6	splicing defect	+5,int6	g-a		splicing defect	pos	Ab503	3(5A)	Japan	Kawakami	2003
6	splicing defect	+5,int6	g-a			Pos 1	Ab503	1	Japan	Imai	2004
6	splicing defect	+5,int6	g-a	190	fs/Ter	pos	Ab503	1	USA	Zhu2	1997
6	splicing defect	+5,int6	g-a	190	38bp ins int6, exon7 skipping	pos	(143)	3	USA	Lemahieu	1999