exon	type of mutation	Nt No.	Nt mutations	AA No	AA effect	WB	antibody	clinical score	Nationality	author	year
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
2	Insertion	218	G ins	62	fs/78X	ND		WAS	UK	Thompson	1999
3	Insertion	364	C ins	111	fs/121X	ND		3	Italy	Giliani	1999
3	Insertion	364	C ins	111	fs/Ter121	Neg	11G8B7	4	Italy	Allavena	2001
4	Insertion	395	6bp ins GGAGAT	121	D121insGD	Neg	5A5	WAS	Japan	Sasahara	2000
4	Insertion	410	C ins	125	fs/Ter	ND		WAS	Canada	Greer	1996
4	Insertion	434	6bp ins	154	Asp/Glu ins	ND		WAS	Canada	Greer	1996
4	Insertion	434	6bp ins	166	Asp/Glu ins	Neg	3F3-A5	WAS	USA	Kwan/PNAS	1995
4	Insertion	469	A ins	145	fs/Ter	ND		4	Italy	Wengler	1995
5	Insertion	512	C ins	160	fs/Ter	ND		2E	Italy	Villa	1995
5	Insertion	512	C ins	160	fs/Ter	ND		1	Italy	Wengler	1995
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
9	Insertion	854	G ins		fs/X	Neg	JD1	1	UK	Qasim	2001
9	Insertion	854	G ins		fs/X	Neg	JD1	1	UK	Qasim	2001
9	Insertion	959	38bp ins	309	fs/Ter320	ND		WAS	Argentina	El-Hakeh	2002
9	Insertion	965	114bp ins t-c at +2nt of intron 9	311	ins 38 aa	ND		4	USA	Zhu	1995
10	Insertion	981	C ins	317	fs/X	Neg	3F3-A5	WAS	Japan	Ariga/99BJH	1999
10	Insertion	1016	C ins	328	fs/335X	ND		WAS	UK	Thompson	1999
10	Insertion	1025	A ins	330	fs/Ter	Neg	Ab503	3	USA	Zhu2	1997
10	Insertion	1029	T ins	335	fs/Ter	pos	Ab503	2	USA	Zhu2	1997
10	Insertion	1035	G ins	335	fs/Ter	ND		4	USA	Kwan/HMG	1995
10	Insertion	1035	G ins	335	fs/Ter	ND		2I	USA	Rohrer	1996
10	Insertion	1035	G ins	335	fs/Ter	ND		1	USA	Rohrer	1996
10	Insertion	1053	G ins	340	fs/Ter	ND		4	Denmark	Schwartz	1996
10	Insertion	1055	T ins	341	fs/Ter	ND	5A5	WAS	USA	Orange	2002
10	Insertion	1253	GG ins	408	fs/444X	Neg	JD1	WAS	UK	MacCarthy-Morrogh	1999
10	Insertion	1269	17bp ins	412	fs/Ter	ND		4	USA	Kolluri	1995
10	Insertion	1301	G ins	423	fs/Ter	ND		4	USA	Ochs(unpublished)	1997
10	Insertion	1305	G ins	424	fs/Ter	ND		4	USA	Kolluri	1995
10	Insertion	1305	G ins	424	fs/Ter	ND		4	Denmark	Schwartz	1996
10	Insertion	1305	G ins	424	fs/X	Neg	JD1	4	UK	Qasim	2001
10	Insertion	1305	G ins	424	>del 19bp back mutation	Neg	3F3-A5	5A	USA	Wada/2003	2003
10	Insertion	1305	G ins	424	>del 19bp back mutation	Neg	3F3-A5	5M	USA	Wada/2003	2003
10	Insertion	1372	13bp ins (9bp del, 11bp ins intron 10)	449	fs/Ter	ND		4	USA	Zhu	1995
11	Insertion	1467	G ins	478	fs/Ter	ND		3	USA	Derry/HMG	1995
11	Insertion	1467	G ins	478	fs/Ter	ND		5	Spain	Fillat/2001	2001
10	Insertion,Deletion	1099,1127	A ins, G del	356-365	PRGPPPPGRG-TPGTPTPRPR	ND		WAS	Japan	Ariga/98Blood	1998
10	Insertion/deletion	1016,1029	C ins, G del	328-32	RPPIV-PAPYC	pos	3F3-A5	2E	USA	Stewart	1996