exon	type of mutation	Nt No.	Nt mutations	AA No	AA effect	WB	antibody	clinical score	Nationality	author	year
UT	Deletion	ND	ND			Neg	11G8B7	4	Italy	Facchetti	1998
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
2	Deletion	206	C del	75	fs/Ter	ND		5	USA	Zhu2	1997
2	Deletion	211	T del	59	fs/75X	Neg	Ab503	5	USA	Derry/Cell	1994
2	Deletion	211	T del	59	fs/75X	Neg	Ab503	5	USA	Derry/Cell	1994
2	Deletion	211	T del	59	fs/Ter	ND		3	Germany	Schindelhauer	1996
2	Deletion	248	G del	72	fs/Ter	ND		WAS	USA	Kwan/PNAS	1995
2	Deletion	260	A del	76	fs/126X	Neg 0	Ab503	5A/M	Japan	Imai	2004
2	Deletion	268	C del	77	fs/Ter	ND		1	USA	Kolluri	1995
2	Deletion	283	CTTCA del	84	fs/119X	Neg 0	Ab503	4	Japan	Imai	2004
3	Deletion	326	G del	98	fs/Ter	Neg	W-485, W-224	3	USA	Kwan/HMG	1995
3	Deletion	384	T del	117	fs/Ter	ND	ND		China	Chan/2002	2002
3	Deletion	308-768	461bp del	93	fs/105X	Neg	Ab503	5A	Japan	Itoh	2000
3	Deletion	312/313	GT del	126	fs/Ter	ND		4	USA	Zhu2	1997
4	Deletion	406	G del	125	fs/126X	Neg 0	Ab503	4	Japan	Imai	2004
4	Deletion	424	C del	130	fs/Ter	ND		4	USA	Kwan/HMG	1995
4	Deletion	425	G del	130	fs/Ter	ND		4	USA	Kolluri	1995
4	Deletion	425	G del	130	fs/Ter	ND		4	Denmark	Schwartz	1996
4	Deletion	484,485	2bp del	167	fs/Ter	Neg	H-250	WAS	Italy	Dupre	2002
5	Deletion	516	C del	161	fs/X	Neg	JD1	3	UK	Qasim	2001
5	Deletion	516	C del	161	fs/X	ND		WAS	Argentina	El-Hakeh	2002
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
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
8	Deletion	768	19bp del	245	fs/Ter	ND		WAS	Netherlands	Brooimans	2000
8	Deletion	789	G del	253	fs/260X	ND		2	USA	Lemahieu	1999
9	Deletion	899	C del	290	fs/307X	Neg	Ab503	3	Japan	Itoh	2000
9	Deletion	906	ACG-CA	291	fs/307X	ND		5	USA	Lemahieu	1999
9	Deletion	907	C del	291	fs/291X	pos	11G8B7	2	Italy	Facchetti	1998
9	Deletion	908	4bp del	292	fs/Ter	ND		WAS	Japan	Ariga/99BJH	1999
9	Deletion	911	T del	292	fs/Ter	ND		WAS	Netherlands	Brooimans	2000
9	Deletion	922	C del	296	fs/Ter	ND		3	Japan	Ariga/JI	2001
9	Deletion	925	G del	297	fs/Ter307	ND		WAS	Argentina	El-Hakeh	2002
9	Deletion	953	12bp del A953G(ATGŮgtg)new spice site	307	del 4 aa	ND		2	USA	Zhu	1995
10	Deletion	984	C del	318	fs/Ter	ND	ND		China	Chan/2002	2002
10	Deletion	1019	C del	328	fs/444X	ND		2	Spain	Fillat/2001	2001
10	Deletion	1019	C del	328	fs/444X	ND		5	Spain	Fillat/2001	2001
10	Deletion	1019	C del	328	fs/444X	ND		4	Spain	Fillat/2001	2001
10	Deletion	1019	C del	328	fs/444X	ND		4	Spain	Fillat/2001	2001
10	Deletion	1030	6bp del	332	fs/Ter	ND		WAS	USA	Ochs(unpublished)	1997
10	Deletion	1030	G del	333	fs/Ter	Neg	Ab503	4	USA	Zhu2	1997
10	Deletion	1030	G del	333	fs/444X	pos	11G8B7	3	Italy	Facchetti	1998
10	Deletion	1035	G del	333	fs/Ter	ND		WAS	Canada	Greer	1996
10	Deletion	1035	G del	333	fs/Ter	ND		WAS	Canada	Greer	1996
10	Deletion	1086	C del	351	fs/Ter	Neg	W-485, W-224	1	USA	Kwan/HMG	1995
10	Deletion	1086	C del	351	fs/Ter	ND		4	Italy	Wengler	1995
10	Deletion	1086	C del	351	fs/Ter	ND		5	Japan	Ariga/97PedRes	1997
10	Deletion	1109	C-A, C del	359	fs/Ter	ND		2E	USA	Derry/HMG	1995
10	Deletion	1109	C del	444	fs/Ter	Neg	Ab503	5	USA	Zhu2	1997
10	Deletion	1119	C del	444	fs/444X	ND		4	USA	Kwan/HMG	1995
10	Deletion	1119	C del	444	fs/444X	Neg	5A5	WAS	Japan	Sasahara	2000
10	Deletion	1178	C del		fs/X	Neg 0	Ab503	3	Japan	Imai	2004
10	Deletion	1184	C del	384	fs/444X	Neg	11G8B7	4	Italy	Facchetti	1998
10	Deletion	1234	10bp del	399	fs/Ter	ND		WAS	Canada	Greer	1996
10	Deletion	1295	11bp del	421	fs/Ter	ND		WAS	HongKong	Chan	1999
10	Deletion	1301	5bp del	423	fs/Ter	Neg	Ab503	5	USA	Zhu	1995
10	Deletion	1303	18bp del	423	del AWPGGG	ND		4	Denmark	Schwartz	1996
10	Deletion	1305	G del	424	fs/Ter	pos	W-485, W-224	3A	USA	Kwan/PNAS	1995
10	Deletion	1305	G del	424	fs/Ter	pos	W-485	WAS	USA	Shcherbina	1999
10	Deletion	1305	G del	424	fs/Ter	pos	B4	2I	USA	Falet	2002
10	Deletion	1319	G del	430	fs/444X	ND		5	USA	Lemahieu	1999
10	Deletion	1380	8bp del	449	fs/Ter	ND		WAS	Argentina	El-Hakeh	2002
10	Deletion	1030-1035	G del	333	fs/Ter	ND		WAS	Argentina	El-Hakeh	2002
10	Deletion	1047,1048	GT del	337	fs/Ter	ND		WAS	Canada	Greer	1996
10	Deletion	1088-1092	C del	351	fs/Ter444	ND		mild WAS	Argentina	El-Hakeh	2002
11	Deletion	1482	C del	483	fs/extend polyA	Neg	JD1	WAS	UK	MacCarthy-Morrogh	1999
11	Deletion	1373-1540	267bp del		del ex11,12	ND		WAS	UK	Thompson	1999
12	Deletion	1519	T del		fs/extend polyA	ND		WAS	Italy	Shcherbina	1999
12	Deletion	1543	AGTG del		extend polyA	ND		4	USA	Kolluri	1995
1-6	Deletion	-int 6	15.8kb del			Neg	W-485	WAS	USA	Lutskiy/HumGen	2002
10	Deletion,Missense	1110,1109	C del/C-A	444/359	fs/Ter/Pro-Thr	Neg	Ab503	4	USA	Zhu2	1997
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
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
2	Missense	168	C-T	45	Thr-Met	pos	W-485, W-224	mild WAS	USA	Kwan/PNAS	1995
2	Missense	168	C-T	45	Thr-Met	ND		1	France	de Saint Basile	1996
2	Missense	168	C-T	45	Thr-Met	ND		1	Canada	Greer	1996
2	Missense	168	C-T	45	Thr-Met	ND		2E	Denmark	Schwartz	1996
2	Missense	168	C-T	45	Thr-Met	ND		2E	Japan	Ariga/97PedRes	1997
2	Missense	168	C-T	45	Thr-Met	pos	Ab503	2	USA	Zhu2	1997
2	Missense	168	C-T	45	Thr-Met	pos	Ab503	2	USA	Zhu2	1997
2	Missense	168	C-T	45	Thr-Met	pos	W-485	mild WAS	USA	Shcherbina	1999
2	Missense	168	C-T	45	Thr-Met	pos	W-485	mild WAS	USA	Shcherbina	1999
2	Missense	168	C-T	45	Thr-Met	ND		mild WAS	UK	Thompson	1999
2	Missense	168	C-T	45	Thr-Met	ND		mild WAS	UK	Thompson	1999
2	Missense	168	C-T	45	Thr-Met	ND		XLT	UK	Thompson	1999
2	Missense	168	C-T	45	Thr-Met	ND		XLT	UK	Thompson	1999
2	Missense	168	C-T	45	Thr-Met	pos	Ab503	2	Japan	Itoh	2000
2	Missense	168	C-T	45	Thr-Met	ND		XLT	Syria	Ho	2001
2	Missense	168	C-T	45	Thr-Met	Pos 1	Ab503	2	Japan	Imai	2004
2	Missense	168	C-T	45	Thr-Met	Pos 1	Ab503	1	Japan	Imai	2004
2	Missense	168	C-T	45	Thr-Met	Pos 1	Ab503	5A	Japan	Imai	2004
2	Missense	171	T-C	46	Leu-Pro	ND		2I	Germany	Schindelhauer	1996
2	Missense	174	C-A	47	Ala-Asp	pos	Ab503	2	USA	Zhu	1995
2	Missense	177	C-T	48	Thr-Ile	pos	Ab503	2	USA	Derry/HMG	1995
2	Missense	190	G-C	52	Gln-His	ND		XLT	Argentina	El-Hakeh	2002
2	Missense	201	C-T	56	Ala-Val	ND		1	Italy	Villa	1995
2	Missense	201	C-G	56	Ala-Val	ND		1	Italy	Wengler	1995
2	Missense	201	C-T	56	Ala-Val	ND		1	Canada	Greer	1996
2	Missense	201	C-T	56	Ala-Val	ND		2E	Denmark	Schwartz	1996
2	Missense	201	C-T	56	Ala-Val	pos	Ab503	2	USA	Zhu2	1997
2	Missense	201	C-T	56	Ala-Val	pos	11G8B7	1	Italy	Allavena	2001
2	Missense	201	C-T	56	Ala-Val	Pos 2	Ab503	1	Japan	Imai	2004
2	Missense	207	C-T	58	Pro-Leu	ND		WAS	USA	Kwan/PNAS	1995
2	Missense	207	C-G	58	Pro-Arg	pos	3F3-A5	IXLT	Italy	Notarangelo/2002	2002
2	Missense	224	T-C	64	Trp-Arg	ND		3	Chile	Fillat/2000	2000
2	Missense	242	G-T	70	Gly-Try	ND		WAS	Argentina	El-Hakeh	2002
2	Missense	251	T-C	73	Cys-Arg	Neg	(143)	4	USA	Lemahieu	1999
2	Missense	252	G-A	73	Cys-Tyr	Neg	5A5	WAS	USA	Orange	2002
2	Missense	252	G-A	73	Cys-Tyr	Neg	5A5	WAS	USA	Orange	2002
2	Missense	257	G-A	75	Val-Met	pos	Ab503	2	USA	Derry/HMG	1995
2	Missense	257	G-A	75	Val-Met	ND		1	USA	Derry/HMG	1995
2	Missense	257	G-A	75	Val-Met	ND		1	USA	Kolluri	1995
2	Missense	257	G-A	75	Val-Met	pos	W-485, W-224	mild WAS	USA	Kwan/HMG	1995
2	Missense	257	G-A	75	Val-Met	ND		1	France	de Saint Basile	1996
2	Missense	257	G-A	75	Val-Met	ND		2	USA	Lemahieu	1999
2	Missense	257	G-A	75	Val-Met	Neg	JD1	WAS	UK	MacCarthy-Morrogh	1999
2	Missense	257	G-A	75	Val-Met	Neg	JD1	WAS	UK	MacCarthy-Morrogh	1999
2	Missense	257	G-A	75	Val-Met	pos	W-485	mild WAS	USA	Shcherbina	1999
2	Missense	257	G-A	75	Val-Met	ND		WAS	UK	Thompson	1999
2	Missense	257	G-A	75	Val-Met	ND		XLT	UK	Thompson	1999
2	Missense	257	G-A	75	Val-Met	ND		2	Spain	Fillat/2001	2001
2	Missense	257	G-A	75	Val-Met	ND		2	Spain	Fillat/2001	2001
2	Missense	257	G-A	75	Val-Met	ND		1	Argentina	El-Hakeh	2002
2	Missense	257	G-A	75	Val-Met	ND	Ab503	2	Japan	Imai	2004
2	Missense	257	G-A	75	Val-Met	ND	Ab503	1	Japan	Imai	2004
2	Missense	264	A-G	77	Gln-Gly	pos	11G8B7	2	Italy	Allavena	2001
2	Missense	278	T-C	82	Ser-Pro	ND		3	USA	Kolluri	1995
2	Missense	279	C-T	82	Ser-Phe	ND		4	USA	Kwan/HMG	1995
2	Missense	282	A-G	83	Tyr-Cys	pos	(143)	1	USA	Lemahieu	1999
2	Missense	284	T-C	84	Phe-Leu	Neg	JD1	WAS	UK	MacCarthy-Morrogh	1999
2	Missense	284	T-C	84	Phe-Leu	Neg	JD1	WAS	UK	MacCarthy-Morrogh	1999
2	Missense	284	T-C	84	Phe-Leu	ND		mild WAS	UK	Thompson	1999
2	Missense	284	T-C	84	Phe-Leu	Neg	JD1	1	UK	Qasim	2001
2	Missense	288	T-C	85	Ile-Thr	ND		3	Japan	Ariga/JI	2001
2	Missense	290	C-T	86	Arg-Cys	ND		1	USA	Kolluri	1995
2	Missense	290	C-T	86	Arg-Cys	ND		4	USA	Kolluri	1995
2	Missense	290	C-T	86	Arg-Cys	ND		4	USA	Kolluri	1995
2	Missense	290	C-T	86	Arg-Cys	pos	W-485, W-224	1	USA	Kwan/HMG	1995
2	Missense	290	C-T	86	Arg-Cys	pos	Ab503	1	USA	Kwan/HMG	1995
2	Missense	290	C-T	86	Arg-Cys	ND		1	USA	Kwan/HMG	1995
2	Missense	290	C-T	86	Arg-Cys	ND		1	USA	Zhu	1995
2	Missense	290	C-T	86	Arg-Cys	pos	Ab503	2	USA	Zhu	1995
2	Missense	290	C-T	86	Arg-Cys	ND		1	Canada	Greer	1996
2	Missense	290	C-T	86	Arg-Cys	ND		2E	Germany	Schindelhauer	1996
2	Missense	290	C-T	86	Arg-Cys	ND		1	Denmark	Schwartz	1996
2	Missense	290	C-T	86	Arg-Cys	ND		3	USA	Lemahieu	1999
2	Missense	290	C-T	86	Arg-Cys	ND		XLT	UK	Thompson	1999
2	Missense	290	C-T	86	Arg-Cys	ND		3	Turky	Duzova	2001
2	Missense	290	C-T	86	Arg-Cys	ND		4	Spain	Fillat/2001	2001
2	Missense	290	C-T	86	Arg-Cys	ND		XLT	Argentina	El-Hakeh	2002
2	Missense	290	C-T	86	Arg-Cys	Pos 2	Ab503	1	Japan	Imai	2004
2	Missense	290	C-T	86	Arg-Cys	Pos 1	Ab503	5A	Japan	Imai	2004
2	Missense	290	C-T	86	Arg-Cys	Pos 1	Ab503	2	Japan	Imai	2004
2	Missense	291	G-A	86	Arg-His	ND		2I	USA	Derry/Cell	1994
2	Missense	291	G-T	86	Arg-Leu	ND		4	USA	Derry/HMG	1995
2	Missense	291	G-A	86	Arg-His	ND		3	USA	Derry/HMG	1995
2	Missense	291	G-A	86	Arg-His	ND		4	USA	Kolluri	1995
2	Missense	291	G-A	86	Arg-His	ND		WAS	Canada	Greer	1996
2	Missense	291	G-A	86	Arg-His	ND		2I	Canada	Greer	1996
2	Missense	291	G-A	86	Arg-His	ND		3	Germany	Schindelhauer	1996
2	Missense	291	G-A	86	Arg-His	ND		3	Germany	Schindelhauer	1996
2	Missense	291	G-C	86	Arg-Pro	ND		3	Germany	Schindelhauer	1996
2	Missense	291	G-A	86	Arg-His	pos	Ab503	2	USA	Zhu2	1997
2	Missense	291	G-A	86	Arg-His	pos	W-485	mild WAS	USA	Shcherbina	1999
2	Missense	291	G-A	86	Arg-His	pos	W-485	mild WAS	USA	Shcherbina	1999
2	Missense	291	G-A	86	Arg-His	ND		WAS	UK	Thompson	1999
2	Missense	291	G-A	86	Arg-His	ND		mild WAS	UK	Thompson	1999
2	Missense	291	G-A	86	Arg-His	ND		mild WAS	UK	Thompson	1999
2	Missense	291	G-A	86	Arg-His	ND		3	Spain	Fillat/2001	2001
2	Missense	291	G-A	86	Arg-His	ND		3	Spain	Fillat/2001	2001
2	Missense	291	G-T	86	Arg-Leu	ND		4	Spain	Fillat/2001	2001
2	Missense	291	G-A	86	Arg-His	pos	B4	1	USA	Falet	2002
2	Missense	291	G-A	86	Arg-His	Pos 1	Ab503	2	Japan	Imai	2004
2	Missense	291	G-A	86	Arg-His	NA	Ab503	3	Japan	Imai	2004
2	Missense	300	G-A	89	Gly-Asp	pos	JD1	mild WAS	UK	MacCarthy-Morrogh	1999
2	Missense	291, 1412	G-A, C-T	86, 460	Arg-His, Pro-Ser	Pos 1	Ab503	5A(4y)<2(2y)	Japan	Imai	2004
3	Missense	325	G-C	97	Trp-Cys	ND		2I	USA	Kolluri	1995
3	Missense	325	G-C	97	Trp-Cys	ND		4	USA	Kwan/HMG	1995
3	Missense	325	G-C	97	Try-Cys	ND		2I	Germany	Schindelhauer	1996
3	Missense	330	A-G	99	Gln-Arg	ND		1	Canada	Greer	1996
3	Missense	348	T-C	105	Leu-Pro	Neg	H-250	WAS	Italy	Dupre	2002
3	Missense	354	A-G	107	Tyr-Cys	pos	Ab503	2	USA	Zhu2	1997
3	Missense	354	A-G	107	Tyr-Cys	pos	3F3-A5	2>3>5M	Japan	Ariga/JI	2001
3	Missense	365	A-C	111	Thr-Pro	ND		WAS	UK	Thompson	1999
3	Missense	377	C-T	115	His-Tyr	ND		WAS	UK	Thompson	1999
3	Missense	390	G-A	119	Gly-Glu	ND		1	Canada	Greer	1996
4	Missense	405	C-A	124	Ala-Glu	ND		3	Chile	Fillat/2000	2000
4	Missense	407	G-A	125	Gly-Arg	Neg	Ab503	5	USA	Zhu	1995
4	Missense	407	G-C	125	Gly-Arg	ND		WAS	Canada	Greer	1996
4	Missense	415	C-G	128	Asn-Lys	Neg	5A5	3	Japan	Kawai	2002
4	Missense	416	T-C	128	Phe-Leu	ND		WAS	Canada	Greer	1996
4	Missense	417	T-C	128	Phe-Ser	ND		WAS	Canada	Greer	1996
4	Missense	417	T-C	128	Phe-Ser	ND		4	USA	Zhu2	1997
4	Missense	425	G-A	131	Glu-Lys	ND		1	Denmark	Schwartz	1996
4	Missense	431	G-A	133	Glu-Lys	ND		4	USA	Kolluri	1995
4	Missense	431	G-A	133	Glu-Lys	ND		WAS	USA	Kwan/PNAS	1995
4	Missense	431	G-A	133	Glu-Lys	ND		WAS	USA	Kwan/PNAS	1995
4	Missense	431	G-A	133	Glu-Lys	ND		WAS	Canada	Greer	1996
4	Missense	431	G-A	133	Glu-Lys	ND		5	USA	Lemahieu	1999
4	Missense	431	G-A	133	Glu-Lys	Neg	JD1	WAS	UK	MacCarthy-Morrogh	1999
4	Missense	431	G-A	133	Glu-Lys	ND		mild WAS	UK	Thompson	1999
4	Missense	431	G-A	133	Glu-Lys	ND		5	Italy	Allavena	2001
4	Missense	431	G-A	133	Glu-Lys	ND		4	Spain	Fillat/2001	2001
4	Missense	431	G-A	133	Glu-Lys	ND		4	Spain	Fillat/2001	2001
4	Missense	431	G-A	133	Glu-Lys	Neg	JD1	4	UK	Qasim	2001
4	Missense	431	G-A	133	Glu-Lys	ND		WAS	Argentina	El-Hakeh	2002
4	Missense	431	G-A	133	Glu-Lys	ND		WAS	USA	Orange	2002
4	Missense	434	G-A	134	Ala-Thr	ND		WAS	USA	Kwan/PNAS	1995
4	Missense	435	C-T	134	Ala-Val	pos	Ab503	4	USA	Zhu2	1997
4	Missense	447	G-C	138	Arg-Pro	ND		WAS	UK	Thompson	1999
4	Missense	447	G-C	138	Arg-Pro	pos	H-250	1	USA	Luthi	2002
4	Missense	447	G-C	138	Arg-Pro	pos	H-250	1	USA	Luthi	2002
4	Missense	425/290	G-A/C-T	131/86	Glu-Lys/Arg-Cys	pos	Ab503	5	USA	Derry/HMG	1995
4	Missense	425/290	G-A/C-T	131/86	Glu-Lys/Arg-Cys	pos	Ab503	4	USA	Derry/HMG	1995
4	Missense	425/431	G-A/G-A	131/133	Glu-Lys/Glu-Lys	Neg	Ab503	3	USA	Zhu2	1997
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
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
9	Missense	843	T-C	270	Leu-Pro	pos	3F3-A5	XLN	Belgium	Devriendt	2001
9	Missense	915	T-C	294	Ile-Thr	ND		XLN+MDS	UK(Zaire)	Ancliff	2001
9	Missense	953	A-G	307	Met-Val	pos	Ab503	2	USA	Kwan/HMG	1995
10	Missense	1050,1151	C-A/C-T	339/373	Ser-Tyr/Pro-Ser	ND		WAS	USA	Ochs(unpublished)	1997
11	Missense	1409	C-A	459	Pro-Ser	ND		3	Japan	Ariga/JI	2001
11	Missense	1460	A-G	476	Lys-Glu	ND		4	USA	Kolluri	1995
11	Missense	1464	G-A	477	Arg-Lys	ND		1	USA	Derry/HMG	1995
11	Missense	1464	G-A	477	Arg-Lys	ND		1	Spain	Fillat/2001	2001
11	Missense	1476	T-A	481	Ile-Arg	pos	3F3-A5	IXLT	Italy	Notarangelo/2002	2002
11	Missense	1487	G-A	485	Asp-Asn, skip ex11	ND		4	USA	Lemahieu	1999
11	Missense	1487	G-A	485	Asp-Asn, skip ex11	Neg	5A5	1	Japan	Kanegane	2000
11	Missense	1487	G-A	485	Asp-Asn	ND		3	Spain	Fillat/2001	2001
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
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
2	splicing defect	-1,int2	g-a		exon3 skipping	ND		2I	Japan	Ariga/96BBA	1996
2	splicing defect	+2,int2	t-c		splicing anomaly	ND		WAS	Argentina	El-Hakeh	2002
3	splicing defect	-2,int3	a-c	120	splicing defect	ND		WAS	Canada	Greer	1996
3	splicing defect	-1,int3	g-a		fs/Ter	Neg	Ab503	3	USA	Zhu2	1997
3	splicing defect	-1,int3	g-a	121	fs/201X, fs/251X	Neg 0	Ab503	5M	Japan	Imai	2004
3	splicing defect	+1,int3	g-c		exon3 skipping	ND		4	Germany	Schindelhauer	1996
3	splicing defect	+1,int3	g-a		exon3 skipping	Neg	W-485	4	USA	Remold-O'Donnel	1997
3	splicing defect	+1,int3	g-a	92-120	29 aa del	Pos 1	Ab503	3	Japan	Imai	2004
3	splicing defect	+2,int3	t ins		exon3 skipping	Neg	W-485	5	USA	Remold-O'Donnel	1997
3	splicing defect	+2,int3	t ins		exon3 skipping	Neg	W-485	WAS	USA	Shcherbina	1999
3	splicing defect	393	7bp del		splicing defect	ND		WAS	Argentina	El-Hakeh	2002
3	splicing defect	394	G-T		fs/X	Neg	JD1	4	UK	Qasim	2001
3	splicing defect	+1-8,int4, -3,int3	del 8bp, G ins		fs/Stop	ND	Ab503	1	Japan	Imai	2004
4	splicing defect	-4,int4	acag del	154	splicing defect	ND		WAS	Canada	Greer	1996
5	splicing defect	539	G-T	155-169	14aa del, Asn-STOP	Pos tr	Ab503	2	Japan	Imai	2004
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
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
8	splicing defect	-2,int8	a-g		splicing defect	ND		4	USA	Kwan/HMG	1995
8	splicing defect	+1,int8	g-a		exon9 skipping	ND		4	Italy	Wengler	1995
8	splicing defect	+1,int8	g-a		exon9 skipping	ND		3	Germany	Schindelhauer	1996
8	splicing defect	+1,int8	g-a		exon9 skipping	ND		2E	Denmark	Schwartz	1996
8	splicing defect	+1,int8	g-c		splicing defect	ND		WAS	Argentina	El-Hakeh	2002
8	splicing defect	+1,int8	g-c	246	fs/246X	Neg 0	Ab503	5A	Japan	Imai	2004
8	splicing defect	+1,int8	g-a	259	fs/Ter	Neg	JD1	WAS	UK	MacCarthy-Morrogh	1999
8	splicing defect	+1,int8	g-a	259	fs/Ter	Neg	JD1	WAS	UK	MacCarthy-Morrogh	1999
8	splicing defect	+1,int8	gtga del	259	fs/Ter	ND		WAS	Netherlands	Brooimans	2000
8	splicing defect	+1,int8	gtga del	259	fs/Ter	Neg	5A5	3	Japan	Kawai	2002
8	splicing defect	+1,int8	gtga del	259	fs/Ter	Neg	5A5	3	Japan	Kawai	2002
8	splicing defect	+3,int8	t ins		splicing defect	ND		4	Italy	Wengler	1995
8	splicing defect	+3,int8	t ins		splicing defect	pos	11G8B7	3	Italy	Allavena	2001
8	splicing defect	+1-4,int8	gtga del			Neg 0	Ab503	4	Japan	Imai	2004
8	splicing defect	+1-4,int8	gtga del			Neg 0	Ab503	5M	Japan	Imai	2004
8	splicing defect	+1-4,int8	gtga del			Neg 0	Ab503	4	Japan	Imai	2004
9	splicing defect	+2,int9	t-c		splicing defect	ND		4	USA	Kwan/HMG	1995
9	splicing defect	+2,int9	t-a		splicing defect	ND		3	USA	Lemahieu	1999
9	splicing defect	+2-5,int9	4bp del		splicing defect	Neg	H-250	WAS	Italy	Dupre	2002
10	splicing defect	-3,int10	c del		splicing defect	ND		4	Italy	Wengler	1995
10	splicing defect	-2,int10	a-t		splicing defect	ND		4	Italy	Wengler	1995
10	splicing defect	ND	ND			Pos 1 1	Ab503	1	Japan	Imai	2004
10	splicing defect	+2,int10	t-c	484	splicing defect	ND		WAS	Canada	Greer	1996
11	splicing defect	ND	ins118bp		fs/X	Pos 1	Ab503	2(5A)	Japan	Imai	2004
11	splicing defect	ND	ins118bp		fs/X	Pos 1	Ab503	2(5A)	Japan	Imai	2004
11	splicing defect	ND	ins118bp		fs/X	Pos 1	Ab503	3	Japan	Imai	2004
11	splicing defect	+?,int11	g del		splicing defect	ND		3	Japan	Ariga/JI	2001
11	splicing defect	+2,int11	t-c skipping exon 11(115bp)		fs/Ter	ND		4*	USA	Zhu	1995