Resource of Asian Primary Immunodeficiency Diseases

RAPID Original

BTK

SI.No	Mutation type	Mutation change	Mutation effects	Expt Name	PubMed
1	Substitutions	Genomic: g.33021G>A CDS: c.1898G>A AnimoAcid: p.Cys633Tyr	Substitutions	SSCP, Direct sequencing, PCR based assay	Hashimoto S et al., 1996
2	Substitutions	Genomic: g.30168G>C CDS: c.1561G>C AnimoAcid: p.Asp521His	Substitutions	SSCP, Direct sequencing, PCR based assay	Hashimoto S et al., 1996
3	Substitutions	Genomic: g.10975A>G CDS: c.35A>G AnimoAcid: p.Lys12Arg	Substitutions	SSCP, Direct sequencing, PCR based assay	Hashimoto S et al., 1996
4	Substitutions	Genomic: g.24050C>T CDS: c.586C>T AnimoAcid: p.Gln196X	Substitutions	SSCP, Direct sequencing	Hashimoto S et al., 1996
5	Substitutions	Genomic: g.32289C>T CDS: c.1684C>T AnimoAcid: p.Arg562Trp	Substitutions	Direct sequencing	Noordzij JG et al., 2002
6	Substitutions	Genomic: g.32360G>A CDS: c.1750+5G>A AnimoAcid:	Substitutions	Direct sequencing	Duriez B et al., 1994
7	Substitutions	Genomic: g.134G>A CDS: AnimoAcid:	Substitutions	Southern blotting, SSCP	Conley ME et al., 1998
8	Substitutions	Genomic: g.199T>G CDS: c.1-10772T>G AnimoAcid:	Substitutions	SSCP, Southern blotting	Conley ME et al., 1998
9	Substitutions	Genomic: g.10941A>G CDS: c.1A>G AnimoAcid: p.Met1?	Substitutions	SSCP, Southern blotting	Conley ME et al., 1998
10	Substitutions	Genomic: g.10977C>T CDS: c.37C>T AnimoAcid: p.Arg13X	Substitutions	SSCP, Southern blotting, PCR	Conley ME et al., 1998
11	Substitutions	Genomic: g.10983C>T CDS: c.43C>T AnimoAcid: p.Gln15X	Substitutions	SSCP, Southern blotting, PCR	Conley ME et al., 1998
12	Substitutions	Genomic: g.11002C>A CDS: c.62C>A AnimoAcid: p.Ser21X	Substitutions	SSCP, Southern blotting, PCR	Conley ME et al., 1998
13	Substitutions	Genomic: g.11022C>T CDS: c.82C>T AnimoAcid: p.Arg28Cys	Substitutions	SSCP, Southern blotting, PCR	Conley ME et al., 1998
14	Substitutions	Genomic: g.11059A>G CDS: c.119A>G AnimoAcid: p.Tyr40Cys	Substitutions	SSCP, Southern blotting, PCR	Conley ME et al., 1998
15	Deletion	Genomic: g.11633delA CDS: c.184delA AnimoAcid: p.Thr62fs	Deletion	SSCP, Southern blotting, PCR	Conley ME et al., 1998
16	Deletion	Genomic: g.11675_11678delGAAA CDS: c.226_229delGAAA AnimoAcid: p.Glu76fs	Deletion	SSCP, Southern blotting, PCR	Conley ME et al., 1998
17	Deletion	Genomic: g.11679_11682delGACA CDS: c.230_233delGACA AnimoAcid: p.Arg77fs	Deletion	SSCP, Southern blotting, PCR	Conley ME et al., 1998
18	Substitutions	Genomic: g.16172C>A CDS: c.336C>A AnimoAcid: p.Tyr112X	Substitutions	SSCP, Southern blotting, PCR	Conley ME et al., 1998
19	Substitutions	Genomic: g.16174T>A CDS: c.338T>A AnimoAcid: p.Val113Asp	Substitutions	SSCP, Southern blotting, PCR	Conley ME et al., 1998
20	Deletion	Genomic: g.16177_16179delTCT CDS: c.341_343delTCT AnimoAcid: p.Phe114fs	Deletion	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
21	Substitutions	Genomic: g.16180C>T CDS: c.344C>T AnimoAcid: p.Ser115Phe	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
22	Substitutions	Genomic: g.16185A>C CDS: c.349A>C AnimoAcid: p.Thr117Pro	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
23	Substitutions	Genomic: g.23579C>A CDS: c.435C>A AnimoAcid: p.Cys145X	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
24	Substitutions	Genomic: g.23640C>T CDS: c.496C>T AnimoAcid: p.Gln166X	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
25	Substitutions	Genomic: g.23984G>A CDS: c.521-1G>A AnimoAcid:	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
26	Deletion	Genomic: g.24025_24028delTCTT CDS: c.561_564delTCTT AnimoAcid: p.Leu188ProfsX10	Deletion	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
27	Deletion-Insertion	Genomic: g.25489_25491delinsTGGTG CDS: c.608_610delinsTGGTG AnimoAcid: p.Pro203fs	Deletion-Insertion	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
28	Deletion	Genomic: g.25596delG CDS: c.715delG AnimoAcid: p.Asp239fs	Deletion	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
29	Substitutions	Genomic: g.25612T>A CDS: c.731T>A AnimoAcid: p.Leu244X	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
30	Substitutions	Genomic: g.25636G>A CDS: c.755G>A AnimoAcid: p.Trp252X	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
31	Substitutions	Genomic: g.25644C>T CDS: c.763C>T AnimoAcid: p.Arg255X	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
32	Substitutions	Genomic: g.25659T>C CDS: c.776+2T>C AnimoAcid:	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
33	Deletion-Insertion	Genomic: g.26079delGinsTTA CDS: c.781delGinsTTA AnimoAcid: p.Glu261LeufsX17	Deletion-Insertion	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
34	Substitutions	Genomic: g.26901G>A CDS: c.863G>A AnimoAcid: p.Arg288Gln	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
35	Deletion	Genomic: g.31545_31548delTTTG CDS: c.1581_1584delTTTG AnimoAcid: p.Cys527TrpfsX2	Deletion	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
36	Deletion-Insertion	Genomic: g.27519delinsAGGGGAAAACT CDS: c.895-10delinsAGGGGAAAACT AnimoAcid:	Deletion-Insertion	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
37	Deletion	Genomic: g.27527delA CDS: c.895-2delA AnimoAcid:	Deletion	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
38	Substitutions	Genomic: g.27527A>C CDS: c.895-2A>C AnimoAcid:	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
39	Substitutions	Genomic: g.27528G>A CDS: c.895-1G>A AnimoAcid:	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
40	Substitutions	Genomic: g.27539G>A CDS: c.905G>A AnimoAcid: p.Gly302Glu	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
41	Substitutions	Genomic: g.27554G>C CDS: c.920G>C AnimoAcid: p.Arg307Thr	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
42	Substitutions	Genomic: g.27579T>G CDS: c.945T>G AnimoAcid: p.Tyr315X	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
43	Deletion	Genomic: g.27790_27802delACCCTCAAGGGGT CDS: c.977_989delACCCTCAAGGGGT AnimoAcid: p.Asp326fs	Deletion	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
44	Substitutions	Genomic: g.27855G>T CDS: c.1042G>T AnimoAcid: p.Glu348X	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
45	Substitutions	Genomic: g.27895A>G CDS: c.1082A>G AnimoAcid: p.Tyr361Cys	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
46	Substitutions	Genomic: g.28664T>G CDS: c.1125T>G AnimoAcid: p.Tyr375X	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
47	Deletion	Genomic: g.29302_29304delTTC CDS: c.1210_1212delTTC AnimoAcid: p.Phe404del	Deletion	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
48	Substitutions	Genomic: g.31596G>T CDS: c.1631+1G>T AnimoAcid:	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
49	Substitutions	Genomic: g.29381A>G CDS: c.1289A>G AnimoAcid: p.Lys430Arg	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
50	Substitutions	Genomic: g.29427A>C CDS: c.1335A>C AnimoAcid: p.Glu445Asp	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
51	Substitutions	Genomic: g.29986T>A CDS: c.1379T>A AnimoAcid: p.Leu460X	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
52	Substitutions	Genomic: g.30134G>A CDS: c.1527G>A AnimoAcid: p.Met509Ile	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
53	Substitutions	Genomic: g.30166G>A CDS: c.1559G>A AnimoAcid: p.Arg520Gln	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
54	Substitutions	Genomic: g.30165C>T CDS: c.1558C>T AnimoAcid: p.Arg520X	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
55	Substitutions	Genomic: g.31537C>G CDS: c.1573C>G AnimoAcid: p.Arg525Gly	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
56	Substitutions	Genomic: g.31567G>T CDS: c.1603G>T AnimoAcid: p.Val535Phe	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
57	Substitutions	Genomic: g.31589T>C CDS: c.1625T>C AnimoAcid: p.Leu542Pro	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
58	Substitutions	Genomic: g.32289C>T CDS: c.1684C>T AnimoAcid: p.Arg562Trp	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
59	Substitutions	Genomic: g.32293G>T CDS: c.1688G>T AnimoAcid: p.Trp563Leu	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
60	Substitutions	Genomic: g.32346T>C CDS: c.1741T>C AnimoAcid: p.Trp581Arg	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
61	Substitutions	Genomic: g.32350C>T CDS: c.1745C>T AnimoAcid: p.Ala582Val	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
62	Deletion	Genomic: g.31519_31522delTTTG CDS: c.1567-12_1567-9delTTTG AnimoAcid:	Deletion	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
63	Substitutions	Genomic: g.32886G>A CDS: c.1763G>A AnimoAcid: p.Trp588X	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
64	Substitutions	Genomic: g.32890A>T CDS: c.1767A>T AnimoAcid: p.Glu589Asp	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1995
65	Substitutions	Genomic: g.32896C>A CDS: c.1773C>A AnimoAcid: p.Tyr591X	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
66	Substitutions	Genomic: g.32904G>A CDS: c.1781G>A AnimoAcid: p.Gly594Glu	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
67	Substitutions	Genomic: g.32987G>C CDS: c.1864G>C AnimoAcid: p.Ala622Pro	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
68	Substitutions	Genomic: g.33012T>A CDS: c.1889T>A AnimoAcid: p.Met630Lys	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
69	Substitutions	Genomic: g.36315T>C CDS: c.1955T>C AnimoAcid: p.Leu652Pro	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 1998
70	Substitutions	Genomic: g.29269G>A CDS: c.1178-1G>A AnimoAcid:	Substitutions	Direct sequencing	Stewart DM et al., 2001
71	Substitutions	Genomic: g.29367C>A CDS: c.1275C>A AnimoAcid: p.Tyr425X	Substitutions	SSCP, Direct sequencing, PCR based assay	Hashimoto S et al., 1996
72	Deletion	Genomic: g.24000delG CDS: c.536delG AnimoAcid: p.Ser179fs	Deletion	Direct sequencing	Noordzij JG et al., 2002
73	Deletion	Genomic: g.11052_11053delTC CDS: c.112_113delTC AnimoAcid: p.Ser38fs	Deletion	Direct sequencing	Noordzij JG et al., 2002
74	Substitutions	Genomic: g.30134G>A CDS: c.1527G>A AnimoAcid: p.Met509Ile	Substitutions	Direct sequencing	Noordzij JG et al., 2002
75	Substitutions	Genomic: g.30062C>A CDS: c.1455C>A AnimoAcid: p.Tyr485X	Substitutions	Direct sequencing	Noordzij JG et al., 2002
76	Substitutions	Genomic: g.27898A>G CDS: c.1085A>G AnimoAcid: p.His362Arg	Substitutions	Direct sequencing	Mattsson PT et al., 2000
77	Substitutions	Genomic: g.29367C>A CDS: c.1275C>A AnimoAcid: p.Tyr425X	Substitutions	Direct sequencing	Noordzij JG et al., 2002
78	Substitutions	Genomic: g.32883T>C CDS: c.1760T>C AnimoAcid: p.Met587Thr	Substitutions	Direct sequencing	Noordzij JG et al., 2002
79	Substitutions	Genomic: g.32347G>C CDS: c.1742G>C AnimoAcid: p.Trp581Ser	Substitutions	Direct sequencing	Liu AJ et al., 2006
80	Substitutions	Genomic: g.11023G>A CDS: c.83G>A AnimoAcid: p.Arg28His	Substitutions	Direct sequencing	Nonoyama S et al., 1998
81	Substitutions	Genomic: g.11037A>C CDS: c.97A>C AnimoAcid: p.Thr33Pro	Substitutions	Direct sequencing	Nonoyama S et al., 1998
82	Substitutions	Genomic: g.29315T>C CDS: c.1223T>C AnimoAcid: p.Leu408Pro	Substitutions	Direct sequencing	Nonoyama S et al., 1998
83	Substitutions	Genomic: g.31538G>A CDS: c.1574G>A AnimoAcid: p.Arg525Gln	Substitutions	Direct sequencing	Nonoyama S et al., 1998
84	Deletion	Genomic: g.31519_31522delTTTG CDS: c.1567-12delTTTG AnimoAcid:	Deletion	Direct sequencing	Aghamohammadi A et al., 2006
85	Substitutions	Genomic: g.11086G>C CDS: c.141+5G>C AnimoAcid:	Substitutions	Direct sequencing	Aghamohammadi A et al., 2006
86	Substitutions	Genomic: g.32886G>A CDS: c.1763G>A AnimoAcid: p.Trp588X	Substitutions	SSCP, Direct sequencing	Aghamohammadi A et al., 2006
87	Deletion	Genomic: g.11664delA CDS: c.215delA AnimoAcid: p.Asn72fs	Deletion	SSCP, Direct sequencing	Aghamohammadi A et al., 2006
88	Substitutions	Genomic: g.11022C>T CDS: c.82C>T AnimoAcid: p.Arg28Cys	Substitutions	SSCP, Direct sequencing	Aghamohammadi A et al., 2006
89	Substitutions	Genomic: g.25644C>T CDS: c.763C>T AnimoAcid: p.Arg255X	Substitutions	SSCP, Direct sequencing	Aghamohammadi A et al., 2006
90	Substitutions	Genomic: g.23605G>A CDS: c.461G>A AnimoAcid: p.Cys154Tyr	Substitutions	SSCP	Jo EK et al., 2003
91	Substitutions	Genomic: g.30093C>T CDS: c.1486C>T AnimoAcid: p.Gln496X	Substitutions	SSCP, Direct sequencing	Aghamohammadi A et al., 2006
92	Substitutions	Genomic: g.32256T>C CDS: c.1651T>C AnimoAcid: p.Tyr551His	Substitutions	SSCP, Direct sequencing	Aghamohammadi A et al., 2006
93	Substitutions	Genomic: g.29992G>A CDS: c.1385G>A AnimoAcid: p.Gly462Asp	Substitutions	SSCP	Jo EK et al., 2003
94	Substitutions	Genomic: g.27916G>A CDS: c.1102+1G>A AnimoAcid:	Substitutions	Direct sequencing	Aghamohammadi A et al., 2006
95	Deletion	Genomic: g.29305delT CDS: c.1213delT AnimoAcid: p.Leu405fs	Deletion	SSCP, Direct sequencing	Aghamohammadi A et al., 2006
96	Deletion	Genomic: g.29311_29313delGAG CDS: c.1219_1221delGAG AnimoAcid: p.Glu407del	Deletion	SSCP, Direct sequencing	Aghamohammadi A et al., 2006
97	Substitutions	Genomic: g.23599A>G CDS: c.455A>G AnimoAcid: p.Tyr152Cys	Substitutions	SSCP, Direct sequencing	Aghamohammadi A et al., 2006
98	Substitutions	Genomic: g.29956G>A CDS: c.1350-1G>A AnimoAcid:	Substitutions	Direct sequencing	Aghamohammadi A et al., 2006
99	Substitutions	Genomic: g.32969C>T CDS: c.1846C>T AnimoAcid: p.Leu616Phe	Substitutions	SSCP, Direct sequencing	Aghamohammadi A et al., 2006
100	Substitutions	Genomic: g.32966C>A CDS: c.1843C>A AnimoAcid: p.Arg615Ser	Substitutions	SSCP, Direct sequencing	Aghamohammadi A et al., 2006
101	Substitutions	Genomic: g.11691T>C CDS: c.240+2T>C AnimoAcid:	Substitutions	Direct sequencing	Aghamohammadi A et al., 2006
102	Substitutions	Genomic: g.29957G>A CDS: c.1350G>A AnimoAcid: p.Met450Ile	Substitutions	SSCP, Direct sequencing	Aghamohammadi A et al., 2006
103	Substitutions	Genomic: g.10989A>G CDS: c.49A>G AnimoAcid: p.Lys17Glu	Substitutions	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
104	Substitutions	Genomic: g.11035T>G CDS: c.95T>G AnimoAcid: p.Leu32Trp	Substitutions	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
105	Substitutions	Genomic: g.11057C>A CDS: c.117C>A AnimoAcid: p.Tyr39X	Substitutions	SSCP, Direct sequencing	Fiorini M et al., 2004
106	Substitutions	Genomic: g.11083T>G CDS: c.141+2T>G AnimoAcid:	Substitutions	Direct sequencing	Fiorini M et al., 2004
107	Deletion	Genomic: g.11610delG CDS: c.161delG AnimoAcid: p.Gly54fs	Deletion	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
108	Deletion	Genomic: g.11647_11648delAG CDS: c.198_199delAG AnimoAcid: p.Val67fs	Deletion	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
109	Substitutions	Genomic: g.11681C>T CDS: c.232C>T AnimoAcid: p.Gln78X	Substitutions	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
110	Deletion	Genomic: g.14552delA CDS: c.269delA AnimoAcid: p.Glu90fs	Deletion	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
111	Substitutions	Genomic: g.16170T>C CDS: c.334T>C AnimoAcid: p.Tyr112His	Substitutions	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
112	Substitutions	Genomic: g.16208G>T CDS: c.372G>T AnimoAcid: p.Trp124Cys	Substitutions	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
113	Substitutions	Genomic: g.23604T>G CDS: c.460T>G AnimoAcid: p.Cys154Gly	Substitutions	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
114	Deletion	Genomic: g.25621delG CDS: c.740delG AnimoAcid: p.Ser247fs	Deletion	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
115	Substitutions	Genomic: g.25644C>T CDS: c.763C>T AnimoAcid: p.Arg255X	Substitutions	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
116	Substitutions	Genomic: g.25659T>G CDS: c.776+2T>G AnimoAcid:	Substitutions	Direct sequencing, PCR based assay	Fiorini M et al., 2004
117	Substitutions	Genomic: g.26900C>T CDS: c.862C>T AnimoAcid: p.Arg288Trp	Substitutions	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
118	Substitutions	Genomic: g.26901G>A CDS: c.863G>A AnimoAcid: p.Arg288Gln	Substitutions	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
119	Substitutions	Genomic: g.27539G>A CDS: c.905G>A AnimoAcid: p.Gly302Glu	Substitutions	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
120	Deletion	Genomic: g.27556_27557delGA CDS: c.922_923delGA AnimoAcid: p.Asp308fs	Deletion	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
121	Substitutions	Genomic: g.27795C>T CDS: c.982C>T AnimoAcid: p.Gln328X	Substitutions	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
122	Substitutions	Genomic: g.27885C>T CDS: c.1072C>T AnimoAcid: p.Leu358Phe	Substitutions	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
123	Insertion	Genomic: g.27901_27902insA CDS: c.1088_1089insA AnimoAcid: p.Gln363fs	Insertion	SSCP, Direct sequencing	Fiorini M et al., 2004
124	Substitutions	Genomic: g.27916G>A CDS: c.1102+1G>A AnimoAcid:	Substitutions	Direct sequencing, PCR based assay	Fiorini M et al., 2004
125	Deletion	Genomic: g.27916_27926delGTGAGTACCAG CDS: c.1102+1_1102+11delGTGAGTACCAG AnimoAcid:	Deletion	Direct sequencing, PCR based assay, SSCP	Fiorini M et al., 2004
126	Substitutions	Genomic: g.28644C>T CDS: c.1105C>T AnimoAcid: p.Leu369Phe	Substitutions	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
127	Substitutions	Genomic: g.29446G>A CDS: c.1349+5G>A AnimoAcid:	Substitutions	Direct sequencing, PCR based assay, SSCP	Fiorini M et al., 2004
128	Deletion	Genomic: g.29990_29991delTG CDS: c.1383_1384delTG AnimoAcid: p.Tyr461X	Deletion	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
129	Substitutions	Genomic: g.30165C>T CDS: c.1558C>T AnimoAcid: p.Arg520X	Substitutions	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
130	Substitutions	Genomic: g.30166G>A CDS: c.1559G>A AnimoAcid: p.Arg520Gln	Substitutions	SSCP, Direct sequencing, PCR based assay, SSCP	Fiorini M et al., 2004
131	Substitutions	Genomic: g.30174G>A CDS: c.1566+1G>A AnimoAcid:	Substitutions	Direct sequencing, PCR based assay, SSCP	Fiorini M et al., 2004
132	Substitutions	Genomic: g.30174G>T CDS: c.1566+1G>T AnimoAcid:	Substitutions	PCR based assay, SSCP	Fiorini M et al., 2004
133	Substitutions	Genomic: g.31538G>C CDS: c.1574G>C AnimoAcid: p.Arg525Pro	Substitutions	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
134	Substitutions	Genomic: g.31586G>A CDS: c.1622G>A AnimoAcid: p.Gly541Asp	Substitutions	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
135	Substitutions	Genomic: g.31600G>A CDS: c.1631+5G>A AnimoAcid:	Substitutions	Direct sequencing, PCR based assay, SSCP	Fiorini M et al., 2004
136	Substitutions	Genomic: g.32235A>G CDS: c.1632-2A>G AnimoAcid:	Substitutions	Direct sequencing, PCR based assay, SSCP	Fiorini M et al., 2004
137	Deletion	Genomic: g.32291_32306delGTGGTCCCCACCGGAA CDS: c.1686_1701delGTGGTCCCCACCGGAA AnimoAcid: p.Arg562fs	Deletion	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
138	Deletion	Genomic: g.32303delG CDS: c.1698delG AnimoAcid: p.Glu567fs	Deletion	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
139	Deletion	Genomic: g.32354delT CDS: c.1749delT AnimoAcid: p.Phe583fs	Deletion	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
140	Substitutions	Genomic: g.32360G>A CDS: c.1750+5G>A AnimoAcid:	Substitutions	Direct sequencing, PCR based assay, SSCP	Fiorini M et al., 2004
141	Substitutions	Genomic: g.32887G>T CDS: c.1764G>T AnimoAcid: p.Trp588Cys	Substitutions	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
142	Substitutions	Genomic: g.32895A>C CDS: c.1772A>C AnimoAcid: p.Tyr591Ser	Substitutions	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
143	Substitutions	Genomic: g.32903G>A CDS: c.1780G>A AnimoAcid: p.Gly594Arg	Substitutions	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
144	Substitutions	Genomic: g.32904G>A CDS: c.1781G>A AnimoAcid: p.Gly594Glu	Substitutions	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
145	Substitutions	Genomic: g.32957C>T CDS: c.1834C>T AnimoAcid: p.Gln612X	Substitutions	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
146	Substitutions	Genomic: g.32966C>T CDS: c.1843C>T AnimoAcid: p.Arg615Cys	Substitutions	SSCP, Direct sequencing, PCR based assay	Fiorini M et al., 2004
147	Substitutions	Genomic: g.11023G>A CDS: c.83G>A AnimoAcid: p.Arg28His	Substitutions	Direct sequencing	Velickovic M et al., 2004
148	Substitutions	Genomic: g.11022C>A CDS: c.82C>A AnimoAcid: p.Arg28Ser	Substitutions	Direct sequencing	Velickovic M et al., 2004
149	Deletion	Genomic: g.11591_11596delAGAAGA CDS: c.142_147delAGAAGA AnimoAcid: p.Arg48_Arg49del	Deletion	Direct sequencing	Velickovic M et al., 2004
150	Substitutions	Genomic: g.14522A>G CDS: c.241-2A>G AnimoAcid:	Substitutions	Direct sequencing	Velickovic M et al., 2004
151	Substitutions	Genomic: g.23638G>A CDS: c.494G>A AnimoAcid: p.Cys165Tyr	Substitutions	Direct sequencing	Velickovic M et al., 2004
152	Substitutions	Genomic: g.23608G>A CDS: c.464G>A AnimoAcid: p.Cys155Tyr	Substitutions	Direct sequencing	Velickovic M et al., 2004
153	Substitutions	Genomic: g.25581C>T CDS: c.700C>T AnimoAcid: p.Gln234X	Substitutions	Direct sequencing	Velickovic M et al., 2004
154	Substitutions	Genomic: g.26141A>G CDS: c.839+4A>G AnimoAcid:	Substitutions	Direct sequencing	Velickovic M et al., 2004
155	Substitutions	Genomic: g.26900C>T CDS: c.862C>T AnimoAcid: p.Arg288Trp	Substitutions	Direct sequencing	Velickovic M et al., 2004
156	Substitutions	Genomic: g.27538G>A CDS: c.904G>A AnimoAcid: p.Gly302Arg	Substitutions	Direct sequencing	Velickovic M et al., 2004
157	Substitutions	Genomic: g.29955A>G CDS: c.1350-2A>G AnimoAcid:	Substitutions	Direct sequencing	Velickovic M et al., 2004
158	Substitutions	Genomic: g.30142T>C CDS: c.1535T>C AnimoAcid: p.Leu512Pro	Substitutions	Direct sequencing	Velickovic M et al., 2004
159	Substitutions	Genomic: g.30174G>A CDS: c.1566+1G>A AnimoAcid:	Substitutions	Direct sequencing	Velickovic M et al., 2004
160	Substitutions	Genomic: g.32874G>A CDS: c.1751G>A AnimoAcid: p.Gly584Glu	Substitutions	Direct sequencing	Velickovic M et al., 2004
161	Substitutions	Genomic: g.11022C>T CDS: c.82C>T AnimoAcid: p.Arg28Cys	Substitutions	Direct sequencing	Lopez-Granados E et al., 2005
162	Substitutions	Genomic: g.11616T>C CDS: c.167T>C AnimoAcid: p.Ile56Thr	Substitutions	Direct sequencing	Lopez-Granados E et al., 2005
163	Substitutions	Genomic: g.14591A>G CDS: c.308A>G AnimoAcid: p.Gln103Arg	Substitutions	Direct sequencing	Lopez-Granados E et al., 2005
164	Substitutions	Genomic: g.26900C>T CDS: c.862C>T AnimoAcid: p.Arg288Trp	Substitutions	Direct sequencing	Lopez-Granados E et al., 2005
165	Substitutions	Genomic: g.28661A>C CDS: c.1122A>C AnimoAcid: p.Lys374Asn	Substitutions	Direct sequencing	Lopez-Granados E et al., 2005
166	Substitutions	Genomic: g.29297T>C CDS: c.1205T>C AnimoAcid: p.Leu402Pro	Substitutions	Direct sequencing	Lopez-Granados E et al., 2005
167	Substitutions	Genomic: g.29380A>G CDS: c.1288A>G AnimoAcid: p.Lys430Glu	Substitutions	Direct sequencing	Lopez-Granados E et al., 2005
168	Substitutions	Genomic: g.30142T>C CDS: c.1535T>C AnimoAcid: p.Leu512Pro	Substitutions	Direct sequencing	Lopez-Granados E et al., 2005
169	Substitutions	Genomic: g.32237G>T CDS: c.1632G>T AnimoAcid: p.Arg544Ser	Substitutions	Direct sequencing	Lopez-Granados E et al., 2005
170	Substitutions	Genomic: g.31594A>G CDS: c.1630A>G AnimoAcid: p.Arg544Gly	Substitutions	Direct sequencing	Lopez-Granados E et al., 2005
171	Substitutions	Genomic: g.32301C>T CDS: c.1696C>T AnimoAcid: p.Pro566Ser	Substitutions	Direct sequencing	Lopez-Granados E et al., 2005
172	Substitutions	Genomic: g.32330C>A CDS: c.1725C>A AnimoAcid: p.Ser575Arg	Substitutions	Direct sequencing	Lopez-Granados E et al., 2005
173	Substitutions	Genomic: g.32341A>T CDS: c.1736A>T AnimoAcid: p.Asp579Val	Substitutions	Direct sequencing	Lopez-Granados E et al., 2005
174	Substitutions	Genomic: g.10977C>T CDS: c.37C>T AnimoAcid: p.Arg13X	Substitutions	Direct sequencing	Lopez-Granados E et al., 2005
175	Substitutions	Genomic: g.24050C>T CDS: c.586C>T AnimoAcid: p.Gln196X	Substitutions	Direct sequencing	Lopez-Granados E et al., 2005
176	Substitutions	Genomic: g.25627T>A CDS: c.746T>A AnimoAcid: p.Leu249X	Substitutions	Direct sequencing	Lopez-Granados E et al., 2005
177	Substitutions	Genomic: g.27896C>A CDS: c.1083C>A AnimoAcid: p.Tyr361X	Substitutions	Direct sequencing	Lopez-Granados E et al., 2005
178	Substitutions	Genomic: g.30003A>T CDS: c.1396A>T AnimoAcid: p.Lys466X	Substitutions	Direct sequencing	Lopez-Granados E et al., 2005
179	Substitutions	Genomic: g.32348G>A CDS: c.1743G>A AnimoAcid: p.Trp581X	Substitutions	Direct sequencing	Lopez-Granados E et al., 2005
180	Substitutions	Genomic: g.32957C>T CDS: c.1834C>T AnimoAcid: p.Gln612X	Substitutions	Direct sequencing	Lopez-Granados E et al., 2005
181	Substitutions	Genomic: g.10910G>C CDS: c.1-31G>C AnimoAcid: p.0	Substitutions	Direct sequencing	Lopez-Granados E et al., 2005
182	Substitutions	Genomic: g.23534A>G CDS: c.392-2A>G AnimoAcid:	Substitutions	Direct sequencing	Lopez-Granados E et al., 2005
183	Substitutions	Genomic: g.23669G>A CDS: c.520+5G>A AnimoAcid:	Substitutions	Direct sequencing	Lopez-Granados E et al., 2005
184	Deletion-Insertion	Genomic: g.29269_29270delinsCT CDS: c.1178-1_1178delinsCT AnimoAcid:	Deletion-Insertion	Direct sequencing	Lopez-Granados E et al., 2005
185	Deletion	Genomic: g.16149delG CDS: c.313delG AnimoAcid: p.Val105fs	Deletion	Direct sequencing	Lopez-Granados E et al., 2005
186	Deletion	Genomic: g.25501delC CDS: c.620delC AnimoAcid: p.Ala207fs	Deletion	Direct sequencing	Lopez-Granados E et al., 2005
187	Deletion	Genomic: g.25534delA CDS: c.653delA AnimoAcid: p.Lys218fs	Deletion	Direct sequencing	Lopez-Granados E et al., 2005
188	Insertion	Genomic: g.32319_32320insTA CDS: c.1714_1715insTA AnimoAcid: p.Ser572fs	Insertion	Direct sequencing	Lopez-Granados E et al., 2005
189	Deletion	Genomic: g.25537_25542delTTGTGG CDS: c.656_661delTTGTGG AnimoAcid: p.Val219fs	Deletion	Direct sequencing	Lopez-Granados E et al., 2005
190	Deletion	Genomic: g.32957delC CDS: c.1834delC AnimoAcid: p.Gln612fs	Deletion	Direct sequencing	Lopez-Granados E et al., 2005
191	Deletion	Genomic: g.16204_16206delGGT CDS: c.368_370delGGT AnimoAcid: p.Trp124del	Deletion	Direct sequencing	Lopez-Granados E et al., 2005
192	Deletion	Genomic: g.27537_27539delAGG CDS: c.903_905delAGG AnimoAcid: p.Gly302del	Deletion	Direct sequencing	Lopez-Granados E et al., 2005
193	Substitutions	Genomic: g.23585G>A CDS: c.441G>A AnimoAcid: p.Trp147X	Substitutions	SSCP, Direct sequencing	Vorechovsky I et al., 1997
194	Substitutions	Genomic: g.27553A>G CDS: c.919A>G AnimoAcid: p.Arg307Gly	Substitutions	SSCP, Direct sequencing	Vorechovsky I et al., 1997
195	Substitutions	Genomic: g.32299C>A CDS: c.1694C>A AnimoAcid: p.Pro565Gln	Substitutions	SSCP	Jo EK et al., 2003
196	Substitutions	Genomic: g.11023G>A CDS: c.83G>A AnimoAcid: p.Arg28His	Substitutions	Direct sequencing, PCR based assay	Ohta Y et al., 1994
197	Substitutions	Genomic: g.26138G>A CDS: c.839+1G>A AnimoAcid: p.Gln260TrpfsX32	Substitutions	Southern blotting, Direct sequencing, PCR based assay	Zhu Q et al., 1994
198	Substitutions	Genomic: g.29413G>T CDS: c.1321G>T AnimoAcid: p.Glu441X	Substitutions	SSCP, Direct sequencing	Hashimoto S et al., 1996
199	Substitutions	Genomic: g.30096C>T CDS: c.1489C>T AnimoAcid: p.Gln497X	Substitutions	SSCP, Direct sequencing	Hashimoto S et al., 1996
200	Substitutions	Genomic: g.30113C>G CDS: c.1506C>G AnimoAcid: p.Cys502Trp	Substitutions	SSCP, Direct sequencing	Hashimoto S et al., 1996
201	Deletion	Genomic: g.31582_31591delTTCGGCCTGT CDS: c.1618_1627delTTCGGCCTGT AnimoAcid: p.Phe540fs	Deletion	SSCP, Direct sequencing	Hashimoto S et al., 1996
202	Deletion	Genomic: g.28692delC CDS: c.1153delC AnimoAcid: p.Pro385fs	Deletion	SSCP, Direct sequencing	Hashimoto S et al., 1996
203	Deletion	Genomic: g.31501_33001del CDS: c.1567_1908del AnimoAcid: p.Ala523_Glu636del	Deletion	SSCP, Direct sequencing	Hashimoto S et al., 1996
204	Substitutions	Genomic: g.29982C>T CDS: c.1375C>T AnimoAcid: p.Gln459X	Substitutions	SSCP, Direct sequencing	Hashimoto S et al., 1996
205	Deletion	Genomic: g.26926_36340+?del CDS: c.888_*?del AnimoAcid:	Deletion	SSCP, Direct sequencing	Hashimoto S et al., 1996
206	Deletion	Genomic: g.11591_11595delAGAAG CDS: c.142_146delAGAAG AnimoAcid: p.Arg48fs	Deletion	SSCP, Direct sequencing	Hashimoto S et al., 1996
207	Deletion	Genomic: g.14524_14528delAGAAG CDS: c.241_245delAGAAG AnimoAcid: p.Arg81fs	Deletion	SSCP, Direct sequencing	Hashimoto S et al., 1996
208	Substitutions	Genomic: g.36291T>C CDS: c.1931T>C AnimoAcid: p.Phe644Ser	Substitutions	SSCP, Direct sequencing	Hashimoto S et al., 1996
209	Deletion	Genomic: g.11059_11081del CDS: c.119_141del AnimoAcid: p.Tyr40fs	Deletion	SSCP, Direct sequencing	Hashimoto S et al., 1996
210	Substitutions	Genomic: g.16207G>A CDS: c.371G>A AnimoAcid: p.Trp124X	Substitutions	SSCP, Direct sequencing	Hashimoto S et al., 1996
211	Substitutions	Genomic: g.11023G>C CDS: c.83G>C AnimoAcid: p.Arg28Pro	Substitutions	SSCP, Direct sequencing	Hashimoto S et al., 1996
212	Substitutions	Genomic: g.23546C>A CDS: c.402C>A AnimoAcid: p.Tyr134X	Substitutions	SSCP, Direct sequencing	Hashimoto S et al., 1996
213	Deletion	Genomic: g.27789delG CDS: c.976delG AnimoAcid: p.Asp326fs	Deletion	SSCP, Direct sequencing	Hashimoto S et al., 1996
214	Substitutions	Genomic: g.33025G>A CDS: c.1902G>A AnimoAcid: p.Trp634X	Substitutions	SSCP, Direct sequencing	Hashimoto S et al., 1996
215	Substitutions	Genomic: g.23570T>G CDS: c.426T>G AnimoAcid: p.Tyr142X	Substitutions	SSCP, Direct sequencing	Hashimoto S et al., 1996
216	Insertion	Genomic: g.32237_32238ins60bp CDS: c.1632_1633ins60bp AnimoAcid: p.Tyr545fs	Insertion	SSCP, Direct sequencing	Hashimoto S et al., 1996
217	Substitutions	Genomic: g.27539G>A CDS: c.905G>A AnimoAcid: p.Gly302Glu	Substitutions	SSCP, Direct sequencing	Hashimoto S et al., 1996
218	Substitutions	Genomic: g.23570T>G CDS: c.426T>G AnimoAcid: p.Tyr142X	Substitutions	SSCP, Direct sequencing	Hashimoto S et al., 1996
219	Substitutions	Genomic: g.26922T>C CDS: c.884T>C AnimoAcid: p.Leu295Pro	Substitutions	SSCP, Direct sequencing	Schuster V et al., 1996
220	Substitutions	Genomic: g.36275G>T CDS: c.1915G>T AnimoAcid: p.Asp639Tyr	Substitutions	Direct sequencing	Lopez-Herrera G et al., 2008
221	Substitutions	Genomic: g.11056A>G CDS: c.116A>G AnimoAcid: p.Tyr39Cys	Substitutions	Direct sequencing, PCR based assay	Wang Y et al., 2001
222	Deletion	Genomic: g.32273_32294del CDS: c.1668_1689del AnimoAcid: p.Ser557fs	Deletion	SSCP, Direct sequencing, PCR based assay	Wang Y et al., 2001
223	Substitutions	Genomic: g.26142G>A CDS: c.839+5G>A AnimoAcid:	Substitutions	SSCP, Direct sequencing, PCR based assay	Wang Y et al., 2001
224	Deletion	Genomic: g.32316_32320delTATAG CDS: c.1711_1751delTATAG AnimoAcid: p.Tyr571fs	Deletion	SSCP, Direct sequencing, PCR based assay	Wang Y et al., 2001
225	Deletion	Genomic: g.28695_28699delTCCAC CDS: c.1156_1160delTCCAC AnimoAcid: p.Ser386fs	Deletion	SSCP, Direct sequencing, PCR based assay	Wang Y et al., 2001
226	Substitutions	Genomic: g.27840C>T CDS: c.1027C>T AnimoAcid: p.Gln343X	Substitutions	PCR based assay	Wang Y et al., 2001
227	Substitutions	Genomic: g.11023G>A CDS: c.83G>A AnimoAcid: p.Arg28His	Substitutions	SSCP, Direct sequencing, PCR based assay	Wang Y et al., 2001
228	Deletion	Genomic: g.11608delG CDS: c.159delG AnimoAcid: p.Gly54fs	Deletion	SSCP, Direct sequencing, PCR based assay	Wang Y et al., 2001
229	Substitutions	Genomic: g.32355G>A CDS: c.1750G>A AnimoAcid: p.Gly584Arg	Substitutions	SSCP, Direct sequencing, PCR based assay	Wang Y et al., 2001
230	Substitutions	Genomic: g.32337T>C CDS: c.1732T>C AnimoAcid: p.Ser578Pro	Substitutions	Direct sequencing	Lopez-Herrera G et al., 2008
231	Substitutions	Genomic: g.32237G>C CDS: c.1632G>C AnimoAcid: p.Arg544Ser	Substitutions	Direct sequencing	Lopez-Herrera G et al., 2008
232	Substitutions	Genomic: g.36282G>A CDS: c.1922G>A AnimoAcid: p.Arg641His	Substitutions	Direct sequencing	Lopez-Herrera G et al., 2008
233	Deletion	Genomic: g.27499_27578del CDS: c.895_974del AnimoAcid: p.Lys300ProfsX22	Deletion	Direct sequencing	Lopez-Herrera G et al., 2008
234	Deletion	Genomic: g.29927_30143del CDS: c.1350_1566del AnimoAcid: p.Asn451GlnfsX7	Deletion	Direct sequencing	Lopez-Herrera G et al., 2008
235	Substitutions	Genomic: g.26900C>T CDS: c.862C>T AnimoAcid: p.Arg288Trp	Substitutions	Direct sequencing	Lopez-Herrera G et al., 2008
236	Substitutions	Genomic: g.32289C>T CDS: c.1684C>T AnimoAcid: p.Arg562Trp	Substitutions	Direct sequencing	Lopez-Herrera G et al., 2008
237	Substitutions	Genomic: g.16168T>C CDS: c.332T>C AnimoAcid: p.Leu111Pro	Substitutions	Direct sequencing	Lopez-Herrera G et al., 2008
238	Substitutions	Genomic: g.32937A>G CDS: c.1814A>G AnimoAcid: p.Glu605Gly	Substitutions	Direct sequencing	Lopez-Herrera G et al., 2008
239	Deletion	Genomic: g.26848_27578del CDS: c.840_974del AnimoAcid: p.Trp281fs	Deletion	Direct sequencing	Lopez-Herrera G et al., 2008
240	Substitutions	Genomic: g.32961G>C CDS: c.1838G>C AnimoAcid: p.Gly613Ala	Substitutions	Direct sequencing	Papapetropoulos S et al., 2007
241	Deletion	Genomic: g.26136_26139delGAGT CDS: c.838_839+2delGAGT AnimoAcid: p.Gln260TrpfsX32	Deletion	SSCP, Direct sequencing	Mesci L et al., 2006
242	Substitutions	Genomic: g.26900C>T CDS: c.862C>T AnimoAcid: p.Arg288Trp	Substitutions	Direct sequencing, PCR based assay	Wattanasirichaigoon D et al., 2006
243	Substitutions	Genomic: g.32289C>T CDS: c.1684C>T AnimoAcid: p.Arg562Trp	Substitutions	Direct sequencing, PCR based assay	Wattanasirichaigoon D et al., 2006
244	Deletion	Genomic: g.32354delT CDS: c.1749delT AnimoAcid: p.Phe583fs	Deletion	Direct sequencing, PCR based assay	Wattanasirichaigoon D et al., 2006
245	Substitutions	Genomic: g.25658G>A CDS: c.776+1G>A AnimoAcid: p.Gly259fs	Substitutions	Direct sequencing, PCR based assay	Wattanasirichaigoon D et al., 2006
246	Substitutions	Genomic: g.24052G>C CDS: c.588G>C AnimoAcid: p.Gln196fs	Substitutions	Direct sequencing, PCR based assay	Wattanasirichaigoon D et al., 2006
247	Substitutions	Genomic: g.29355G>A CDS: c.1263G>A AnimoAcid: p.Trp421X	Substitutions	Direct sequencing, PCR based assay	Wattanasirichaigoon D et al., 2006
248	Substitutions	Genomic: g.11681C>T CDS: c.232C>T AnimoAcid: p.Gln78X	Substitutions	Direct sequencing, PCR based assay	Ohta Y et al., 1994
249	Substitutions	Genomic: g.31538G>A CDS: c.1574G>A AnimoAcid: p.Arg525Gln	Substitutions	Direct sequencing	Ohta Y et al., 1994
250	Deletion	Genomic: g.29927_31565del CDS: c.1350_1631del AnimoAcid: p.Asn451_Arg544del	Deletion	Direct sequencing	Lopez-Herrera G et al., 2008
251	Deletion	Genomic: g.31544_31547delGTTT CDS: c.1580_1583delGTTT AnimoAcid: p.Cys527fs	Deletion	Direct sequencing	Ohta Y et al., 1994
252	Substitutions	Genomic: g.10983C>T CDS: c.43C>T AnimoAcid: p.Gln15X	Substitutions	SSCP, Direct sequencing	Hagemann TL et al., 1995
253	Substitutions	Genomic: g.26881G>A CDS: c.843G>A AnimoAcid: p.Trp281X	Substitutions	SSCP, Direct sequencing	Hagemann TL et al., 1995
254	Substitutions	Genomic: g.27539G>A CDS: c.905G>A AnimoAcid: p.Gly302Glu	Substitutions	SSCP, Direct sequencing	Hagemann TL et al., 1995
255	Substitutions	Genomic: g.30033T>G CDS: c.1426T>G AnimoAcid: p.Tyr476Asp	Substitutions	SSCP, Direct sequencing	Hagemann TL et al., 1995
256	Deletion	Genomic: g.27527delA CDS: c.895-2delA AnimoAcid:	Deletion	SSCP, Direct sequencing	Hagemann TL et al., 1995
257	Insertion	Genomic: g.28670_28671insGCTCAAATATCCAGTG CDS: c.1131_1132insGCTCAAATATCCAGTG AnimoAcid: p.Ser378fs	Insertion	SSCP, Direct sequencing	Hagemann TL et al., 1995
258	Substitutions	Genomic: g.11058T>A CDS: c.118T>A AnimoAcid: p.Tyr40Asn	Substitutions	SSCP, Direct sequencing	Saha BK et al., 1997
259	Substitutions	Genomic: g.11059A>G CDS: c.119A>G AnimoAcid: p.Tyr40Cys	Substitutions	SSCP, Direct sequencing	Saha BK et al., 1997
260	Deletion	Genomic: g.16155delG CDS: c.319delG AnimoAcid: p.Asp107fs	Deletion	SSCP, Direct sequencing	Saha BK et al., 1997
261	Substitutions	Genomic: g.30130C>A CDS: c.1523C>A AnimoAcid: p.Ala508Asp	Substitutions	SSCP, Direct sequencing	Saha BK et al., 1997
262	Substitutions	Genomic: g.33032G>T CDS: c.1908+1G>T AnimoAcid:	Substitutions	SSCP, Direct sequencing	Saha BK et al., 1997
263	Substitutions	Genomic: g.10977C>T CDS: c.37C>T AnimoAcid: p.Arg13X	Substitutions	SSCP, Direct sequencing	Haire RN et al., 1997
264	Substitutions	Genomic: g.26900C>T CDS: c.862C>T AnimoAcid: p.Arg288Trp	Substitutions	SSCP, Direct sequencing	Haire RN et al., 1997
265	Substitutions	Genomic: g.27539G>A CDS: c.905G>A AnimoAcid: p.Gly302Glu	Substitutions	SSCP, Direct sequencing	Haire RN et al., 1997
266	Substitutions	Genomic: g.10977C>T CDS: c.37C>T AnimoAcid: p.Arg13X	Substitutions	SSCP, Direct sequencing	Vorechovsky I et al., 1997
267	Substitutions	Genomic: g.10995A>T CDS: c.55A>T AnimoAcid: p.Lys19X	Substitutions	SSCP, Direct sequencing	Vorechovsky I et al., 1997
268	Substitutions	Genomic: g.11023G>A CDS: c.83G>A AnimoAcid: p.Arg28His	Substitutions	SSCP, Direct sequencing	Vorechovsky I et al., 1997
269	Substitutions	Genomic: g.11082G>A CDS: c.141+1G>A AnimoAcid:	Substitutions	SSCP, Direct sequencing	Vorechovsky I et al., 1997
270	Deletion	Genomic: g.11620_11621delTG CDS: c.171_172delTG AnimoAcid: p.Asp57fs	Deletion	SSCP, Direct sequencing	Vorechovsky I et al., 1997
271	Substitutions	Genomic: g.25658G>A CDS: c.776+1G>A AnimoAcid:	Substitutions	SSCP, Direct sequencing	Vorechovsky I et al., 1997
272	Substitutions	Genomic: g.27795C>T CDS: c.982C>T AnimoAcid: p.Gln328X	Substitutions	SSCP, Direct sequencing	Vorechovsky I et al., 1997
273	Substitutions	Genomic: g.28664T>G CDS: c.1125T>G AnimoAcid: p.Tyr375X	Substitutions	SSCP, Direct sequencing	Vorechovsky I et al., 1997
274	Substitutions	Genomic: g.29380A>G CDS: c.1288A>G AnimoAcid: p.Lys430Glu	Substitutions	SSCP, Direct sequencing	Vorechovsky I et al., 1997
275	Deletion	Genomic: g.30035delC CDS: c.1428delC AnimoAcid: p.Tyr476fs	Deletion	SSCP, Direct sequencing	Vorechovsky I et al., 1997
276	Substitutions	Genomic: g.30124G>A CDS: c.1517G>A AnimoAcid: p.Cys506Tyr	Substitutions	SSCP, Direct sequencing	Vorechovsky I et al., 1997
277	Substitutions	Genomic: g.30165C>T CDS: c.1558C>T AnimoAcid: p.Arg520X	Substitutions	SSCP, Direct sequencing	Vorechovsky I et al., 1997
278	Substitutions	Genomic: g.32916A>G CDS: c.1793A>G AnimoAcid: p.Tyr598Cys	Substitutions	SSCP, Direct sequencing	Vorechovsky I et al., 1997
279	Substitutions	Genomic: g.32978C>T CDS: c.1855C>T AnimoAcid: p.Pro619Ser	Substitutions	SSCP, Direct sequencing	Vorechovsky I et al., 1997
280	Substitutions	Genomic: g.10972T>C CDS: c.32T>C AnimoAcid: p.Leu11Pro	Substitutions	SSCP, Direct sequencing	Brooimans RA et al., 1997
281	Substitutions	Genomic: g.25658G>T CDS: c.776+1G>T AnimoAcid: p.Glu215ArgfsX17	Substitutions	SSCP, Direct sequencing	Brooimans RA et al., 1997
282	Substitutions	Genomic: g.25644C>T CDS: c.763C>T AnimoAcid: p.Arg255X	Substitutions	SSCP, Direct sequencing	Brooimans RA et al., 1997
283	Substitutions	Genomic: g.27899T>G CDS: c.1086T>G AnimoAcid: p.His362Gln	Substitutions	SSCP, Direct sequencing	Brooimans RA et al., 1997
284	Substitutions	Genomic: g.27906A>T CDS: c.1093A>T AnimoAcid: p.Asn365Tyr	Substitutions	SSCP, Direct sequencing	Brooimans RA et al., 1997
285	Deletion	Genomic: g.28718delT CDS: c.1177+2delT AnimoAcid:	Deletion	SSCP, Direct sequencing	Brooimans RA et al., 1997
286	Substitutions	Genomic: g.27795C>T CDS: c.982C>T AnimoAcid: p.Gln328X	Substitutions	SSCP, Direct sequencing	Brooimans RA et al., 1997
287	Substitutions	Genomic: g.29442G>T CDS: c.1349+1G>T AnimoAcid:	Substitutions	SSCP, Direct sequencing	Brooimans RA et al., 1997
288	Substitutions	Genomic: g.29446G>A CDS: c.1349+5G>A AnimoAcid:	Substitutions	SSCP, Direct sequencing	Brooimans RA et al., 1997
289	Substitutions	Genomic: g.10910G>C CDS: c.1-31G>C AnimoAcid:	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
290	Substitutions	Genomic: g.10942T>C CDS: c.2T>C AnimoAcid: p.Met1?	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
291	Substitutions	Genomic: g.10977C>T CDS: c.37C>T AnimoAcid: p.Arg13X	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
292	Substitutions	Genomic: g.10983C>A CDS: c.43C>A AnimoAcid: p.Gln15X	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
293	Deletion	Genomic: g.11003delA CDS: c.63delA AnimoAcid: p.Pro22LeufsX2	Deletion	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
294	Substitutions	Genomic: g.11023G>A CDS: c.83G>A AnimoAcid: p.Arg28His	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
295	Substitutions	Genomic: g.11032T>C CDS: c.92T>C AnimoAcid: p.Leu31Pro	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
296	Deletion	Genomic: g.11591delA CDS: c.142delA AnimoAcid: p.Arg48GlnfsX9	Deletion	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
297	Substitutions	Genomic: g.11082G>C CDS: c.141+1G>C AnimoAcid:	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
298	Substitutions	Genomic: g.11681C>T CDS: c.232C>T AnimoAcid: p.Gln78X	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
299	Substitutions	Genomic: g.11691T>G CDS: c.240+2T>G AnimoAcid:	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
300	Insertion	Genomic: g.14552_14553insAAATGGA CDS: c.269_270insAAATGGA AnimoAcid: p.Gln91AsnfsX8	Insertion	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
301	Substitutions	Genomic: g.16144A>T CDS: c.310-2A>T AnimoAcid:	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
302	Deletion	Genomic: g.16146_16147delGT CDS: c.310_311delGT AnimoAcid: p.Val104fs	Deletion	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
303	Substitutions	Genomic: g.16172C>G CDS: c.336C>G AnimoAcid: p.Tyr112X	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
304	Substitutions	Genomic: g.23640C>T CDS: c.496C>T AnimoAcid: p.Gln166X	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
305	Insertion	Genomic: g.23657_23658insG CDS: c.513_514insG AnimoAcid: p.Asn172fs	Insertion	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
306	Substitutions	Genomic: g.23665G>A CDS: c.520+1G>A AnimoAcid:	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
307	Substitutions	Genomic: g.23669G>T CDS: c.520+5G>T AnimoAcid:	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
308	Deletion	Genomic: g.24021delA CDS: c.557delA AnimoAcid: p.Lys186SerfsX13	Deletion	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
309	Substitutions	Genomic: g.25550T>G CDS: c.669T>G AnimoAcid: p.Tyr223X	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
310	Substitutions	Genomic: g.25644C>T CDS: c.763C>T AnimoAcid: p.Arg255X	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
311	Substitutions	Genomic: g.26136G>T CDS: c.838G>T AnimoAcid: p.Glu280X	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
312	Deletion	Genomic: g.26137_26140delAGAT CDS: c.839_840+2delAGAT AnimoAcid: p.Glu280fs	Deletion	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
313	Deletion	Genomic: g.26892delA CDS: c.854delA AnimoAcid: p.His285fs	Deletion	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
314	Deletion	Genomic: g.26894_26895delAT CDS: c.856_857delAT AnimoAcid: p.Met286fs	Deletion	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
315	Substitutions	Genomic: g.26900C>T CDS: c.862C>T AnimoAcid: p.Arg288Trp	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
316	Substitutions	Genomic: g.26901G>A CDS: c.863G>A AnimoAcid: p.Arg288Gln	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
317	Deletion	Genomic: g.26900_26903delCGGA CDS: c.862_865delCGGA AnimoAcid: p.Arg288fs	Deletion	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
318	Deletion	Genomic: g.27576delA CDS: c.942delA AnimoAcid: p.Lys314fs	Deletion	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
319	Substitutions	Genomic: g.27587C>T CDS: c.953C>T AnimoAcid: p.Ser318Phe	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
320	Substitutions	Genomic: g.27814A>C CDS: c.1001A>C AnimoAcid: p.Tyr334Ser	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
321	Substitutions	Genomic: g.27850T>C CDS: c.1037T>C AnimoAcid: p.Leu346Pro	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
322	Substitutions	Genomic: g.27894T>G CDS: c.1081T>G AnimoAcid: p.Tyr361Asp	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
323	Substitutions	Genomic: g.27896C>A CDS: c.1083C>A AnimoAcid: p.Tyr361X	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
324	Substitutions	Genomic: g.27903C>G CDS: c.1090C>G AnimoAcid: p.His364Asp	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
325	Substitutions	Genomic: g.27915G>T CDS: c.1102G>T AnimoAcid: p.Gly368X	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
326	Substitutions	Genomic: g.28677C>T CDS: c.1138C>T AnimoAcid: p.Gln380X	Substitutions	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
327	Deletion-Insertion	Genomic: g.28684_28686delinsTT CDS: c.1145_1147delinsTT AnimoAcid: p.Lys382fs	Deletion-Insertion	SSCP, Southern blotting, Direct sequencing	Conley ME et al., 2005
328	Substitutions	Genomic: g.29276G>A CDS: c.1184G>A AnimoAcid: p.Trp395X	Substitutions	Direct sequencing, Southern blotting, SSCP	Conley ME et al., 2005
329	Substitutions	Genomic: g.29347G>A CDS: c.1255G>A AnimoAcid: p.Gly419Arg	Substitutions	Direct sequencing, Southern blotting, SSCP	Conley ME et al., 2005
330	Substitutions	Genomic: g.25476A>T CDS: c.595A>T AnimoAcid: p.Lys199X	Substitutions	Fluorescent sequencing	Lee WI et al., 2005
331	Substitutions	Genomic: g.32975A>G CDS: c.1852A>G AnimoAcid: p.Arg618Gly	Substitutions	Fluorescent sequencing	Lee WI et al., 2005
332	Substitutions	Genomic: g.24022G>T CDS: c.558G>T AnimoAcid: p.Lys186Asn	Substitutions	Direct sequencing, Southern blotting, SSCP	Conley ME et al., 2005
333	Insertion	Genomic: g.25566_25567insTTAC CDS: c.685_686insTTAC AnimoAcid: p.Asn229fs	Insertion	Direct sequencing	Mamishi S et al., 2008
334	Substitutions	Genomic: g.11023G>A CDS: c.83G>A AnimoAcid: p.Arg28His	Substitutions	Direct sequencing	Ochs HD et al., 1996
335	Substitutions	Genomic: g.29315T>C CDS: c.1223T>C AnimoAcid: p.Leu408Pro	Substitutions	Direct sequencing	Ochs HD et al., 1996
336	Substitutions	Genomic: g.31538G>A CDS: c.1574G>A AnimoAcid: p.Arg525Gln	Substitutions	Direct sequencing	Ochs HD et al., 1996
337	Substitutions	Genomic: g.32889A>G CDS: c.1766A>G AnimoAcid: p.Glu589Gly	Substitutions	Direct sequencing	Ochs HD et al., 1996
338	Substitutions	Genomic: g.32961G>A CDS: c.1838G>A AnimoAcid: p.Gly613Asp	Substitutions	Direct sequencing	Ochs HD et al., 1996
339	Substitutions	Genomic: g.16174T>A CDS: c.338T>A AnimoAcid: p.Val113Asp	Substitutions	Direct sequencing, SSCP	Farrar JE et al., 1996
340	Substitutions	Genomic: g.16180C>T CDS: c.344C>T AnimoAcid: p.Ser115Phe	Substitutions	Direct sequencing, SSCP	Farrar JE et al., 1996
341	Substitutions	Genomic: g.25612T>A CDS: c.731T>A AnimoAcid: p.Leu244X	Substitutions	Direct sequencing, SSCP	Farrar JE et al., 1996
342	Substitutions	Genomic: g.29381A>G CDS: c.1289A>G AnimoAcid: p.Lys430Arg	Substitutions	Direct sequencing, SSCP	Farrar JE et al., 1996
343	Substitutions	Genomic: g.30134G>A CDS: c.1527G>A AnimoAcid: p.Met509Ile	Substitutions	Direct sequencing, SSCP	Farrar JE et al., 1996
344	Substitutions	Genomic: g.30165C>T CDS: c.1558C>T AnimoAcid: p.Arg520X	Substitutions	Direct sequencing, SSCP	Farrar JE et al., 1996
345	Substitutions	Genomic: g.32346T>C CDS: c.1741T>C AnimoAcid: p.Trp581Arg	Substitutions	Direct sequencing, SSCP	Farrar JE et al., 1996
346	Substitutions	Genomic: g.32350C>T CDS: c.1745C>T AnimoAcid: p.Ala582Val	Substitutions	Direct sequencing, SSCP	Farrar JE et al., 1996
347	Substitutions	Genomic: g.32896C>A CDS: c.1773C>A AnimoAcid: p.Tyr591X	Substitutions	Direct sequencing, SSCP	Farrar JE et al., 1996
348	Substitutions	Genomic: g.32987G>C CDS: c.1864G>C AnimoAcid: p.Ala622Pro	Substitutions	Direct sequencing, SSCP	Farrar JE et al., 1996
349	Deletion	Genomic: g.11675_11678delGAAA CDS: c.226_229delGAAA AnimoAcid: p.Glu76fs	Deletion	Direct sequencing, SSCP	Farrar JE et al., 1996
350	Substitutions	Genomic: g.23983A>G CDS: c.521-2A>G AnimoAcid:	Substitutions	Direct sequencing, SSCP	Farrar JE et al., 1996
351	Substitutions	Genomic: g.32356G>T CDS: c.1750+1G>T AnimoAcid:	Substitutions	Direct sequencing, SSCP	Farrar JE et al., 1996
352	Substitutions	Genomic: g.23579C>A CDS: c.435C>A AnimoAcid: p.Cys145X	Substitutions	Direct sequencing	Kornfeld SJ et al., 1996
353	Substitutions	Genomic: g.27885C>T CDS: c.1072C>T AnimoAcid: p.Leu358Phe	Substitutions	Direct sequencing, Restriction enzyme analysis	Ohashi Y et al., 1995
354	Deletion	Genomic: g.32933_32934delAG CDS: c.1810_1811delAG AnimoAcid: p.Ser604fs	Deletion	Direct sequencing, Restriction enzyme analysis	Usui K et al., 2001
355	Substitutions	Genomic: g.11022C>T CDS: c.82C>T AnimoAcid: p.Arg28Cys	Substitutions	Direct sequencing	Kanegane H et al., 2001
356	Substitutions	Genomic: g.11035T>C CDS: c.95T>C AnimoAcid: p.Leu32Ser	Substitutions	Direct sequencing	Kanegane H et al., 2001
357	Substitutions	Genomic: g.11056A>G CDS: c.116A>G AnimoAcid: p.Tyr39Cys	Substitutions	Direct sequencing	Kanegane H et al., 2001
358	Substitutions	Genomic: g.11639G>T CDS: c.190G>T AnimoAcid: p.Val64Phe	Substitutions	Direct sequencing	Kanegane H et al., 2001
359	Substitutions	Genomic: g.14575T>G CDS: c.292T>G AnimoAcid: p.Phe98Val	Substitutions	Direct sequencing	Kanegane H et al., 2001
360	Substitutions	Genomic: g.16168T>G CDS: c.332T>G AnimoAcid: p.Leu111Arg	Substitutions	Direct sequencing	Kanegane H et al., 2001
361	Substitutions	Genomic: g.16185A>C CDS: c.349A>C AnimoAcid: p.Thr117Pro	Substitutions	Direct sequencing	Kanegane H et al., 2001
362	Substitutions	Genomic: g.26900C>T CDS: c.862C>T AnimoAcid: p.Arg288Trp	Substitutions	Direct sequencing	Kanegane H et al., 2001
363	Substitutions	Genomic: g.27553A>G CDS: c.919A>G AnimoAcid: p.Arg307Gly	Substitutions	Direct sequencing	Kanegane H et al., 2001
364	Substitutions	Genomic: g.27555A>C CDS: c.921A>C AnimoAcid: p.Arg307Ser	Substitutions	Direct sequencing	Kanegane H et al., 2001
365	Substitutions	Genomic: g.30134G>T CDS: c.1527G>T AnimoAcid: p.Met509Ile	Substitutions	Direct sequencing	Kanegane H et al., 2001
366	Substitutions	Genomic: g.31538G>A CDS: c.1574G>A AnimoAcid: p.Arg525Gln	Substitutions	Direct sequencing	Kanegane H et al., 2001
367	Substitutions	Genomic: g.31574T>A CDS: c.1610T>A AnimoAcid: p.Val537Glu	Substitutions	Direct sequencing	Kanegane H et al., 2001
368	Substitutions	Genomic: g.32289C>T CDS: c.1684C>T AnimoAcid: p.Arg562Trp	Substitutions	Direct sequencing	Kanegane H et al., 2001
369	Substitutions	Genomic: g.32306A>C CDS: c.1701A>C AnimoAcid: p.Glu567Asp	Substitutions	Direct sequencing	Kanegane H et al., 2001
370	Substitutions	Genomic: g.32350C>T CDS: c.1745C>T AnimoAcid: p.Ala582Val	Substitutions	Direct sequencing	Kanegane H et al., 2001
371	Substitutions	Genomic: g.32876G>T CDS: c.1753G>T AnimoAcid: p.Val585Phe	Substitutions	Direct sequencing	Kanegane H et al., 2001
372	Substitutions	Genomic: g.32898C>A CDS: c.1775C>A AnimoAcid: p.Ser592Tyr	Substitutions	Direct sequencing	Kanegane H et al., 2001
373	Substitutions	Genomic: g.32903G>C CDS: c.1780G>C AnimoAcid: p.Gly594Arg	Substitutions	Direct sequencing	Kanegane H et al., 2001
374	Substitutions	Genomic: g.32915T>G CDS: c.1792T>G AnimoAcid: p.Tyr598Asp	Substitutions	Direct sequencing	Kanegane H et al., 2001
375	Substitutions	Genomic: g.32916A>C CDS: c.1793A>C AnimoAcid: p.Tyr598Ser	Substitutions	Direct sequencing	Kanegane H et al., 2001
376	Substitutions	Genomic: g.32967G>C CDS: c.1844G>C AnimoAcid: p.Arg615Pro	Substitutions	Direct sequencing	Kanegane H et al., 2001
377	Substitutions	Genomic: g.32969C>A CDS: c.1846C>A AnimoAcid: p.Leu616Ile	Substitutions	Direct sequencing	Kanegane H et al., 2001
378	Substitutions	Genomic: g.32979C>T CDS: c.1856C>T AnimoAcid: p.Pro619Leu	Substitutions	Direct sequencing	Kanegane H et al., 2001
379	Substitutions	Genomic: g.36281C>T CDS: c.1921C>T AnimoAcid: p.Arg641Cys	Substitutions	Direct sequencing	Kanegane H et al., 2001
380	Substitutions	Genomic: g.36282G>A CDS: c.1922G>A AnimoAcid: p.Arg641His	Substitutions	Direct sequencing	Kanegane H et al., 2001
381	Substitutions	Genomic: g.36288C>T CDS: c.1928C>T AnimoAcid: p.Thr643Ile	Substitutions	Direct sequencing	Kanegane H et al., 2001
382	Substitutions	Genomic: g.10977C>T CDS: c.37C>T AnimoAcid: p.Arg13X	Substitutions	Direct sequencing	Kanegane H et al., 2001
383	Substitutions	Genomic: g.25599G>T CDS: c.718G>T AnimoAcid: p.Glu240X	Substitutions	Direct sequencing	Kanegane H et al., 2001
384	Substitutions	Genomic: g.25637G>A CDS: c.756G>A AnimoAcid: p.Trp252X	Substitutions	Direct sequencing	Kanegane H et al., 2001
385	Substitutions	Genomic: g.25644C>T CDS: c.763C>T AnimoAcid: p.Arg255X	Substitutions	Direct sequencing	Kanegane H et al., 2001
386	Substitutions	Genomic: g.29999C>A CDS: c.1392C>A AnimoAcid: p.Cys464X	Substitutions	Direct sequencing	Kanegane H et al., 2001
387	Substitutions	Genomic: g.30096C>T CDS: c.1489C>T AnimoAcid: p.Gln497X	Substitutions	Direct sequencing	Kanegane H et al., 2001
388	Substitutions	Genomic: g.30105G>T CDS: c.1498G>T AnimoAcid: p.Glu500X	Substitutions	Direct sequencing	Kanegane H et al., 2001
389	Substitutions	Genomic: g.30165C>T CDS: c.1558C>T AnimoAcid: p.Arg520X	Substitutions	Direct sequencing	Kanegane H et al., 2001
390	Substitutions	Genomic: g.31537C>T CDS: c.1573C>T AnimoAcid: p.Arg525X	Substitutions	Direct sequencing	Kanegane H et al., 2001
391	Deletion	Genomic: g.11059_11081del CDS: c.119_141del AnimoAcid: p.Tyr40X	Deletion	Direct sequencing	Kanegane H et al., 2001
392	Deletion	Genomic: g.11591_11592delAG CDS: c.142_143delAG AnimoAcid: p.Arg48fs	Deletion	Direct sequencing	Kanegane H et al., 2001
393	Deletion	Genomic: g.11605delG CDS: c.156delG AnimoAcid: p.Lys53fs	Deletion	Direct sequencing	Kanegane H et al., 2001
394	Duplications	Genomic: g.23614dupA CDS: c.470dupA AnimoAcid: p.Thr158AspfsX36	Duplications	Direct sequencing, Restriction enzyme analysis	Abo K et al., 1998
395	Substitutions	Genomic: g.29446G>C CDS: c.1349+5G>C AnimoAcid:	Substitutions	SSCP	Narula G et al., 2008
396	Substitutions	Genomic: g.26074G>A CDS: c.777-1G>A AnimoAcid:	Substitutions	Direct sequencing	Kanegane H et al., 2000
397	Substitutions	Genomic: g.31574T>A CDS: c.1610T>A AnimoAcid: p.Val537Glu	Substitutions	Direct sequencing	Kanegane H et al., 2000
398	Substitutions	Genomic: g.36282G>A CDS: c.1922G>A AnimoAcid: p.Arg641His	Substitutions	Direct sequencing	Kanegane H et al., 2000
399	Substitutions	Genomic: g.32898C>A CDS: c.1775C>A AnimoAcid: p.Ser592Tyr	Substitutions	Direct sequencing	Kanegane H et al., 2000
400	Substitutions	Genomic: g.23535G>A CDS: c.392-1G>A AnimoAcid:	Substitutions	Direct sequencing	Kanegane H et al., 2000
401	Deletion	Genomic: g.25523_25526delTGAG CDS: c.642_645delTGAG AnimoAcid: p.Glu215X	Deletion	Direct sequencing	Kanegane H et al., 2000
402	Substitutions	Genomic: g.11023G>A CDS: c.83G>A AnimoAcid: p.Arg28His	Substitutions	Direct sequencing	Sigmon JR et al., 2008
403	Substitutions	Genomic: g.29315T>C CDS: c.1223T>C AnimoAcid: p.Leu408Pro	Substitutions	Direct sequencing	Sigmon JR et al., 2008
404	Substitutions	Genomic: g.30109T>C CDS: c.1502T>C AnimoAcid: p.Met501Thr	Substitutions	Direct sequencing, SSCP	Tani SM et al., 2002
405	Substitutions	Genomic: g.25581C>T CDS: c.700C>T AnimoAcid: p.Gln234X	Substitutions	Direct sequencing, SSCP	Tani SM et al., 2002
406	Substitutions	Genomic: g.24050C>T CDS: c.586C>T AnimoAcid: p.Gln196X	Substitutions	Direct sequencing, SSCP	Tani SM et al., 2002
407	Substitutions	Genomic: g.32961G>A CDS: c.1838G>A AnimoAcid: p.Gly613Asp	Substitutions	Direct sequencing, SSCP	Tani SM et al., 2002
408	Substitutions	Genomic: g.11023G>T CDS: c.83G>T AnimoAcid: p.Arg28Leu	Substitutions	Direct sequencing, SSCP	Tani SM et al., 2002
409	Substitutions	Genomic: g.27904A>C CDS: c.1091A>C AnimoAcid: p.His364Pro	Substitutions	Direct sequencing, SSCP	Tani SM et al., 2002
410	Substitutions	Genomic: g.10977C>T CDS: c.37C>T AnimoAcid: p.Arg13X	Substitutions	Direct sequencing, SSCP	Tani SM et al., 2002
411	Substitutions	Genomic: g.30174G>C CDS: c.1566+1G>C AnimoAcid:	Substitutions	Direct sequencing, SSCP	Tani SM et al., 2002
412	Substitutions	Genomic: g.29442G>A CDS: c.1349+1G>A AnimoAcid:	Substitutions	Direct sequencing, SSCP	Tani SM et al., 2002
413	Substitutions	Genomic: g.10972T>C CDS: c.32T>C AnimoAcid: p.Leu11Pro	Substitutions	Direct sequencing, PCR based assay	Wang Y et al., 2009
414	Substitutions	Genomic: g.10979G>T CDS: c.39G>T AnimoAcid: p.Arg13X	Substitutions	Direct sequencing, PCR based assay	Wang Y et al., 2009
415	Substitutions	Genomic: g.11024C>T CDS: c.84C>T AnimoAcid: p.Arg28Cys	Substitutions	Direct sequencing, PCR based assay	Wang Y et al., 2009
416	Substitutions	Genomic: g.16208G>A CDS: c.372G>A AnimoAcid: p.Trp124X	Substitutions	Direct sequencing, PCR based assay	Wang Y et al., 2009
417	Substitutions	Genomic: g.25583C>T CDS: c.702C>T AnimoAcid: p.Gln234X	Substitutions	Direct sequencing, PCR based assay	Wang Y et al., 2009
418	Substitutions	Genomic: g.26881G>A CDS: c.843G>A AnimoAcid: p.Trp281X	Substitutions	Direct sequencing, PCR based assay	Wang Y et al., 2009
419	Substitutions	Genomic: g.27812C>T CDS: c.999C>T AnimoAcid: p.His333Trp	Substitutions	Direct sequencing, PCR based assay	Wang Y et al., 2009
420	Substitutions	Genomic: g.27877T>A CDS: c.1064T>A AnimoAcid: p.Ile355Asn	Substitutions	Direct sequencing, PCR based assay	Wang Y et al., 2009
421	Substitutions	Genomic: g.30165C>T CDS: c.1558C>T AnimoAcid: p.Arg520X	Substitutions	Fluorescent sequencing, PCR based assay	Wang Y et al., 2009
422	Substitutions	Genomic: g.31538G>A CDS: c.1574G>A AnimoAcid: p.Arg525Gln	Substitutions	Direct sequencing, PCR based assay	Wang Y et al., 2009
423	Substitutions	Genomic: g.32237G>A CDS: c.1632G>A AnimoAcid: p.Arg544Lys	Substitutions	Direct sequencing, PCR based assay	Wang Y et al., 2009
424	Substitutions	Genomic: g.32290G>T CDS: c.1685G>T AnimoAcid: p.Arg562Leu	Substitutions	Dideoxy fingerprinting, PCR based assay	Wang Y et al., 2009
425	Substitutions	Genomic: g.32891A>T CDS: c.1768A>T AnimoAcid: p.Ile590Phe	Substitutions	Fluorescent sequencing, PCR based assay	Wang Y et al., 2009
426	Substitutions	Genomic: g.10942T>C CDS: c.2T>C AnimoAcid: p.Met1Thr	Substitutions	Direct sequencing, Restriction enzyme analysis	Bykowsky MJ et al., 1996
427	Substitutions	Genomic: g.11056A>C CDS: c.116A>C AnimoAcid: p.Tyr39Ser	Substitutions	Direct sequencing, NIRCA	Orlandi P et al., 2000
428	Substitutions	Genomic: g.30142T>C CDS: c.1535T>C AnimoAcid: p.Leu512Pro	Substitutions	Direct sequencing, NIRCA	Orlandi P et al., 2000
429	Substitutions	Genomic: g.30142T>A CDS: c.1535T>A AnimoAcid: p.Leu512Gln	Substitutions	Dideoxy fingerprinting, NIRCA	Orlandi P et al., 2000
430	Substitutions	Genomic: g.31594A>G CDS: c.1630A>G AnimoAcid: p.Arg544Gly	Substitutions	Direct sequencing, NIRCA	Orlandi P et al., 2000
431	Substitutions	Genomic: g.32338C>A CDS: c.1733C>A AnimoAcid: p.Ser578Tyr	Substitutions	Direct sequencing, NIRCA	Orlandi P et al., 2000
432	Substitutions	Genomic: g.32888G>A CDS: c.1765G>A AnimoAcid: p.Glu589Lys	Substitutions	Direct sequencing, NIRCA	Orlandi P et al., 2000
433	Substitutions	Genomic: g.26076C>T CDS: c.778C>T AnimoAcid: p.Gln260X	Substitutions	Direct sequencing, NIRCA	Orlandi P et al., 2000
434	Deletion	Genomic: g.30074_30077delGCGC CDS: c.1467_1470delGCGC AnimoAcid: p.Met489IlefsX10	Deletion	Direct sequencing, NIRCA	Orlandi P et al., 2000
435	Insertion	Genomic: g.33028_33029insTTTTAG CDS: c.1905_1906insTTTTAG AnimoAcid: p.Glu636fs	Insertion	Direct sequencing, NIRCA	Orlandi P et al., 2000
436	Substitutions	Genomic: g.32290G>C CDS: c.1685G>C AnimoAcid: p.Arg562Pro	Substitutions	Direct sequencing, SSCP	Curtis SK et al., 2000
437	Substitutions	Genomic: g.32895A>C CDS: c.1772A>C AnimoAcid: p.Tyr591Ser	Substitutions	Direct sequencing, PCR based assay	Wang Y et al., 2009
438	Substitutions	Genomic: g.32905G>A CDS: c.1782G>A AnimoAcid: p.Gly594Glu	Substitutions	Direct sequencing, PCR based assay	Wang Y et al., 2009
439	Substitutions	Genomic: g.32917T>G CDS: c.1794T>G AnimoAcid: p.Tyr598X	Substitutions	Direct sequencing, PCR based assay	Wang Y et al., 2009
440	Substitutions	Genomic: g.32969C>T CDS: c.1846C>T AnimoAcid: p.Leu616Phe	Substitutions	Direct sequencing, PCR based assay	Wang Y et al., 2009
441	Substitutions	Genomic: g.27896C>G CDS: c.1083C>G AnimoAcid: p.Tyr361X	Substitutions	Direct sequencing, PCR based assay	Wang Y et al., 2009
442	Deletion	Genomic: g.16176_16184delTTCTCCCC CDS: c.340_347delTTCTCCCC AnimoAcid: p.Phe114fsX1	Deletion	PCR based assay	Wang Y et al., 2009
443	Substitutions	Genomic: g.23983A>G CDS: c.521-2A>G AnimoAcid:	Substitutions	Direct sequencing, PCR based assay	Wang Y et al., 2009
444	Substitutions	Genomic: g.32872A>T CDS: c.1751-2A>T AnimoAcid:	Substitutions	Direct sequencing, PCR based assay	Wang Y et al., 2009
445	Substitutions	Genomic: g.23605G>C CDS: c.461G>C AnimoAcid: p.Cys154Ser	Substitutions	Dideoxy fingerprinting	Vihinen M et al., 1997
446	Substitutions	Genomic: g.23607T>G CDS: c.463T>G AnimoAcid: p.Cys155Gly	Substitutions	Dideoxy fingerprinting	Vihinen M et al., 1997
447	Substitutions	Genomic: g.24050C>T CDS: c.586C>T AnimoAcid: p.Gln196X	Substitutions	Direct sequencing, SSCP	Rodriguez MC et al., 2001
448	Substitutions	Genomic: g.25627T>A CDS: c.746T>A AnimoAcid: p.Leu249X	Substitutions	Direct sequencing, SSCP	Rodriguez MC et al., 2001
449	Substitutions	Genomic: g.26900C>T CDS: c.862C>T AnimoAcid: p.Arg288Trp	Substitutions	Direct sequencing, SSCP	Rodriguez MC et al., 2001
450	Substitutions	Genomic: g.27896C>A CDS: c.1083C>A AnimoAcid: p.Tyr361X	Substitutions	Direct sequencing, SSCP	Rodriguez MC et al., 2001
451	Substitutions	Genomic: g.28661A>C CDS: c.1122A>C AnimoAcid: p.Lys374Asn	Substitutions	Direct sequencing, SSCP	Rodriguez MC et al., 2001
452	Substitutions	Genomic: g.29380A>G CDS: c.1288A>G AnimoAcid: p.Lys430Glu	Substitutions	Direct sequencing	Rodriguez MC et al., 2001
453	Substitutions	Genomic: g.30003A>T CDS: c.1396A>T AnimoAcid: p.Lys466X	Substitutions	Direct sequencing	Rodriguez MC et al., 2001
454	Substitutions	Genomic: g.30142T>C CDS: c.1535T>C AnimoAcid: p.Leu512Pro	Substitutions	Direct sequencing	Rodriguez MC et al., 2001
455	Substitutions	Genomic: g.31594A>G CDS: c.1630A>G AnimoAcid: p.Arg544Gly	Substitutions	Direct sequencing, SSCP	Rodriguez MC et al., 2001
456	Substitutions	Genomic: g.32237G>T CDS: c.1632G>T AnimoAcid: p.Arg544Ser	Substitutions	Direct sequencing, SSCP	Rodriguez MC et al., 2001
457	Substitutions	Genomic: g.32301C>T CDS: c.1696C>T AnimoAcid: p.Pro566Ser	Substitutions	Direct sequencing	Rodriguez MC et al., 2001
458	Substitutions	Genomic: g.32957C>T CDS: c.1834C>T AnimoAcid: p.Gln612X	Substitutions	Direct sequencing	Rodriguez MC et al., 2001
459	Duplications	Genomic: g.23548_23557dupACAGTGATCT CDS: c.404_413dupACAGTGATCT AnimoAcid: p.Val139GlufsX2	Duplications	Direct sequencing, PCR based assay	Wang Y et al., 2009
460	Deletion-Insertion	Genomic: g.25537_25542delTTGTGGinsCC CDS: c.656_661delTTGTGGinsCC AnimoAcid: p.Val219AlafsX9	Deletion-Insertion	Direct sequencing, SSCP	Rodriguez MC et al., 2001
461	Deletion-Insertion	Genomic: g.25534_25535delinsAGT CDS: c.653_654delinsAGT AnimoAcid: p.Lys218CysfsX6	Deletion-Insertion	Direct sequencing, SSCP	Rodriguez MC et al., 2001
462	Insertion	Genomic: g.32319_32320insTA CDS: c.1714_1715insTA AnimoAcid: p.Ser572IlefsX16	Insertion	Direct sequencing, SSCP	Rodriguez MC et al., 2001
463	Deletion	Genomic: g.32957delC CDS: c.1834delC AnimoAcid: p.Gln612LysfsX37	Deletion	Direct sequencing	Rodriguez MC et al., 2001
464	Insertion	Genomic: g.31569insT CDS: c.1605insT AnimoAcid: p.Lys536fs	Insertion	Direct sequencing, PCR based assay	Wang Y et al., 2009
465	Insertion	Genomic: g.25472_25473insTACATAG CDS: c.591_592insTACATAG AnimoAcid: p.Leu198TyrfsX9	Insertion	Direct sequencing, PCR based assay	Wang Y et al., 2009
466	Substitutions	Genomic: g.10977C>T CDS: c.37C>T AnimoAcid: p.Arg13X	Substitutions	Direct sequencing, PCR based assay	Speletas M et al., 2001
467	Substitutions	Genomic: g.27822T>G CDS: c.1009T>G AnimoAcid: p.Cys337Gly	Substitutions	Direct sequencing, PCR based assay	Speletas M et al., 2001
468	Deletion	Genomic: g.32887_32889delGGA CDS: c.1764_1766delGGA AnimoAcid: p.Trp588del	Deletion	Direct sequencing, PCR based assay	Wang Y et al., 2009
469	Substitutions	Genomic: g.27850T>G CDS: c.1037T>G AnimoAcid: p.Leu346Arg	Substitutions	Direct sequencing, PCR based assay	Speletas M et al., 2001
470	Substitutions	Genomic: g.29380A>G CDS: c.1288A>G AnimoAcid: p.Lys430Glu	Substitutions	Direct sequencing, PCR based assay	Speletas M et al., 2001
471	Substitutions	Genomic: g.29962T>C CDS: c.1355T>C AnimoAcid: p.Leu452Pro	Substitutions	Direct sequencing, PCR based assay	Speletas M et al., 2001
472	Substitutions	Genomic: g.36282G>A CDS: c.1922G>A AnimoAcid: p.Arg641His	Substitutions	Direct sequencing, PCR based assay	Speletas M et al., 2001
473	Deletion	Genomic: g.23575delC CDS: c.431delC AnimoAcid: p.Pro144fs	Deletion	Direct sequencing	Sakamoto M et al., 2001
474	Substitutions	Genomic: g.32235A>T CDS: c.1632-2A>T AnimoAcid:	Substitutions	Direct sequencing, PCR based assay	Wang Y et al., 2009
475	Deletion	Genomic: g.25522_25523delTG CDS: c.641_642delTG AnimoAcid: p.Ser214fs	Deletion	Direct sequencing, PCR based assay	Martin S et al., 2001
476	Substitutions	Genomic: g.23669G>A CDS: c.520+5G>A AnimoAcid:	Substitutions	Direct sequencing, SSCP	Rodriguez MC et al., 2001
477	Substitutions	Genomic: g.26933G>T CDS: c.894+1G>T AnimoAcid:	Substitutions	Direct sequencing	Rodriguez MC et al., 2001
478	Substitutions	Genomic: g.168G>A CDS: AnimoAcid:	Substitutions	Direct sequencing, SSCP	Jo EK et al., 2001
479	Substitutions	Genomic: g.11023G>A CDS: c.83G>A AnimoAcid: p.Arg28His	Substitutions	Direct sequencing, SSCP	Wood PM et al., 2001
480	Deletion	Genomic: g.29311_29313delGAG CDS: c.1219_1221delGAG AnimoAcid: p.Glu407del	Deletion	Direct sequencing	Shabestari MS et al., 2008
481	Substitutions	Genomic: g.11023G>A CDS: c.83G>A AnimoAcid: p.Arg28His	Substitutions	Direct sequencing, SSCP	Danielian S et al., 2003
482	Substitutions	Genomic: g.11082G>A CDS: c.141+1G>A AnimoAcid:	Substitutions	Direct sequencing, SSCP	Danielian S et al., 2003
483	Substitutions	Genomic: g.11092C>T CDS: c.141+11C>T AnimoAcid:	Substitutions	Direct sequencing, SSCP	Danielian S et al., 2003
484	Deletion	Genomic: g.11627_11629delAAG CDS: c.178_180delAAG AnimoAcid: p.Lys60del	Deletion	Direct sequencing, SSCP	Danielian S et al., 2003
485	Deletion-Insertion	Genomic: g.11663_11664delAAinsT CDS: c.214_215delAAinsT AnimoAcid: p.Asn72PhefsX49	Deletion-Insertion	Direct sequencing, SSCP	Danielian S et al., 2003
486	Insertion	Genomic: g.11664_11665insA CDS: c.215_216insA AnimoAcid: p.Asn72LysfsX13	Insertion	Direct sequencing, SSCP	Danielian S et al., 2003
487	Substitutions	Genomic: g.16144A>T CDS: c.310-2A>T AnimoAcid:	Substitutions	Direct sequencing, SSCP	Danielian S et al., 2003
488	Substitutions	Genomic: g.24041G>T CDS: c.577G>T AnimoAcid: p.Glu193X	Substitutions	Direct sequencing, SSCP	Danielian S et al., 2003
489	Substitutions	Genomic: g.25644C>T CDS: c.763C>T AnimoAcid: p.Arg255X	Substitutions	Direct sequencing, SSCP	Danielian S et al., 2003
490	Deletion	Genomic: g.26136_26139delGAGT CDS: c.838_841delGAGT AnimoAcid: p.Glu280fs	Deletion	Direct sequencing, SSCP	Danielian S et al., 2003
491	Substitutions	Genomic: g.26927C>T CDS: c.889C>T AnimoAcid: p.Gln297X	Substitutions	Direct sequencing, SSCP	Danielian S et al., 2003
492	Substitutions	Genomic: g.27556G>A CDS: c.922G>A AnimoAcid: p.Arg307Lys	Substitutions	Direct sequencing, SSCP	Danielian S et al., 2003
493	Substitutions	Genomic: g.27586T>C CDS: c.952T>C AnimoAcid: p.Ser318Pro	Substitutions	Direct sequencing, SSCP	Danielian S et al., 2003
494	Substitutions	Genomic: g.28650T>C CDS: c.1111T>C AnimoAcid: p.Ser371Pro	Substitutions	Direct sequencing, SSCP	Danielian S et al., 2003
495	Substitutions	Genomic: g.30096C>T CDS: c.1489C>T AnimoAcid: p.Gln497X	Substitutions	Direct sequencing, SSCP	Danielian S et al., 2003
496	Substitutions	Genomic: g.30165C>G CDS: c.1558C>G AnimoAcid: p.Arg520Gly	Substitutions	Direct sequencing, SSCP	Danielian S et al., 2003
497	Substitutions	Genomic: g.30166G>A CDS: c.1559G>A AnimoAcid: p.Arg520Gln	Substitutions	Direct sequencing, SSCP	Danielian S et al., 2003
498	Deletion	Genomic: g.31519_31522delTTTG CDS: c.1567-12_1567-9delTTTG AnimoAcid:	Deletion	Direct sequencing, SSCP	Danielian S et al., 2003
499	Substitutions	Genomic: g.31576T>C CDS: c.1612T>C AnimoAcid: p.Ser538Pro	Substitutions	Direct sequencing, SSCP	Danielian S et al., 2003
500	Substitutions	Genomic: g.31586G>A CDS: c.1622G>A AnimoAcid: p.Gly541Asp	Substitutions	Direct sequencing, SSCP	Danielian S et al., 2003
501	Substitutions	Genomic: g.31589T>C CDS: c.1625T>C AnimoAcid: p.Leu542Pro	Substitutions	Direct sequencing, SSCP	Danielian S et al., 2003
502	Substitutions	Genomic: g.32289C>T CDS: c.1684C>T AnimoAcid: p.Arg562Trp	Substitutions	Direct sequencing, SSCP	Danielian S et al., 2003
503	Substitutions	Genomic: g.32346T>C CDS: c.1741T>C AnimoAcid: p.Trp581Arg	Substitutions	Direct sequencing, SSCP	Danielian S et al., 2003
504	Substitutions	Genomic: g.32886G>A CDS: c.1763G>A AnimoAcid: p.Trp588X	Substitutions	Direct sequencing, SSCP	Danielian S et al., 2003
505	Substitutions	Genomic: g.32958A>C CDS: c.1835A>C AnimoAcid: p.Gln612Pro	Substitutions	Direct sequencing, SSCP	Danielian S et al., 2003
506	Insertion	Genomic: g.32972_32973insCT CDS: c.1849_1850insCT AnimoAcid: p.Tyr617fs	Insertion	Direct sequencing, SSCP	Danielian S et al., 2003
507	Substitutions	Genomic: g.32991C>T CDS: c.1868C>T AnimoAcid: p.Ser623Leu	Substitutions	Direct sequencing, SSCP	Danielian S et al., 2003
508	Substitutions	Genomic: g.33024G>C CDS: c.1901G>C AnimoAcid: p.Trp634Ser	Substitutions	Direct sequencing, SSCP	Danielian S et al., 2003
509	Deletion	Genomic: g.25489delC CDS: c.608delC AnimoAcid: p.Pro203ArgfsX14	Deletion	Direct sequencing, SSCP	Danielian S et al., 2003
510	Deletion	Genomic: g.29295_29298delCCTG CDS: c.1203_1206delCCTG AnimoAcid: p.Asp401GlufsX4	Deletion	Direct sequencing, SSCP	Danielian S et al., 2003
511	Deletion	Genomic: g.32891delA CDS: c.1768delA AnimoAcid: p.Ile590fs	Deletion	Direct sequencing, SSCP	Danielian S et al., 2003
512	Substitutions	Genomic: g.30174G>T CDS: c.1566+1G>T AnimoAcid:	Substitutions	Direct sequencing, NIRCA	Moschese V et al., 2000
513	Substitutions	Genomic: g.32289C>T CDS: c.1684C>T AnimoAcid: p.Arg562Trp	Substitutions	Fluorescent sequencing	Noordzij JG et al., 2002
514	Substitutions	Genomic: g.30134G>A CDS: c.1527G>A AnimoAcid: p.Met509Ile	Substitutions	Fluorescent sequencing	Noordzij JG et al., 2002
515	Substitutions	Genomic: g.32883T>C CDS: c.1760T>C AnimoAcid: p.Met587Thr	Substitutions	Fluorescent sequencing	Noordzij JG et al., 2002
516	Substitutions	Genomic: g.30033T>G CDS: c.1426T>G AnimoAcid: p.Tyr476Asp	Substitutions	Fluorescent sequencing	Noordzij JG et al., 2002
517	Substitutions	Genomic: g.10943G>T CDS: c.3G>T AnimoAcid: p.Met1Ile	Substitutions	Fluorescent sequencing	Noordzij JG et al., 2002
518	Substitutions	Genomic: g.30133T>C CDS: c.1526T>C AnimoAcid: p.Met509Thr	Substitutions	Fluorescent sequencing	Noordzij JG et al., 2002
519	Substitutions	Genomic: g.32978C>T CDS: c.1855C>T AnimoAcid: p.Pro619Ser	Substitutions	Fluorescent sequencing	Noordzij JG et al., 2002
520	Deletion	Genomic: g.24010delG CDS: c.546delG AnimoAcid: p.Lys183ArgfsX16	Deletion	Fluorescent sequencing	Noordzij JG et al., 2002
521	Deletion	Genomic: g.11050_11051delTC CDS: c.110_111delTC AnimoAcid: p.Ser38LeufsX3	Deletion	Fluorescent sequencing	Noordzij JG et al., 2002
522	Insertion	Genomic: g.11666_11667insA CDS: c.217_218insA AnimoAcid: p.Pro73HisfsX12	Insertion	Fluorescent sequencing	Noordzij JG et al., 2002
523	Deletion	Genomic: g.25523_25524delTG CDS: c.642_643delTG AnimoAcid: p.Ser214ArgfsX10	Deletion	Fluorescent sequencing	Noordzij JG et al., 2002
524	Substitutions	Genomic: g.30062C>A CDS: c.1455C>A AnimoAcid: p.Tyr485X	Substitutions	Fluorescent sequencing	Noordzij JG et al., 2002
525	Substitutions	Genomic: g.29367C>A CDS: c.1275C>A AnimoAcid: p.Tyr425X	Substitutions	Fluorescent sequencing	Noordzij JG et al., 2002
526	Substitutions	Genomic: g.25644C>T CDS: c.763C>T AnimoAcid: p.Arg255X	Substitutions	Fluorescent sequencing	Noordzij JG et al., 2002
527	Substitutions	Genomic: g.11689G>A CDS: c.240G>A AnimoAcid: p.Pro80fs	Substitutions	Fluorescent sequencing	Noordzij JG et al., 2002
528	Substitutions	Genomic: g.31529A>C CDS: c.1567-2A>C AnimoAcid: p.Ala523ValfsX5	Substitutions	Fluorescent sequencing	Noordzij JG et al., 2002
529	Substitutions	Genomic: g.10995A>T CDS: c.55A>T AnimoAcid: p.Lys19X	Substitutions	Direct sequencing, NIRCA	Moschese V et al., 2000
530	Substitutions	Genomic: g.11023G>A CDS: c.83G>A AnimoAcid: p.Arg28His	Substitutions	Direct sequencing, NIRCA	Moschese V et al., 2000
531	Deletion	Genomic: g.23546delC CDS: c.402delC AnimoAcid: p.Tyr134X	Deletion	Direct sequencing, NIRCA	Moschese V et al., 2000
532	Duplications	Genomic: g.24020dupA CDS: c.556dupA AnimoAcid: p.Pro187AlafsX7	Duplications	Direct sequencing, NIRCA	Moschese V et al., 2000
533	Substitutions	Genomic: g.11056A>C CDS: c.116A>C AnimoAcid: p.Tyr39Ser	Substitutions	Direct sequencing, NIRCA	Moschese V et al., 2000
534	Duplications	Genomic: g.23987dupT CDS: c.523dupT AnimoAcid: p.Leu175PhefsX19	Duplications	Direct sequencing, NIRCA	Moschese V et al., 2000
535	Substitutions	Genomic: g.168G>T CDS: AnimoAcid:	Substitutions	Direct sequencing	Shin DM et al., 2008
536	Substitutions	Genomic: g.168G>A CDS: AnimoAcid:	Substitutions	Direct sequencing	Shin DM et al., 2008
537	Substitutions	Genomic: g.169T>G CDS: AnimoAcid:	Substitutions	Direct sequencing	Shin DM et al., 2008
538	Deletion	Genomic: g.26107delC CDS: c.809delC AnimoAcid: p.Thr270fs	Deletion	Direct sequencing, SSCP	Staehelin F et al., 2000
539	Substitutions	Genomic: g.25644C>T CDS: c.763C>T AnimoAcid: p.Arg255X	Substitutions	Direct sequencing, NIRCA	Moschese V et al., 2000
540	Substitutions	Genomic: g.26915C>T CDS: c.877C>T AnimoAcid: p.Gln293X	Substitutions	Direct sequencing, NIRCA	Moschese V et al., 2000
541	Substitutions	Genomic: g.26076C>T CDS: c.778C>T AnimoAcid: p.Gln260X	Substitutions	Direct sequencing, NIRCA	Moschese V et al., 2000
542	Deletion	Genomic: g.30074_30077delGCGC CDS: c.1467_1470delGCGC AnimoAcid: p.Met489IlefsX9	Deletion	Direct sequencing, NIRCA	Moschese V et al., 2000
543	Substitutions	Genomic: g.30124G>A CDS: c.1517G>A AnimoAcid: p.Cys506Tyr	Substitutions	Direct sequencing, NIRCA	Moschese V et al., 2000
544	Substitutions	Genomic: g.30142T>C CDS: c.1535T>C AnimoAcid: p.Leu512Pro	Substitutions	Direct sequencing, NIRCA	Moschese V et al., 2000
545	Substitutions	Genomic: g.30142T>A CDS: c.1535T>A AnimoAcid: p.Leu512Gln	Substitutions	Direct sequencing, NIRCA	Moschese V et al., 2000
546	Substitutions	Genomic: g.31538G>C CDS: c.1574G>C AnimoAcid: p.Arg525Pro	Substitutions	Direct sequencing, NIRCA	Moschese V et al., 2000
547	Deletion	Genomic: g.31543_31544delTG CDS: c.1579_1580delTG AnimoAcid: p.Cys527fs	Deletion	Direct sequencing, NIRCA	Moschese V et al., 2000
548	Substitutions	Genomic: g.31594A>G CDS: c.1630A>G AnimoAcid: p.Arg544Gly	Substitutions	Direct sequencing, NIRCA	Moschese V et al., 2000
549	Substitutions	Genomic: g.32338C>A CDS: c.1733C>A AnimoAcid: p.Ser578Tyr	Substitutions	Direct sequencing, NIRCA	Moschese V et al., 2000
550	Substitutions	Genomic: g.32888G>A CDS: c.1765G>A AnimoAcid: p.Glu589Lys	Substitutions	Direct sequencing, NIRCA	Moschese V et al., 2000
551	Substitutions	Genomic: g.32903G>C CDS: c.1780G>C AnimoAcid: p.Gly594Arg	Substitutions	Direct sequencing, NIRCA	Moschese V et al., 2000
552	Substitutions	Genomic: g.32904G>A CDS: c.1781G>A AnimoAcid: p.Gly594Glu	Substitutions	Direct sequencing, NIRCA	Moschese V et al., 2000
553	Insertion	Genomic: g.33028_33029insTTTTAG CDS: c.1905_1906insTTTTAG AnimoAcid: p.Glu636PhefsX2	Insertion	Direct sequencing, NIRCA	Moschese V et al., 2000
554	Substitutions	Genomic: g.36281C>T CDS: c.1921C>T AnimoAcid: p.Arg641Cys	Substitutions	Direct sequencing, NIRCA	Moschese V et al., 2000
555	Deletion	Genomic: g.11627_11629delAAG CDS: c.178_180delAAG AnimoAcid: p.Lys60del	Deletion	Direct sequencing, SSCP	Pienaar S et al., 2000
556	Substitutions	Genomic: g.11022C>T CDS: c.82C>T AnimoAcid: p.Arg28Cys	Substitutions	Direct sequencing	Chan KW et al., 2006
557	Deletion	Genomic: g.25536delG CDS: c.655delG AnimoAcid: p.Val219LeufsX10	Deletion	Direct sequencing	Chan KW et al., 2006
558	Deletion-Insertion	Genomic: g.26895_26905delTGACTCGGAGTinsGGTGGTATTCCAAA CDS: c.857_867delTGACTCGGAGTinsGGTGGTATTCCAAA AnimoAcid: p.Met286_Ser287delinsArgTrpTyrSerLys	Deletion-Insertion	Direct sequencing	Chan KW et al., 2006
559	Deletion	Genomic: g.27556_27557delGA CDS: c.922_923delGA AnimoAcid: p.Asp308LeufsX14	Deletion	Direct sequencing	Chan KW et al., 2006
560	Substitutions	Genomic: g.27852G>C CDS: c.1039G>C AnimoAcid: p.Ala347Pro	Substitutions	Direct sequencing	Chan KW et al., 2006
561	Deletion	Genomic: g.29370delC CDS: c.1278delC AnimoAcid: p.Asp426GlufsX6	Deletion	Direct sequencing	Chan KW et al., 2006
562	Substitutions	Genomic: g.29955A>G CDS: c.1350-2A>G AnimoAcid:	Substitutions	Direct sequencing	Chan KW et al., 2006
563	Substitutions	Genomic: g.30133T>C CDS: c.1526T>C AnimoAcid: p.Met509Thr	Substitutions	Direct sequencing	Chan KW et al., 2006
564	Substitutions	Genomic: g.30165C>T CDS: c.1558C>T AnimoAcid: p.Arg520X	Substitutions	Direct sequencing	Chan KW et al., 2006
565	Substitutions	Genomic: g.32289C>T CDS: c.1684C>T AnimoAcid: p.Arg562Trp	Substitutions	Direct sequencing	Chan KW et al., 2006
566	Substitutions	Genomic: g.32356G>A CDS: c.1750+1G>A AnimoAcid:	Substitutions	Direct sequencing	Chan KW et al., 2006
567	Substitutions	Genomic: g.32873G>C CDS: c.1751-1G>C AnimoAcid:	Substitutions	Direct sequencing	Chan KW et al., 2006
568	Substitutions	Genomic: g.31594A>G CDS: c.1630A>G AnimoAcid: p.Arg544Gly	Substitutions	Direct sequencing	Lin MT et al., 2006
569	Deletion	Genomic: g.11681_11695del15 CDS: c.232_240+6del15 AnimoAcid:	Deletion	Fluorescent sequencing	Noordzij JG et al., 2002
570	Substitutions	Genomic: g.33032G>A CDS: c.1908+1G>A AnimoAcid:	Substitutions	Fluorescent sequencing	Noordzij JG et al., 2002
571	Substitutions	Genomic: g.16228G>T CDS: c.391+1G>T AnimoAcid:	Substitutions	Fluorescent sequencing	Noordzij JG et al., 2002
572	Substitutions	Genomic: g.11690G>C CDS: c.240+1G>C AnimoAcid:	Substitutions	Fluorescent sequencing	Noordzij JG et al., 2002
573	Substitutions	Genomic: g.16144A>G CDS: c.310-2A>G AnimoAcid:	Substitutions	Fluorescent sequencing	Noordzij JG et al., 2002
574	Substitutions	Genomic: g.11038C>T CDS: c.98C>T AnimoAcid: p.Thr33Ile	Substitutions	Direct sequencing	Mitsui T et al., 2006
575	Substitutions	Genomic: g.29348G>A CDS: c.1256G>A AnimoAcid: p.Gly419Glu	Substitutions	Direct sequencing	Kristufek D et al., 2007
576	Substitutions	Genomic: g.32885T>C CDS: c.1762T>C AnimoAcid: p.Trp588Arg	Substitutions	Direct sequencing	Kristufek D et al., 2007
577	Substitutions	Genomic: g.29999C>A CDS: c.1392C>A AnimoAcid: p.Cys464X	Substitutions	Direct sequencing	Kristufek D et al., 2007
578	Deletion	Genomic: g.36281_36287delCGTCCCA CDS: c.1921_1927delCGTCCCA AnimoAcid: p.Arg641LeufsX6	Deletion	Direct sequencing	Kristufek D et al., 2007
579	Substitutions	Genomic: g.16145G>A CDS: c.310-1G>A AnimoAcid: p.Gln103_Val104insSerValPheSerSerThrGln	Substitutions	Direct sequencing	Kristufek D et al., 2007
580	Substitutions	Genomic: g.16228G>A CDS: c.391+1G>A AnimoAcid: p.Val104_Asn130delfsX1	Substitutions	Direct sequencing	Kristufek D et al., 2007
581	Duplications	Genomic: c.-30_391dup421 CDS: AnimoAcid: p.Val131AlafsX4	Duplications	Direct sequencing	Kristufek D et al., 2007
582	Substitutions	Genomic: g.32904G>A CDS: c.1781G>A AnimoAcid: p.Gly594Glu	Substitutions	Direct sequencing, PCR based assay	Vihinen M et al., 1994
583	Substitutions	Genomic: g.32290G>C CDS: c.1685G>C AnimoAcid: p.Arg562Pro	Substitutions	Direct sequencing, PCR based assay	Vihinen M et al., 1994
584	Substitutions	Genomic: g.32350C>T CDS: c.1745C>T AnimoAcid: p.Ala582Val	Substitutions	Direct sequencing, PCR based assay	Vihinen M et al., 1994
585	Substitutions	Genomic: g.30166G>A CDS: c.1559G>A AnimoAcid: p.Arg520Gln	Substitutions	Direct sequencing, PCR based assay	Vihinen M et al., 1994
586	Substitutions	Genomic: g.32889A>G CDS: c.1766A>G AnimoAcid: p.Glu589Gly	Substitutions	Direct sequencing, PCR based assay	Vihinen M et al., 1994
587	Substitutions	Genomic: g.32961G>A CDS: c.1838G>A AnimoAcid: p.Gly613Asp	Substitutions	Direct sequencing, PCR based assay	Vihinen M et al., 1994
588	Substitutions	Genomic: g.11037A>C CDS: c.97A>C AnimoAcid: p.Thr33Pro	Substitutions	Direct sequencing, SSCP	Genevier HC et al., 1994
589	Substitutions	Genomic: g.11023G>A CDS: c.83G>A AnimoAcid: p.Arg28His	Substitutions	Dideoxy fingerprinting, PCR based assay	Vihinen M et al., 1995
590	Substitutions	Genomic: g.11037A>C CDS: c.97A>C AnimoAcid: p.Thr33Pro	Substitutions	Dideoxy fingerprinting, PCR based assay	Vihinen M et al., 1995
591	Substitutions	Genomic: g.11639G>T CDS: c.190G>T AnimoAcid: p.Val64Phe	Substitutions	Dideoxy fingerprinting, PCR based assay	Vihinen M et al., 1995
592	Substitutions	Genomic: c.-193A>G CDS: AnimoAcid:	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
593	Duplications	Genomic: g.10970dupT CDS: c.30dupT AnimoAcid: p.Leu11SerfsX41	Duplications	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
594	Substitutions	Genomic: g.10995A>G CDS: c.55A>G AnimoAcid: p.Lys19Glu	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
595	Substitutions	Genomic: g.11023G>A CDS: c.83G>A AnimoAcid: p.Arg28His	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
596	Duplications	Genomic: g.11623dupT CDS: c.174dupT AnimoAcid: p.Glu59X	Duplications	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
597	Substitutions	Genomic: g.11631T>A CDS: c.182T>A AnimoAcid: p.Ile61Asn	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
598	Substitutions	Genomic: g.11690G>A CDS: c.240+1G>A AnimoAcid:	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
599	Deletion	Genomic: g.11690delG CDS: c.240+1delG AnimoAcid:	Deletion	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
600	Substitutions	Genomic: g.16185A>C CDS: c.349A>C AnimoAcid: p.Thr117Pro	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
601	Substitutions	Genomic: g.16217G>C CDS: c.381G>C AnimoAcid: p.Gln127His	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
602	Duplications	Genomic: g.23594dupG CDS: c.450dupG AnimoAcid: p.Gln151AlafsX43	Duplications	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
603	Substitutions	Genomic: g.23607T>C CDS: c.463T>C AnimoAcid: p.Cys155Arg	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
604	Deletion	Genomic: g.23657_23661delGAATG CDS: c.513_517delGAATG AnimoAcid: p.Asn172LysfsX20	Deletion	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
605	Substitutions	Genomic: g.24053G>C CDS: c.588+1G>C AnimoAcid:	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
606	Duplications	Genomic: g.25607dupT CDS: c.726dupT AnimoAcid: p.Ile243TyrfsX15	Duplications	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
607	Deletion	Genomic: g.25612delT CDS: c.731delT AnimoAcid: p.Leu244TrpfsX33	Deletion	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
608	Substitutions	Genomic: g.25637G>A CDS: c.756G>A AnimoAcid: p.Trp252X	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
609	Substitutions	Genomic: g.26074G>C CDS: c.777-1G>C AnimoAcid:	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
610	Deletion	Genomic: g.26108delT CDS: c.810delT AnimoAcid: p.Glu271LysfsX6	Deletion	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
611	Substitutions	Genomic: g.26922T>C CDS: c.884T>C AnimoAcid: p.Leu295Pro	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
612	Deletion	Genomic: g.27539_27542delGAGG CDS: c.905_908delGAGG AnimoAcid: p.Gly302ValfsX28	Deletion	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
613	Duplications	Genomic: g.27829_27830[3] CDS: c.1016_1017[3] AnimoAcid: p.Pro340HisfsX9	Duplications	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
614	Substitutions	Genomic: g.28644C>T CDS: c.1105C>T AnimoAcid: p.Leu369Phe	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
615	Substitutions	Genomic: g.28653A>G CDS: c.1114A>G AnimoAcid: p.Arg372Gly	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
616	Substitutions	Genomic: g.28674C>T CDS: c.1135C>T AnimoAcid: p.Gln379X	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
617	Substitutions	Genomic: g.29332G>C CDS: c.1240G>C AnimoAcid: p.Gly414Arg	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
618	Substitutions	Genomic: g.29355G>A CDS: c.1263G>A AnimoAcid: p.Trp421X	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
619	Substitutions	Genomic: g.29446G>T CDS: c.1349+5G>T AnimoAcid:	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
620	Substitutions	Genomic: g.29446G>A CDS: c.1349+5G>A AnimoAcid:	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
621	Substitutions	Genomic: g.30124G>A CDS: c.1517G>A AnimoAcid: p.Cys506Tyr	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
622	Substitutions	Genomic: g.30165C>T CDS: c.1558C>T AnimoAcid: p.Arg520X	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
623	Substitutions	Genomic: g.30169A>G CDS: c.1562A>G AnimoAcid: p.Asp521Gly	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
624	Deletion	Genomic: c.1632-?_1908+?del CDS: AnimoAcid:	Deletion	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
625	Substitutions	Genomic: g.30174G>T CDS: c.1566+1G>T AnimoAcid:	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
626	Substitutions	Genomic: g.31538G>A CDS: c.1574G>A AnimoAcid: p.Arg525Gln	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
627	Substitutions	Genomic: g.31537C>T CDS: c.1573C>T AnimoAcid: p.Arg525X	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
628	Substitutions	Genomic: g.32266C>G CDS: c.1661C>G AnimoAcid: p.Ser554X	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
629	Substitutions	Genomic: g.32281T>C CDS: c.1676T>C AnimoAcid: p.Phe559Ser	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
630	Substitutions	Genomic: g.32289C>T CDS: c.1684C>T AnimoAcid: p.Arg562Trp	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
631	Substitutions	Genomic: g.32293G>A CDS: c.1688G>A AnimoAcid: p.Trp563X	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
632	Duplications	Genomic: g.32357dupT CDS: c.1750+2dupT AnimoAcid:	Duplications	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
633	Substitutions	Genomic: g.32904G>A CDS: c.1781G>A AnimoAcid: p.Gly594Glu	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
634	Duplications	Genomic: g.32932_32937dupCAGTGA CDS: c.1809_1814dupCAGTGA AnimoAcid: p.Ser604_Glu605insAspSer	Duplications	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
635	Substitutions	Genomic: g.32978C>A CDS: c.1855C>A AnimoAcid: p.Pro619Thr	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
636	Substitutions	Genomic: g.33000T>G CDS: c.1877T>G AnimoAcid: p.Val626Gly	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
637	Deletion	Genomic: c.1909-?_1980+?del CDS: AnimoAcid:	Deletion	PCR based assay, SSCP	Holinski-Feder E et al., 1998
638	Substitutions	Genomic: g.36282G>A CDS: c.1922G>A AnimoAcid: p.Arg641His	Substitutions	Direct sequencing, SSCP	Holinski-Feder E et al., 1998
639	Substitutions	Genomic: g.14593G>A CDS: c.309+1G>A AnimoAcid:	Substitutions	Direct sequencing	Jin H et al., 1995
640	Substitutions	Genomic: g.15022A>T CDS: c.309+400A>T AnimoAcid:	Substitutions	Direct sequencing	Jin H et al., 1995
641	Substitutions	Genomic: g.25662G>A CDS: c.776+5G>A AnimoAcid:	Substitutions	Direct sequencing	Jin H et al., 1995
642	Substitutions	Genomic: g.26936A>T CDS: c.894+4A>T AnimoAcid:	Substitutions	Direct sequencing	Jin H et al., 1995
643	Substitutions	Genomic: g.31596G>C CDS: c.1631+1G>C AnimoAcid:	Substitutions	Direct sequencing	Jin H et al., 1995
644	Substitutions	Genomic: g.25644C>T CDS: c.763C>T AnimoAcid: p.Arg255X	Substitutions	Direct sequencing, PCR based assay	Jin H et al., 1995
645	Deletion	Genomic: g.24016_24021delAAAAAA CDS: c.552_557delAAAAAA AnimoAcid: p.Lys185_Lys186del	Deletion	Direct sequencing, PCR based assay	Jin H et al., 1995
646	Insertion	Genomic: g.11602_11603insT CDS: c.153_154insT AnimoAcid: p.Lys52X	Insertion	Direct sequencing, PCR based assay	Jin H et al., 1995
647	Deletion	Genomic: g.14524_33535del CDS: c.241_391del AnimoAcid: p.Val131X	Deletion	Direct sequencing, PCR based assay	Jin H et al., 1995
648	Deletion	Genomic: g.23536_27528del CDS: c.392_894del AnimoAcid: p.Val131GlyfsX24	Deletion	Direct sequencing, PCR based assay	Jin H et al., 1995
649	Substitutions	Genomic: g.26915C>T CDS: c.877C>T AnimoAcid: p.Gln293X	Substitutions	Direct sequencing, PCR based assay	Jin H et al., 1995
650	Deletion	Genomic: g.29963_29964delTT CDS: c.1356_1357delTT AnimoAcid: p.Ser453LeufsX3	Deletion	Direct sequencing, PCR based assay	Jin H et al., 1995
651	Substitutions	Genomic: g.36282G>A CDS: c.1922G>A AnimoAcid: p.Arg641His	Substitutions	Direct sequencing, PCR based assay	Jin H et al., 1995
652	Substitutions	Genomic: g.32882A>C CDS: c.1759A>C AnimoAcid: p.Met587Leu	Substitutions	Direct sequencing, PCR based assay	Jin H et al., 1995
653	Substitutions	Genomic: g.32304G>A CDS: c.1699G>A AnimoAcid: p.Glu567Lys	Substitutions	Direct sequencing, PCR based assay	Jin H et al., 1995
654	Deletion	Genomic: g.33017delA CDS: c.1894delA AnimoAcid: p.Ser632fs	Deletion	Direct sequencing, PCR based assay	Jin H et al., 1995
655	Deletion	Genomic: g.33014delT CDS: c.1891delT AnimoAcid: p.Tyr631fs	Deletion	Direct sequencing, PCR based assay	Jin H et al., 1995
656	Substitutions	Genomic: g.30140C>A CDS: c.1533C>A AnimoAcid: p.Tyr511X	Substitutions	Direct sequencing	Jin H et al., 1995
657	Substitutions	Genomic: g.30165C>T CDS: c.1558C>T AnimoAcid: p.Arg520X	Substitutions	Dideoxy fingerprinting, SSCP	Kobayashi S et al., 1996
658	Substitutions	Genomic: g.29413G>T CDS: c.1321G>T AnimoAcid: p.Glu441X	Substitutions	Dideoxy fingerprinting, SSCP	Kobayashi S et al., 1996
659	Substitutions	Genomic: g.26881G>A CDS: c.843G>A AnimoAcid: p.Trp281X	Substitutions	Dideoxy fingerprinting, SSCP	Kobayashi S et al., 1996
660	Substitutions	Genomic: g.26900C>T CDS: c.862C>T AnimoAcid: p.Arg288Trp	Substitutions	Dideoxy fingerprinting, SSCP	Kobayashi S et al., 1996
661	Substitutions	Genomic: g.31595G>A CDS: c.1631G>A AnimoAcid: p.Arg544Lys	Substitutions	Dideoxy fingerprinting, SSCP	Kobayashi S et al., 1996
662	Deletion	Genomic: g.23586_23589delATCG CDS: c.442_445delATCG AnimoAcid: p.Asp149MetfsX27	Deletion	Dideoxy fingerprinting, SSCP	Kobayashi S et al., 1996
663	Deletion	Genomic: g.27581_27582delCA CDS: c.947_948delCA AnimoAcid: p.Thr316SerfsX6	Deletion	Dideoxy fingerprinting, SSCP	Kobayashi S et al., 1996
664	Insertion	Genomic: g.30138_30139insGAAT CDS: c.1531_1532insGAAT AnimoAcid: p.Tyr511X	Insertion	Dideoxy fingerprinting, SSCP	Kobayashi S et al., 1996
665	Substitutions	Genomic: g.11037A>C CDS: c.97A>C AnimoAcid: p.Thr33Pro	Substitutions	Direct sequencing, SSCP	Gaspar HB et al., 1995
666	Insertion	Genomic: g.11657_11658insA CDS: c.208_209insA AnimoAcid: p.Asn72LysfsX13	Insertion	Direct sequencing, SSCP	Gaspar HB et al., 1995
667	Deletion	Genomic: g.16147delT CDS: c.311delT AnimoAcid: p.Val105TyrfsX16	Deletion	Direct sequencing, SSCP	Gaspar HB et al., 1995
668	Deletion	Genomic: g.22894_22973del CDS: c.392_520del AnimoAcid: p.Val131Gly	Deletion	Direct sequencing, SSCP	Gaspar HB et al., 1995
669	Deletion	Genomic: g.25501delC CDS: c.620delC AnimoAcid: p.Ala207GlyfsX10	Deletion	Direct sequencing, SSCP	Gaspar HB et al., 1995
670	Deletion	Genomic: g.25688_26168del CDS: c.777_840del AnimoAcid: p.Gln260_Glu280del	Deletion	Direct sequencing, SSCP	Gaspar HB et al., 1995
671	Deletion	Genomic: g.27537_27539delAGG CDS: c.903_905delAGG AnimoAcid: p.Gly302del	Deletion	Direct sequencing, SSCP	Gaspar HB et al., 1995
672	Substitutions	Genomic: g.30166G>A CDS: c.1559G>A AnimoAcid: p.Arg520Gln	Substitutions	Direct sequencing, SSCP	Gaspar HB et al., 1995
673	Deletion	Genomic: g.32874_33031del CDS: c.1751_1908del AnimoAcid: p.Gly584GlufsX3	Deletion	Direct sequencing, SSCP	Gaspar HB et al., 1995
674	Insertion	Genomic: g.33003_33004insCA CDS: c.1880_1881insCA AnimoAcid: p.Thr628TyrfsX9	Insertion	Direct sequencing, SSCP	Gaspar HB et al., 1995
675	Substitutions	Genomic: g.36281C>T CDS: c.1921C>T AnimoAcid: p.Arg641Cys	Substitutions	Direct sequencing, SSCP	Gaspar HB et al., 1995
676	Substitutions	Genomic: g.33032G>T CDS: c.1908+1G>T AnimoAcid:	Substitutions	Direct sequencing, SSCP	Jo EK et al., 2001
677	Substitutions	Genomic: g.11631T>C CDS: c.182T>C AnimoAcid: p.Ile61Thr	Substitutions	Direct sequencing, SSCP	Jo EK et al., 2001
678	Substitutions	Genomic: g.16232G>A CDS: c.391+5G>A AnimoAcid:	Substitutions	Direct sequencing, SSCP	Jo EK et al., 2001
679	Deletion	Genomic: g.25591_25594delAGGG CDS: c.710_713delAGGG AnimoAcid: p.Lys237MetfsX39	Deletion	Direct sequencing, SSCP	Jo EK et al., 2001
680	Deletion	Genomic: g.11609delG CDS: c.160delG AnimoAcid: p.Gly54ValfsX3	Deletion	Direct sequencing, SSCP	Jo EK et al., 2001
681	Substitutions	Genomic: g.31538G>A CDS: c.1574G>A AnimoAcid: p.Arg525Gln	Substitutions	Direct sequencing	Smith CI et al., 1994
682	Substitutions	Genomic: g.31538G>A CDS: c.1574G>A AnimoAcid: p.Arg525Gln	Substitutions	Direct sequencing	Vetrie D et al., 1993
683	Substitutions	Genomic: g.29380A>G CDS: c.1288A>G AnimoAcid: p.Lys430Glu	Substitutions	Direct sequencing	Vetrie D et al., 1993
684	Substitutions	Genomic: g.27895A>G CDS: c.1082A>G AnimoAcid: p.Tyr361Cys	Substitutions	Direct sequencing	Saffran DC et al., 1994
685	Substitutions	Genomic: g.11014T>C CDS: c.74T>C AnimoAcid: p.Phe25Ser	Substitutions	PCR based assay, SSCP	Vorechovsky I et al., 1995
686	Substitutions	Genomic: g.25496G>T CDS: c.615G>T AnimoAcid: p.Glu205Asp	Substitutions	PCR based assay, SSCP	Vorechovsky I et al., 1995
687	Substitutions	Genomic: g.26127G>T CDS: c.829G>T AnimoAcid: p.Glu277X	Substitutions	PCR based assay, SSCP	Vorechovsky I et al., 1995
688	Substitutions	Genomic: g.26900C>T CDS: c.862C>T AnimoAcid: p.Arg288Trp	Substitutions	PCR based assay, SSCP	Vorechovsky I et al., 1995
689	Substitutions	Genomic: g.28649A>G CDS: c.1110A>G AnimoAcid: p.Ile370Met	Substitutions	PCR based assay, SSCP	Vorechovsky I et al., 1995
690	Substitutions	Genomic: g.30132A>G CDS: c.1525A>G AnimoAcid: p.Met509Val	Substitutions	PCR based assay, SSCP	Vorechovsky I et al., 1995
691	Substitutions	Genomic: g.31537C>T CDS: c.1573C>T AnimoAcid: p.Arg525X	Substitutions	PCR based assay, SSCP, Southern blotting	Vorechovsky I et al., 1995
692	Substitutions	Genomic: g.31538G>C CDS: c.1574G>C AnimoAcid: p.Arg525Pro	Substitutions	PCR based assay, SSCP, Southern blotting	Vorechovsky I et al., 1995
693	Substitutions	Genomic: g.31542C>G CDS: c.1578C>G AnimoAcid: p.Asn526Lys	Substitutions	PCR based assay, SSCP	Vorechovsky I et al., 1995
694	Substitutions	Genomic: g.32289C>T CDS: c.1684C>T AnimoAcid: p.Arg562Trp	Substitutions	PCR based assay, SSCP	Vorechovsky I et al., 1995
695	Substitutions	Genomic: g.32350C>T CDS: c.1745C>T AnimoAcid: p.Ala582Val	Substitutions	PCR based assay, SSCP	Vorechovsky I et al., 1995
696	Substitutions	Genomic: g.32903G>A CDS: c.1780G>A AnimoAcid: p.Gly594Arg	Substitutions	PCR based assay, SSCP	Vorechovsky I et al., 1995
697	Deletion	Genomic: c.1901-?_1980+?del CDS: AnimoAcid:	Deletion	PCR based assay, SSCP	Vorechovsky I et al., 1995
698	Substitutions	Genomic: g.29446G>A CDS: c.1349+5G>A AnimoAcid:	Substitutions	PCR based assay, SSCP	Vorechovsky I et al., 1995
699	Substitutions	Genomic: g.23534A>C CDS: c.392-2A>C AnimoAcid:	Substitutions	PCR based assay, SSCP	Vorechovsky I et al., 1995
700	Substitutions	Genomic: g.27814A>C CDS: c.1001A>C AnimoAcid: p.Tyr334Ser	Substitutions	Direct sequencing, SSCP	Hagemann TL et al., 1994
701	Deletion	Genomic: g.36313delT CDS: c.1953delT AnimoAcid: p.Leu652X	Deletion	PCR based assay, SSCP	Vorechovsky I et al., 1995
702	Substitutions	Genomic: g.30123T>C CDS: c.1516T>C AnimoAcid: p.Cys506Arg	Substitutions	Direct sequencing, SSCP	Hagemann TL et al., 1994
703	Substitutions	Genomic: g.32289C>T CDS: c.1684C>T AnimoAcid: p.Arg562Trp	Substitutions	Direct sequencing, SSCP	Hagemann TL et al., 1994
704	Substitutions	Genomic: g.33012T>A CDS: c.1889T>A AnimoAcid: p.Met630Lys	Substitutions	Direct sequencing, SSCP	Hagemann TL et al., 1994
705	Substitutions	Genomic: g.30165C>T CDS: c.1558C>T AnimoAcid: p.Arg520X	Substitutions	Direct sequencing, SSCP	Hagemann TL et al., 1994
706	Substitutions	Genomic: g.30166G>A CDS: c.1559G>A AnimoAcid: p.Arg520Gln	Substitutions	Direct sequencing, SSCP	Hagemann TL et al., 1994
707	Substitutions	Genomic: g.10941A>G CDS: c.1A>G AnimoAcid: p.0	Substitutions	SSCP	Conley ME et al., 1994
708	Substitutions	Genomic: g.10977C>T CDS: c.37C>T AnimoAcid: p.Arg13X	Substitutions	SSCP	Conley ME et al., 1994
709	Substitutions	Genomic: g.10983C>T CDS: c.43C>T AnimoAcid: p.Gln15X	Substitutions	SSCP	Conley ME et al., 1994
710	Deletion	Genomic: g.11675_11678delGAAA CDS: c.226_229delGAAA AnimoAcid: p.Glu76AspfsX44	Deletion	SSCP	Conley ME et al., 1994
711	Substitutions	Genomic: g.16174T>A CDS: c.338T>A AnimoAcid: p.Val113Asp	Substitutions	SSCP	Conley ME et al., 1994
712	Substitutions	Genomic: g.32355G>A CDS: c.1750G>A AnimoAcid: p.Gly584Arg	Substitutions	Direct sequencing, SSCP	Conley ME et al., 1998
713	Deletion-Insertion	Genomic: g.26079delGinsTTA CDS: c.781delGinsTTA AnimoAcid: p.Glu261fs	Deletion-Insertion	Direct sequencing, SSCP	Conley ME et al., 1994
714	Substitutions	Genomic: g.27895A>G CDS: c.1082A>G AnimoAcid: p.Tyr361Cys	Substitutions	Direct sequencing, SSCP	Conley ME et al., 1994
715	Substitutions	Genomic: g.28664T>G CDS: c.1125T>G AnimoAcid: p.Tyr375X	Substitutions	Direct sequencing, SSCP	Conley ME et al., 1994
716	Deletion	Genomic: g.31545_31548delTTTG CDS: c.1581_1584delTTTG AnimoAcid: p.Cys527fs	Deletion	Direct sequencing, SSCP	Conley ME et al., 1994
717	Substitutions	Genomic: g.31589T>C CDS: c.1625T>C AnimoAcid: p.Leu542Pro	Substitutions	Direct sequencing, SSCP	Conley ME et al., 1994
718	Substitutions	Genomic: g.31596G>T CDS: c.1631+1G>T AnimoAcid:	Substitutions	Direct sequencing, SSCP	Conley ME et al., 1994
719	Substitutions	Genomic: g.30165C>T CDS: c.1558C>T AnimoAcid: p.Arg520X	Substitutions	Direct sequencing, SSCP	Conley ME et al., 1994
720	Substitutions	Genomic: g.32289C>T CDS: c.1684C>T AnimoAcid: p.Arg562Trp	Substitutions	Direct sequencing, SSCP	Conley ME et al., 1994
721	Substitutions	Genomic: g.32346T>C CDS: c.1741T>C AnimoAcid: p.Trp581Arg	Substitutions	Direct sequencing, SSCP	Conley ME et al., 1994
722	Substitutions	Genomic: g.32896C>A CDS: c.1773C>A AnimoAcid: p.Tyr591X	Substitutions	Direct sequencing, SSCP	Conley ME et al., 1994
723	Substitutions	Genomic: g.33012T>A CDS: c.1889T>A AnimoAcid: p.Met630Lys	Substitutions	Direct sequencing, SSCP	Conley ME et al., 1994
724	Substitutions	Genomic: g.36315T>C CDS: c.1955T>C AnimoAcid: p.Leu652Pro	Substitutions	Direct sequencing, SSCP	Conley ME et al., 1994
725	Substitutions	Genomic: g.11023G>A CDS: c.83G>A AnimoAcid: p.Arg28His	Substitutions	Direct sequencing	Zhu Q et al., 1994
726	Substitutions	Genomic: g.11037A>C CDS: c.97A>C AnimoAcid: p.Thr33Pro	Substitutions	Direct sequencing	Zhu Q et al., 1994
727	Substitutions	Genomic: g.25599G>T CDS: c.718G>T AnimoAcid: p.Glu240X	Substitutions	Direct sequencing	Zhu Q et al., 1994
728	Substitutions	Genomic: g.29315T>C CDS: c.1223T>C AnimoAcid: p.Leu408Pro	Substitutions	Direct sequencing	Zhu Q et al., 1994
729	Substitutions	Genomic: g.30113C>A CDS: c.1506C>A AnimoAcid: p.Cys502X	Substitutions	Direct sequencing	Zhu Q et al., 1994
730	Substitutions	Genomic: g.30165C>T CDS: c.1558C>T AnimoAcid: p.Arg520X	Substitutions	Direct sequencing	Zhu Q et al., 1994
731	Substitutions	Genomic: g.30166G>A CDS: c.1559G>A AnimoAcid: p.Arg520Gln	Substitutions	Direct sequencing	Zhu Q et al., 1994
732	Substitutions	Genomic: g.31538G>A CDS: c.1574G>A AnimoAcid: p.Arg525Gln	Substitutions	Direct sequencing	Zhu Q et al., 1994
733	Substitutions	Genomic: g.32889A>G CDS: c.1766A>G AnimoAcid: p.Glu589Gly	Substitutions	Direct sequencing	Zhu Q et al., 1994
734	Substitutions	Genomic: g.32961G>A CDS: c.1838G>A AnimoAcid: p.Gly613Asp	Substitutions	Direct sequencing	Zhu Q et al., 1994
735	Duplications	Genomic: g.33010_36274dup CDS: c.1887_1914dup AnimoAcid: p.Asp639GlufsX11	Duplications	Direct sequencing	Zhu Q et al., 1994
736	Substitutions	Genomic: g.11023G>A CDS: c.83G>A AnimoAcid: p.Arg28His	Substitutions	Dideoxy fingerprinting	de Weers M et al., 1994
737	Substitutions	Genomic: g.26900C>T CDS: c.862C>T AnimoAcid: p.Arg288Trp	Substitutions	Dideoxy fingerprinting	de Weers M et al., 1994
738	Substitutions	Genomic: g.29367C>A CDS: c.1275C>A AnimoAcid: p.Tyr425X	Substitutions	Dideoxy fingerprinting	de Weers M et al., 1994
739	Insertion	Genomic: c.588_589insCTACATAG CDS: AnimoAcid: p.Ile197LeufsX5	Insertion	Dideoxy fingerprinting	de Weers M et al., 1994
740	Insertion	Genomic: c.1908_1909insTTTTAG CDS: AnimoAcid: p.Lys637PhefsX2	Insertion	Dideoxy fingerprinting	de Weers M et al., 1994
741	Substitutions	Genomic: g.33029G>T CDS: c.1906G>T AnimoAcid: p.Glu636X	Substitutions	Direct sequencing, SSCP	Bradley LA et al., 1994
742	Substitutions	Genomic: g.25644C>T CDS: c.763C>T AnimoAcid: p.Arg255X	Substitutions	Direct sequencing, SSCP	Bradley LA et al., 1994
743	Substitutions	Genomic: g.26900C>T CDS: c.862C>T AnimoAcid: p.Arg288Trp	Substitutions	Direct sequencing, SSCP	Bradley LA et al., 1994
744	Substitutions	Genomic: g.27553A>G CDS: c.919A>G AnimoAcid: p.Arg307Gly	Substitutions	Direct sequencing, SSCP	Bradley LA et al., 1994
745	Substitutions	Genomic: g.32943C>A CDS: c.1820C>A AnimoAcid: p.Ala607Asp	Substitutions	Direct sequencing, SSCP	Bradley LA et al., 1994
746	Substitutions	Genomic: g.10942T>C CDS: c.2T>C AnimoAcid: p.Met1Thr	Substitutions	Direct sequencing, SSCP	Bradley LA et al., 1994
747	Substitutions	Genomic: g.10941A>G CDS: c.1A>G AnimoAcid: p.Met1Val	Substitutions	Direct sequencing, SSCP	Bradley LA et al., 1994
748	Insertion	Genomic: g.16145_16146insTCTGTGTTTTCATCGACCCGG CDS: c.309_310insTCTGTGTTTTCATCGACCCGG AnimoAcid: p.Gln103_Val104insSerValPheSerSerThrArg	Insertion	Direct sequencing, SSCP	Bradley LA et al., 1994
749	Insertion	Genomic: g.31532_31533insACTACAG CDS: c.1568_1569insACTACAG AnimoAcid: p.Ala524ArgfsX7	Insertion	Direct sequencing	Okoh MP et al., 2002
750	Insertion	Genomic: g.32947_32948insCA CDS: c.1824_1825insCA AnimoAcid: p.His609fs	Insertion	Direct sequencing	Okoh MP et al., 2002
751	Substitutions	Genomic: g.29379C>A CDS: c.1287C>A AnimoAcid: p.Ile429Asn	Substitutions	Dideoxy fingerprinting, SSCP	Vorechovsky I et al., 1995
752	Substitutions	Genomic: g.30037T>G CDS: c.1430T>G AnimoAcid: p.Met477Arg	Substitutions	Dideoxy fingerprinting, SSCP	Vorechovsky I et al., 1995
753	Deletion-Insertion	Genomic: g.32287_32288delTCinsA CDS: c.1682_1683delTCinsA AnimoAcid: p.Val561AspfsX6	Deletion-Insertion	Dideoxy fingerprinting, SSCP	Vorechovsky I et al., 1995
754	Substitutions	Genomic: g.10969T>A CDS: c.29T>A AnimoAcid: p.Phe10Tyr	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
755	Deletion	Genomic: g.11027_11039delGTTTCTCTTGACC CDS: c.87_99delGTTTCTCTTGACC AnimoAcid: p.Phe30CysfsX23	Deletion	Direct sequencing, PCR based assay	Toth B et al., 2009
756	Substitutions	Genomic: g.11055T>A CDS: c.115T>A AnimoAcid: p.Tyr39Asn	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
757	Deletion	Genomic: g.11082delG CDS: c.141+1delG AnimoAcid:	Deletion	Direct sequencing, PCR based assay	Toth B et al., 2009
758	Substitutions	Genomic: g.14523G>T CDS: c.241-1G>T AnimoAcid:	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
759	Deletion	Genomic: g.23511_24022del CDS: c.392_588del197 AnimoAcid: p.Val131_Gln196del	Deletion	Direct sequencing, PCR based assay	Toth B et al., 2009
760	Substitutions	Genomic: g.23565A>T CDS: c.421A>T AnimoAcid: p.Lys141X	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
761	Substitutions	Genomic: g.23665G>A CDS: c.520+1G>A AnimoAcid:	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
762	Substitutions	Genomic: g.24053G>A CDS: c.588+1G>A AnimoAcid:	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
763	Deletion	Genomic: g.24054delT CDS: c.588+2delT AnimoAcid:	Deletion	Direct sequencing, PCR based assay	Toth B et al., 2009
764	Deletion	Genomic: g.25566_25575delAATGCAAATG CDS: c.685_694delAATGCAAATG AnimoAcid: p.Asn229fsX273	Deletion	Direct sequencing, PCR based assay	Toth B et al., 2009
765	Substitutions	Genomic: g.26074G>A CDS: c.777-1G>A AnimoAcid:	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
766	Substitutions	Genomic: g.26139T>C CDS: c.839+2T>C AnimoAcid:	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
767	Deletion	Genomic: g.26141_26144delAGTA CDS: c.839+4_839+7delAGTA AnimoAcid:	Deletion	Direct sequencing, PCR based assay	Toth B et al., 2009
768	Substitutions	Genomic: g.26919T>C CDS: c.881T>C AnimoAcid: p.Leu294Pro	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
769	Substitutions	Genomic: g.27584T>G CDS: c.950T>G AnimoAcid: p.Val317Gly	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
770	Deletion	Genomic: g.27586_27587delTC CDS: c.952_953delTC AnimoAcid: p.Ser318fsX321	Deletion	Direct sequencing, PCR based assay	Toth B et al., 2009
771	Deletion	Genomic: g.27808_27815delGTCATTAT CDS: c.995_1002delGTCATTAT AnimoAcid: p.His333fsX345	Deletion	Direct sequencing, PCR based assay	Toth B et al., 2009
772	Substitutions	Genomic: g.27877T>A CDS: c.1064T>A AnimoAcid: p.Ile355Asn	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
773	Substitutions	Genomic: g.27900C>T CDS: c.1087C>T AnimoAcid: p.Gln363X	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
774	Substitutions	Genomic: g.27913C>A CDS: c.1100C>A AnimoAcid: p.Ala367Glu	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
775	Deletion	Genomic: g.27916_27926delGTGAGTACCAG CDS: c.1102+1_1102+11delGTGAGTACCAG AnimoAcid:	Deletion	Direct sequencing, PCR based assay	Toth B et al., 2009
776	Substitutions	Genomic: g.28710G>T CDS: c.1171G>T AnimoAcid: p.Gly391X	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
777	Substitutions	Genomic: g.29970G>T CDS: c.1363G>T AnimoAcid: p.Glu455X	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
778	Deletion	Genomic: g.30013delC CDS: c.1406delC AnimoAcid: p.Pro469fsX483	Deletion	Direct sequencing, PCR based assay	Toth B et al., 2009
779	Insertion	Genomic: g.30014_30015insC CDS: c.1407_1408insC AnimoAcid: p.Pro469fsX475	Insertion	Direct sequencing, PCR based assay	Toth B et al., 2009
780	Deletion	Genomic: g.30064_30065delTG CDS: c.1457_1458delTG AnimoAcid: p.Leu486GlnfsX505	Deletion	Direct sequencing, PCR based assay	Toth B et al., 2009
781	Substitutions	Genomic: g.30069G>T CDS: c.1462G>T AnimoAcid: p.Glu488X	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
782	Substitutions	Genomic: g.30087C>T CDS: c.1480C>T AnimoAcid: p.Gln494X	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
783	Substitutions	Genomic: g.30172T>C CDS: c.1565T>C AnimoAcid: p.Leu522Pro	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
784	Substitutions	Genomic: g.30133T>C CDS: c.1526T>C AnimoAcid: p.Met509Thr	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
785	Deletion	Genomic: g.31594delA CDS: c.1630delA AnimoAcid: p.Arg544fsX555	Deletion	Direct sequencing, PCR based assay	Toth B et al., 2009
786	Substitutions	Genomic: g.31595G>C CDS: c.1631G>C AnimoAcid: p.Arg544Thr	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
787	Substitutions	Genomic: g.31600G>T CDS: c.1631+5G>T AnimoAcid:	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
788	Insertion	Genomic: g.32302insT CDS: c.1697insT AnimoAcid: p.Glu567GlyfsX6	Insertion	Direct sequencing, PCR based assay	Toth B et al., 2009
789	Substitutions	Genomic: g.32335A>T CDS: c.1730A>T AnimoAcid: p.Lys577Ile	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
790	Substitutions	Genomic: g.32340G>A CDS: c.1735G>A AnimoAcid: p.Asp579Asn	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
791	Substitutions	Genomic: g.32352T>G CDS: c.1747T>G AnimoAcid: p.Phe583Val	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
792	Substitutions	Genomic: g.32355G>C CDS: c.1750G>C AnimoAcid: p.Gly584Arg	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
793	Substitutions	Genomic: g.32358A>C CDS: c.1750+3A>C AnimoAcid:	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
794	Substitutions	Genomic: g.32969C>G CDS: c.1846C>G AnimoAcid: p.Leu616Val	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
795	Substitutions	Genomic: g.33024G>A CDS: c.1901G>A AnimoAcid: p.Trp634X	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
796	Substitutions	Genomic: g.36281C>G CDS: c.1921C>G AnimoAcid: p.Arg641Gly	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
797	Substitutions	Genomic: g.36291T>A CDS: c.1931T>A AnimoAcid: p.Phe644Tyr	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
798	Substitutions	Genomic: g.36312T>G CDS: c.1952T>G AnimoAcid: p.Ile651Ser	Substitutions	Direct sequencing, PCR based assay	Toth B et al., 2009
799	Substitutions	Genomic: g.33024G>C CDS: c.1901G>C AnimoAcid: p.Trp634Ser	Substitutions	SSCP	Basile N et al., 2009
800	Deletion	Genomic: g.32237_32355del CDS: c.1632_1750del AnimoAcid:	Deletion	SSCP	Basile N et al., 2009
801	Substitutions	Genomic: g.27613G>C CDS: c.974+5G>C AnimoAcid:	Substitutions	SSCP	Basile N et al., 2009
802	Substitutions	Genomic: g.25644C>T CDS: c.763C>T AnimoAcid: p.Arg255X	Substitutions	SSCP	Basile N et al., 2009
803	Substitutions	Genomic: g.27556G>A CDS: c.922G>A AnimoAcid: p.Arg307Lys	Substitutions	SSCP	Basile N et al., 2009
804	Deletion-Insertion	Genomic: g.11663_11664delAAinsT CDS: c.214_215delAAinsT AnimoAcid: p.Asn72PhefsX49	Deletion-Insertion	SSCP	Basile N et al., 2009
805	Substitutions	Genomic: g.30166G>A CDS: c.1559G>A AnimoAcid: p.Arg520Gln	Substitutions	SSCP	Basile N et al., 2009
806	Substitutions	Genomic: g.32236G>A CDS: c.1632-1G>A AnimoAcid:	Substitutions	SSCP	Basile N et al., 2009
807	Substitutions	Genomic: g.11023G>A CDS: c.83G>A AnimoAcid: p.Arg28His	Substitutions	SSCP	Basile N et al., 2009
808	Substitutions	Genomic: g.30096C>T CDS: c.1489C>T AnimoAcid: p.Gln497X	Substitutions	SSCP	Basile N et al., 2009
809	Deletion	Genomic: g.31519_31522delTTTG CDS: c.1567-12_1567-9delTTTG AnimoAcid:	Deletion	SSCP	Basile N et al., 2009
810	Deletion	Genomic: g.11627_11629delAAG CDS: c.178_180delAAG AnimoAcid: p.Lys60del	Deletion	SSCP	Basile N et al., 2009
811	Substitutions	Genomic: g.32289C>T CDS: c.1684C>T AnimoAcid: p.Arg562Trp	Substitutions	SSCP	Basile N et al., 2009
812	Substitutions	Genomic: g.11082G>A CDS: c.141+1G>A AnimoAcid:	Substitutions	SSCP	Basile N et al., 2009
813	Substitutions	Genomic: g.11086G>T CDS: c.141+5G>T AnimoAcid:	Substitutions	SSCP	Basile N et al., 2009
814	Substitutions	Genomic: g.16144A>G CDS: c.310-2A>G AnimoAcid:	Substitutions	SSCP	Basile N et al., 2009
815	Substitutions	Genomic: g.32951A>T CDS: c.1828A>T AnimoAcid: p.Ile610Phe	Substitutions	SSCP	Basile N et al., 2009
816	Substitutions	Genomic: g.32958A>C CDS: c.1835A>C AnimoAcid: p.Gln612Pro	Substitutions	SSCP	Basile N et al., 2009
817	Substitutions	Genomic: g.26901G>A CDS: c.863G>A AnimoAcid: p.Arg288Gln	Substitutions	SSCP	Basile N et al., 2009
818	Substitutions	Genomic: g.32304G>C CDS: c.1699G>C AnimoAcid: p.Glu567Gln	Substitutions	SSCP	Basile N et al., 2009
819	Substitutions	Genomic: g.30133T>C CDS: c.1526T>C AnimoAcid: p.Met509Thr	Substitutions	SSCP	Basile N et al., 2009
820	Substitutions	Genomic: g.30165C>G CDS: c.1558C>G AnimoAcid: p.Arg520Gly	Substitutions	SSCP	Basile N et al., 2009
821	Substitutions	Genomic: g.32991C>T CDS: c.1868C>T AnimoAcid: p.Ser623Leu	Substitutions	SSCP	Basile N et al., 2009
822	Substitutions	Genomic: g.28650T>C CDS: c.1111T>C AnimoAcid: p.Ser371Pro	Substitutions	SSCP	Basile N et al., 2009
823	Substitutions	Genomic: g.31576T>C CDS: c.1612T>C AnimoAcid: p.Ser538Pro	Substitutions	SSCP	Basile N et al., 2009
824	Substitutions	Genomic: g.32346T>C CDS: c.1741T>C AnimoAcid: p.Trp581Arg	Substitutions	SSCP	Basile N et al., 2009
825	Substitutions	Genomic: g.10943G>T CDS: c.3G>T AnimoAcid: p.Met1Ile	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
826	Substitutions	Genomic: g.10981C>A CDS: c.41C>A AnimoAcid: p.Ser14Tyr	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
827	Substitutions	Genomic: g.11022C>T CDS: c.82C>T AnimoAcid: p.Arg28Cys	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
828	Substitutions	Genomic: g.11022C>A CDS: c.82C>A AnimoAcid: p.Arg28Ser	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
829	Substitutions	Genomic: g.11023G>A CDS: c.83G>A AnimoAcid: p.Arg28His	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
830	Substitutions	Genomic: g.11035T>C CDS: c.95T>C AnimoAcid: p.Leu32Ser	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
831	Substitutions	Genomic: g.11050T>C CDS: c.110T>C AnimoAcid: p.Leu37Pro	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
832	Substitutions	Genomic: g.11059A>G CDS: c.119A>G AnimoAcid: p.Tyr40Cys	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
833	Substitutions	Genomic: g.26901G>A CDS: c.863G>A AnimoAcid: p.Arg288Gln	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
834	Substitutions	Genomic: g.27852G>C CDS: c.1039G>C AnimoAcid: p.Ala347Pro	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
835	Substitutions	Genomic: g.29968A>G CDS: c.1361A>G AnimoAcid: p.His454Arg	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
836	Substitutions	Genomic: g.30064T>C CDS: c.1457T>C AnimoAcid: p.Leu486Pro	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
837	Substitutions	Genomic: g.30133T>C CDS: c.1526T>C AnimoAcid: p.Met509Thr	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
838	Substitutions	Genomic: g.31532C>T CDS: c.1568C>T AnimoAcid: p.Ala523Val	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
839	Substitutions	Genomic: g.31534G>C CDS: c.1570G>C AnimoAcid: p.Ala524Pro	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
840	Substitutions	Genomic: g.31595G>A CDS: c.1631G>A AnimoAcid: p.Arg544Lys	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
841	Substitutions	Genomic: g.32289C>T CDS: c.1684C>T AnimoAcid: p.Arg562Trp	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
842	Substitutions	Genomic: g.32350C>A CDS: c.1745C>A AnimoAcid: p.Ala582Asp	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
843	Substitutions	Genomic: g.36281C>T CDS: c.1921C>T AnimoAcid: p.Arg641Cys	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
844	Substitutions	Genomic: g.36285C>G CDS: c.1925C>G AnimoAcid: p.Pro642Arg	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
845	Substitutions	Genomic: g.14583T>G CDS: c.300T>G AnimoAcid: p.Tyr100X	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
846	Substitutions	Genomic: g.25634G>A CDS: c.753G>A AnimoAcid: p.Trp251X	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
847	Substitutions	Genomic: g.25636G>A CDS: c.755G>A AnimoAcid: p.Trp252X	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
848	Substitutions	Genomic: g.27795C>T CDS: c.982C>T AnimoAcid: p.Gln328X	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
849	Substitutions	Genomic: g.29380A>T CDS: c.1288A>T AnimoAcid: p.Lys430X	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
850	Substitutions	Genomic: g.30165C>T CDS: c.1558C>T AnimoAcid: p.Arg520X	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
851	Deletion	Genomic: g.10911_11689del CDS: c.1-30_240del AnimoAcid: p.0	Deletion	Direct sequencing, PCR based assay	Lee PP et al., 2009
852	Deletion	Genomic: g.10985delA CDS: c.45delA AnimoAcid: p.Gln15HisfsX8	Deletion	Direct sequencing, PCR based assay	Lee PP et al., 2009
853	Deletion	Genomic: g.11058_11059delTA CDS: c.118_119delTA AnimoAcid: p.Tyr40X	Deletion	Direct sequencing, PCR based assay	Lee PP et al., 2009
854	Deletion	Genomic: g.11066delT CDS: c.126delT AnimoAcid: p.Tyr42X	Deletion	Direct sequencing, PCR based assay	Lee PP et al., 2009
855	Deletion	Genomic: g.25536delG CDS: c.655delG AnimoAcid: p.Val219LeufsX10	Deletion	Direct sequencing, PCR based assay	Lee PP et al., 2009
856	Deletion	Genomic: g.26115delG CDS: c.817delG AnimoAcid: p.Glu273LysfsX4	Deletion	Direct sequencing, PCR based assay	Lee PP et al., 2009
857	Deletion	Genomic: g.26923delA CDS: c.885delA AnimoAcid: p.Lys296SerfsX35	Deletion	Direct sequencing, PCR based assay	Lee PP et al., 2009
858	Deletion	Genomic: g.27550_27551delGT CDS: c.916_917delGT AnimoAcid: p.Val306GlnfsX16	Deletion	Direct sequencing, PCR based assay	Lee PP et al., 2009
859	Deletion	Genomic: g.27556_27557delGA CDS: c.922_923delGA AnimoAcid: p.Asp308LeufsX14	Deletion	Direct sequencing, PCR based assay	Lee PP et al., 2009
860	Substitutions	Genomic: g.27576A>G CDS: c.942A>G AnimoAcid: p.Gly313fsX6	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
861	Deletion	Genomic: g.27581_27582delCA CDS: c.947_948delCA AnimoAcid: p.Thr316SerfsX6	Deletion	Direct sequencing, PCR based assay	Lee PP et al., 2009
862	Deletion	Genomic: g.29370delC CDS: c.1278delC AnimoAcid: p.Asp426GlufsX5	Deletion	Direct sequencing, PCR based assay	Lee PP et al., 2009
863	Deletion	Genomic: g.32905delG CDS: c.1782delG AnimoAcid: p.Gly594fsX55	Deletion	Direct sequencing, PCR based assay	Lee PP et al., 2009
864	Insertion	Genomic: g.11663_11664insA CDS: c.214_215insA AnimoAcid: p.Asn72fsX13	Insertion	Direct sequencing, PCR based assay	Lee PP et al., 2009
865	Substitutions	Genomic: g.29447T>G CDS: c.1349+6T>G AnimoAcid: p.Met450fsX2	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
866	Deletion-Insertion	Genomic: g.11077_11079delGTGinsTT CDS: c.137_139delGTGinsTT AnimoAcid: p.Arg46fsX11	Deletion-Insertion	Direct sequencing, PCR based assay	Lee PP et al., 2009
867	Deletion-Insertion	Genomic: g.23615_23631delinsATGGTC CDS: c.471_487delinsATGGTC AnimoAcid: p.Gln157fsX34	Deletion-Insertion	Direct sequencing, PCR based assay	Lee PP et al., 2009
868	Deletion-Insertion	Genomic: g.26895_26905delinsGGTGGTATTCCAAA CDS: c.857_867delinsGGTGGTATTCCAAA AnimoAcid: p.Met286_Ser289delinsArgTrpTyrSerLys	Deletion-Insertion	Direct sequencing, PCR based assay	Lee PP et al., 2009
869	Substitutions	Genomic: g.31529A>T CDS: c.1567-2A>T AnimoAcid: p.Ala523ValfsX5	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
870	Substitutions	Genomic: g.164G>A CDS: c.1-10778G>A AnimoAcid:	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
871	Substitutions	Genomic: g.25659T>C CDS: c.776+2T>C AnimoAcid:	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
872	Substitutions	Genomic: g.27527A>C CDS: c.895-2A>C AnimoAcid:	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
873	Substitutions	Genomic: g.27609G>A CDS: c.974+1G>A AnimoAcid:	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
874	Substitutions	Genomic: g.29955A>G CDS: c.1350-2A>G AnimoAcid:	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
875	Substitutions	Genomic: g.31600G>C CDS: c.1631+5G>C AnimoAcid:	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
876	Substitutions	Genomic: g.32356G>A CDS: c.1750+1G>A AnimoAcid:	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
877	Substitutions	Genomic: g.32873G>C CDS: c.1751-1G>C AnimoAcid:	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
878	Substitutions	Genomic: g.32872A>G CDS: c.1751-2A>G AnimoAcid:	Substitutions	Direct sequencing, PCR based assay	Lee PP et al., 2009
879	Deletion	Genomic: g.31519_31522delTTTG CDS: c.1567-12_1567-9delTTTG AnimoAcid:	Deletion	SSCP	Teimourian S et al., 2008
880	Substitutions	Genomic: g.11022C>T CDS: c.82C>T AnimoAcid: p.Arg28Cys	Substitutions	SSCP	Teimourian S et al., 2008
881	Deletion	Genomic: g.29311_29313delGAG CDS: c.1219_1221delGAG AnimoAcid: p.Glu407del	Deletion	SSCP	Teimourian S et al., 2008
882	Deletion	Genomic: g.11663_11664delAA CDS: c.214_215delAA AnimoAcid: p.Asn72fsX39	Deletion	SSCP	Teimourian S et al., 2008
883	Substitutions	Genomic: g.30093C>T CDS: c.1486C>T AnimoAcid: p.Gln496X	Substitutions	SSCP	Teimourian S et al., 2008
884	Substitutions	Genomic: g.29956G>A CDS: c.1350-1G>A AnimoAcid:	Substitutions	SSCP	Teimourian S et al., 2008
885	Substitutions	Genomic: g.11691T>C CDS: c.240+2T>C AnimoAcid:	Substitutions	SSCP	Teimourian S et al., 2008
886	Substitutions	Genomic: g.32256T>C CDS: c.1651T>C AnimoAcid: p.Tyr551His	Substitutions	SSCP	Teimourian S et al., 2008
887	Substitutions	Genomic: g.36311A>G CDS: c.1951A>G AnimoAcid: p.Ile651Thr	Substitutions	SSCP	Teimourian S et al., 2008
888	Deletion	Genomic: g.29306delT CDS: c.1214delT AnimoAcid: p.Leu405X	Deletion	SSCP	Teimourian S et al., 2008
889	Substitutions	Genomic: g.32887G>A CDS: c.1764G>A AnimoAcid: p.Trp588X	Substitutions	SSCP	Teimourian S et al., 2008
890	Substitutions	Genomic: g.25644C>T CDS: c.763C>T AnimoAcid: p.Arg255X	Substitutions	SSCP	Teimourian S et al., 2008
891	Substitutions	Genomic: g.32966C>A CDS: c.1843C>A AnimoAcid: p.Arg615Ser	Substitutions	SSCP	Teimourian S et al., 2008
892	Substitutions	Genomic: g.32969C>T CDS: c.1846C>T AnimoAcid: p.Leu616Phe	Substitutions	SSCP	Teimourian S et al., 2008
893	Substitutions	Genomic: g.23599A>G CDS: c.455A>G AnimoAcid: p.Tyr152Cys	Substitutions	SSCP	Teimourian S et al., 2008
894	Substitutions	Genomic: g.29307G>A CDS: c.1215G>A AnimoAcid: p.Leu405Ile	Substitutions	SSCP	Teimourian S et al., 2008
895	Substitutions	Genomic: g.27916G>A CDS: c.1102+1G>A AnimoAcid:	Substitutions	SSCP	Teimourian S et al., 2008
896	Substitutions	Genomic: g.27518C>A CDS: c.895-11C>A AnimoAcid:	Substitutions	Direct sequencing	Maekawa K et al., 2010
897	Substitutions	Genomic: g.11002C>A CDS: c.62C>A AnimoAcid: p.Ser21X	Substitutions	Direct sequencing, PCR based assay	Zhang ZY et al., 2010
898	Deletion	Genomic: g.14524_14592del CDS: c.241_309del AnimoAcid: p.Arg81_Gln103del	Deletion	Direct sequencing, PCR based assay	Zhang ZY et al., 2010
899	Deletion	Genomic: g.16208delG CDS: c.372delG AnimoAcid: p.Trp124X	Deletion	Direct sequencing, PCR based assay	Zhang ZY et al., 2010
900	Deletion	Genomic: g.23549delC CDS: c.405delC AnimoAcid: p.Asn135LysfsX42	Deletion	Direct sequencing, PCR based assay	Zhang ZY et al., 2010
901	Deletion	Genomic: g.25600delA CDS: c.719delA AnimoAcid: p.Glu240AspfsX37	Deletion	Direct sequencing, PCR based assay	Zhang ZY et al., 2010
902	Substitutions	Genomic: g.25644C>T CDS: c.763C>T AnimoAcid: p.Arg255X	Substitutions	Direct sequencing, PCR based assay	Zhang ZY et al., 2010
903	Substitutions	Genomic: g.30112G>A CDS: c.1505G>A AnimoAcid: p.Cys502Tyr	Substitutions	Direct sequencing, PCR based assay	Zhang ZY et al., 2010
904	Substitutions	Genomic: g.32237G>T CDS: c.1632G>T AnimoAcid: p.Arg544Ser	Substitutions	Direct sequencing, PCR based assay	Zhang ZY et al., 2010
905	Substitutions	Genomic: g.32294G>A CDS: c.1689G>A AnimoAcid: p.Trp563X	Substitutions	Direct sequencing, PCR based assay	Zhang ZY et al., 2010
906	Substitutions	Genomic: g.32352T>C CDS: c.1747T>C AnimoAcid: p.Phe583Leu	Substitutions	Direct sequencing, PCR based assay	Zhang ZY et al., 2010
907	Deletion	Genomic: g.29957_32355del CDS: c.1350_1750del AnimoAcid: p.Asn451GlyfsX15	Deletion	Direct sequencing, PCR based assay	Zhang ZY et al., 2010
908	Deletion	Genomic: g.25470_33031del CDS: c.589_1908del AnimoAcid: p.Ile197_Glu636del	Deletion	Direct sequencing, PCR based assay	Zhang ZY et al., 2010
909	Substitutions	Genomic: g.26139T>C CDS: c.839+2T>C AnimoAcid: p.Gln260_Glu280del	Substitutions	Direct sequencing, PCR based assay	Zhang ZY et al., 2010
910	Substitutions	Genomic: g.29443T>A CDS: c.1349+2T>A AnimoAcid:	Substitutions	Direct sequencing, PCR based assay	Zhang ZY et al., 2010
911	Substitutions	Genomic: g.29955A>G CDS: c.1350-2A>G AnimoAcid: p.[Met450_Asn451ins20, Asn451GlnfsX7, Asn451_Arg544del]	Substitutions	Direct sequencing, PCR based assay	Zhang ZY et al., 2010
912	Substitutions	Genomic: g.31529A>G CDS: c.1567-2A>G AnimoAcid:	Substitutions	Direct sequencing, PCR based assay	Zhang ZY et al., 2010
913	Substitutions	Genomic: g.10943G>T CDS: c.3G>T AnimoAcid: p.0	Substitutions	Direct sequencing	Yip KL et al., 2000
914	Insertion	Genomic: g.11657_11658insA CDS: c.208_209insA AnimoAcid: p.Asn72LysfsX13	Insertion	SSCP	Yip KL et al., 2000
915	Substitutions	Genomic: g.27576A>G CDS: c.942A>G AnimoAcid: p.Lys314fs	Substitutions	Direct sequencing, PCR based assay	Yip KL et al., 2000
916	Substitutions	Genomic: g.36281C>T CDS: c.1921C>T AnimoAcid: p.Arg641Cys	Substitutions	SSCP	Yip KL et al., 2000
917	Deletion	Genomic: g.26923delA CDS: c.885delA AnimoAcid: p.Lys296SerfsX35	Deletion	SSCP	Yip KL et al., 2000
918	Deletion	Genomic: g.(10941_?)_(11689_?)del1500 CDS: c.(1-?)_(240+?)del270 AnimoAcid: p.0	Deletion	Southern blotting	Yip KL et al., 2000
919	Substitutions	Genomic: g.11035T>C CDS: c.95T>C AnimoAcid: p.Leu32Ser	Substitutions	Direct sequencing	Yip KL et al., 2000
920	Substitutions	Genomic: g.29447T>G CDS: c.1349+6T>G AnimoAcid: p.Asn451X	Substitutions	Direct sequencing, PCR based assay	Yip KL et al., 2000
921	Substitutions	Genomic: g.24050C>T CDS: c.586C>T AnimoAcid: p.Gln196X	Substitutions	Direct sequencing, SSCP	Ramalho VD et al., 2010
922	Deletion	Genomic: g.27854delT CDS: c.1041delT AnimoAcid: p.Glu348ArgfsX54	Deletion	Direct sequencing, SSCP	Ramalho VD et al., 2010
923	Substitutions	Genomic: g.27877T>C CDS: c.1064T>C AnimoAcid: p.Ile355Thr	Substitutions	Direct sequencing, SSCP	Ramalho VD et al., 2010
924	Substitutions	Genomic: g.29413G>T CDS: c.1321G>T AnimoAcid: p.Glu441X	Substitutions	Direct sequencing, SSCP	Ramalho VD et al., 2010
925	Insertion	Genomic: g.27606_27607insT CDS: c.972_973insT AnimoAcid: p.Gly325TrpfsX24	Insertion	Direct sequencing, SSCP	Ramalho VD et al., 2010
926	Substitutions	Genomic: g.27611G>T CDS: c.974+3G>T AnimoAcid: p.Lys300ProfsX22	Substitutions	Direct sequencing	Shinomiya N et al., 2000
927	Substitutions	Genomic: g.33032G>T CDS: c.1908+1G>T AnimoAcid: p.Val626_Glu636del	Substitutions	Direct sequencing	Cuccherini B et al., 2000
928	Substitutions	Genomic: g.10972T>C CDS: c.32T>C AnimoAcid: p.Leu11Pro	Substitutions	Direct sequencing	Wang XC et al., 2005
929	Substitutions	Genomic: g.32891A>T CDS: c.1768A>T AnimoAcid: p.Ile590Phe	Substitutions	Direct sequencing	Wang XC et al., 2005
930	Substitutions	Genomic: g.32895A>C CDS: c.1772A>C AnimoAcid: p.Tyr591Ser	Substitutions	Direct sequencing	Wang XC et al., 2005
931	Substitutions	Genomic: g.26880G>A CDS: c.842G>A AnimoAcid: p.Trp281X	Substitutions	Direct sequencing	Wang XC et al., 2005
932	Substitutions	Genomic: g.25581C>T CDS: c.700C>T AnimoAcid: p.Gln234X	Substitutions	Direct sequencing	Wang XC et al., 2005
933	Deletion	Genomic: g.16224delA CDS: c.388delA AnimoAcid: p.Asn130ThrfsX2	Deletion	SSCP	Conley ME et al., 1995
934	Substitutions	Genomic: g.23534A>G CDS: c.392-2A>G AnimoAcid:	Substitutions	SSCP	Conley ME et al., 1995
935	Deletion	Genomic: g.27608delG CDS: c.974delG AnimoAcid: p.Asp326ThrfsX6	Deletion	SSCP	Conley ME et al., 1995
936	Deletion	Genomic: g.11633delA CDS: c.184delA AnimoAcid: p.Thr62LeufsX59	Deletion	SSCP	Conley ME et al., 1995
937	Deletion	Genomic: g.11660delA CDS: c.211delA AnimoAcid: p.Asn72IlefsX49	Deletion	SSCP	Conley ME et al., 1995
938	Duplications	Genomic: g.24020dupA CDS: c.556dupA AnimoAcid: p.Pro187AlafsX7	Duplications	SSCP	Conley ME et al., 1995
939	Deletion	Genomic: g.25533delA CDS: c.652delA AnimoAcid: p.Lys218ArgfsX11	Deletion	SSCP	Conley ME et al., 1995
940	Deletion	Genomic: g.16177_16179delTCT CDS: c.341_343delTCT AnimoAcid: p.Phe114del	Deletion	SSCP	Conley ME et al., 1995
941	Substitutions	Genomic: g.26141A>G CDS: c.839+4A>G AnimoAcid: p.Glu280fsX281	Substitutions	Direct sequencing	Lee KH et al., 2011
942	Substitutions	Genomic: g.31594A>G CDS: c.1630A>G AnimoAcid: p.Arg544Gly	Substitutions	Direct sequencing	Lee KH et al., 2011
943	Substitutions	Genomic: g.28645T>C CDS: c.1106T>C AnimoAcid: p.Leu369Pro	Substitutions	Direct sequencing	Lee KH et al., 2011
944	Substitutions	Genomic: g.14554C>T CDS: c.271C>T AnimoAcid: p.Gln91X	Substitutions	Direct sequencing	Lee KH et al., 2011
945	Substitutions	Genomic: g.11023G>C CDS: c.83G>C AnimoAcid: p.Arg28Pro	Substitutions	NA	Futatani T et al., 1998
946	Substitutions	Genomic: g.27539G>A CDS: c.905G>A AnimoAcid: p.Gly302Glu	Substitutions	NA	Futatani T et al., 1998
947	Substitutions	Genomic: g.27885C>T CDS: c.1072C>T AnimoAcid: p.Leu358Phe	Substitutions	NA	Futatani T et al., 1998
948	Substitutions	Genomic: g.30113C>G CDS: c.1506C>G AnimoAcid: p.Cys502Trp	Substitutions	NA	Futatani T et al., 1998
949	Substitutions	Genomic: g.36291T>C CDS: c.1931T>C AnimoAcid: p.Phe644Ser	Substitutions	NA	Futatani T et al., 1998
950	Substitutions	Genomic: g.24050C>T CDS: c.586C>T AnimoAcid: p.Gln196X	Substitutions	NA	Futatani T et al., 1998
951	Substitutions	Genomic: g.29413G>T CDS: c.1321G>T AnimoAcid: p.Glu441X	Substitutions	NA	Futatani T et al., 1998
952	Substitutions	Genomic: g.29982C>T CDS: c.1375C>T AnimoAcid: p.Gln459X	Substitutions	NA	Futatani T et al., 1998
953	Substitutions	Genomic: g.30096C>T CDS: c.1489C>T AnimoAcid: p.Gln497X	Substitutions	NA	Futatani T et al., 1998
954	Substitutions	Genomic: g.11022C>T CDS: c.82C>T AnimoAcid: p.Arg28Cys	Substitutions	NA	Perez de Diego R et al., 2008
955	Substitutions	Genomic: g.26900C>T CDS: c.862C>T AnimoAcid: p.Arg288Trp	Substitutions	NA	Perez de Diego R et al., 2008
956	Substitutions	Genomic: g.28661A>C CDS: c.1122A>C AnimoAcid: p.Lys374Asn	Substitutions	NA	Perez de Diego R et al., 2008
957	Substitutions	Genomic: g.29380A>G CDS: c.1288A>G AnimoAcid: p.Lys430Glu	Substitutions	NA	Perez de Diego R et al., 2008
958	Substitutions	Genomic: g.31583T>C CDS: c.1619T>C AnimoAcid: p.Phe540Ser	Substitutions	NA	Perez de Diego R et al., 2008
959	Substitutions	Genomic: g.31594A>G CDS: c.1630A>G AnimoAcid: p.Arg544Gly	Substitutions	NA	Perez de Diego R et al., 2008
960	Substitutions	Genomic: g.32237G>T CDS: c.1632G>T AnimoAcid: p.Arg544Ser	Substitutions	NA	Perez de Diego R et al., 2008
961	Substitutions	Genomic: g.16208G>C CDS: c.372G>C AnimoAcid: p.Trp124Cys	Substitutions	Direct sequencing, Restriction enzyme analysis	Havlicekova Z et al., 2013