WAS
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.1750G>A
CDS: c.274-1G>A
AnimoAcid: 		Substitutions Direct sequencing, PCR based assay Ariga T et al., 1996
2 Substitutions Genomic: g.488C>T
CDS: c.134C>T
AnimoAcid: p.Thr45Met		 Substitutions Direct sequencing, SSCP de Saint Basile G et al., 1996
3 Substitutions Genomic: g.577G>A
CDS: c.223G>A
AnimoAcid: p.Val75Met		 Substitutions Direct sequencing, SSCP de Saint Basile G et al., 1996
4 Deletion Genomic: g.1728_3136del
CDS: c.274_734del
AnimoAcid: 		Deletion Southern blotting, Direct sequencing, PCR based assay Ariga T et al., 1997
5 Deletion Genomic: g.88delG
CDS: c.31delG
AnimoAcid: p.Gly12fs		 Deletion Southern blotting, Direct sequencing, PCR based assay Ariga T et al., 1997
6 Substitutions Genomic: g.97G>T
CDS: c.40G>T
AnimoAcid: p.Gly14X		 Substitutions SSCP, Direct sequencing Wengler GS et al., 1995
7 Deletion Genomic: g.139delC
CDS: c.82delC
AnimoAcid: p.Gln28fs		 Deletion SSCP, Direct sequencing Wengler GS et al., 1995
8 Deletion Genomic: g.164_165delTT
CDS: c.107_108delTT
AnimoAcid: p.Phe36X		 Deletion SSCP, Direct sequencing Wengler GS et al., 1995
9 Substitutions Genomic: g.178C>T
CDS: c.121C>T
AnimoAcid: p.Arg41X		 Substitutions SSCP, Direct sequencing Wengler GS et al., 1995
10 Insertion Genomic: g.2011_2012insA
CDS: c.434_435insA
AnimoAcid: p.Gln146fs		 Insertion Direct sequencing, Heteroduplex analysis Wengler GS et al., 1995
11 Deletion Genomic: g.2315delT
CDS: c.536delT
AnimoAcid: p.Leu179fs		 Deletion Direct sequencing, SSCP Wengler GS et al., 1995
12 Substitutions Genomic: g.3056C>T
CDS: c.631C>T
AnimoAcid: p.Arg211X		 Substitutions Direct sequencing, SSCP Wengler GS et al., 1995
13 Deletion Genomic: g.3160delG
CDS: c.734+1delG
AnimoAcid: 		Deletion Direct sequencing, SSCP Wengler GS et al., 1995
14 Substitutions Genomic: g.3108C>G
CDS: c.683C>G
AnimoAcid: p.Ser228X		 Substitutions Direct sequencing, SSCP Wengler GS et al., 1995
15 Insertion Genomic: g.4302_4303insT
CDS: c.777+2_777+3insT
AnimoAcid: 		Insertion Direct sequencing, Heteroduplex analysis, SSCP Wengler GS et al., 1995
16 Substitutions Genomic: g.4301G>A
CDS: c.777+1G>A
AnimoAcid: 		Substitutions Direct sequencing, Heteroduplex analysis, SSCP Wengler GS et al., 1995
17 Substitutions Genomic: g.4579G>T
CDS: c.853G>T
AnimoAcid: p.Glu285X		 Substitutions Direct sequencing, SSCP Wengler GS et al., 1995
18 Deletion Genomic: g.4986delC
CDS: c.1054delC
AnimoAcid: p.Pro353fs		 Deletion Direct sequencing, Heteroduplex analysis Wengler GS et al., 1995
19 Deletion Genomic: g.5521delC
CDS: c.1339-3delC
AnimoAcid: 		Deletion Direct sequencing, SSCP Wengler GS et al., 1995
20 Substitutions Genomic: g.5522A>T
CDS: c.1339-2A>T
AnimoAcid: 		Substitutions Direct sequencing, SSCP Wengler GS et al., 1995
21 Substitutions Genomic: g.610C>T
CDS: c.256C>T
AnimoAcid: p.Arg86Cys		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Schwartz M et al., 1996
22 Substitutions Genomic: g.1968G>A
CDS: c.391G>A
AnimoAcid: p.Glu131Lys		 Substitutions Direct sequencing, SSCP, Restriction enzyme analysis Schwartz M et al., 1996
23 Substitutions Genomic: g.190G>A
CDS: c.132+1G>A
AnimoAcid: 		Substitutions Direct sequencing, SSCP Kwan SP et al., 1995
24 Substitutions Genomic: g.610C>T
CDS: c.256C>T
AnimoAcid: p.Arg86Cys		 Substitutions Direct sequencing, SSCP Kwan SP et al., 1995
25 Deletion Genomic: g.4984delC
CDS: c.1052delC
AnimoAcid: p.Pro351fs		 Deletion Direct sequencing, SSCP Kwan SP et al., 1995
26 Substitutions Genomic: g.173T>C
CDS: c.116T>C
AnimoAcid: p.Leu39Pro		 Substitutions Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1997
27 Substitutions Genomic: g.521C>T
CDS: c.167C>T
AnimoAcid: p.Ala56Val		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Schwartz M et al., 1996
28 Substitutions Genomic: g.157C>T
CDS: c.100C>T
AnimoAcid: p.Arg34X		 Substitutions Direct sequencing, SSCP Kwan SP et al., 1995
29 Substitutions Genomic: g.1772C>T
CDS: c.295C>T
AnimoAcid: p.Gln99X		 Substitutions Direct sequencing, SSCP Kwan SP et al., 1995
30 Substitutions Genomic: g.186C>G
CDS: c.129C>G
AnimoAcid: p.Cys43Trp		 Substitutions Direct sequencing, SSCP Kwan SP et al., 1995
31 Substitutions Genomic: g.488C>T
CDS: c.134C>T
AnimoAcid: p.Thr45Met		 Substitutions Direct sequencing, SSCP Kwan SP et al., 1995
32 Substitutions Genomic: g.527C>T
CDS: c.173C>T
AnimoAcid: p.Pro58Leu		 Substitutions Direct sequencing, SSCP Kwan SP et al., 1995
33 Substitutions Genomic: g.1974G>A
CDS: c.397G>A
AnimoAcid: p.Glu133Lys		 Substitutions Direct sequencing, SSCP Kwan SP et al., 1995
34 Substitutions Genomic: g.1977G>A
CDS: c.400G>A
AnimoAcid: p.Ala134Thr		 Substitutions Direct sequencing, SSCP Kwan SP et al., 1995
35 Deletion Genomic: g.568delG
CDS: c.214delG
AnimoAcid: p.Val72CysfsX3		 Deletion Direct sequencing, SSCP Kwan SP et al., 1995
36 Deletion Genomic: g.5203delG
CDS: c.1271delG
AnimoAcid: p.Gly424AlafsX20		 Deletion Direct sequencing, SSCP Kwan SP et al., 1995
37 Insertion Genomic: g.1977_1978insACGAGG
CDS: c.400_401insACGAGG
AnimoAcid: p.Glu133_Ala134insAspGlu		 Insertion Direct sequencing, SSCP Kwan SP et al., 1995
38 Substitutions Genomic: g.2343G>A
CDS: c.559+5G>A
AnimoAcid: 		Substitutions Direct sequencing, SSCP Kwan SP et al., 1995
39 Substitutions Genomic: g.75G>A
CDS: c.18G>A
AnimoAcid: p.Met6Ile		 Substitutions Direct sequencing Imai K et al., 2004
40 Substitutions Genomic: g.128C>T
CDS: c.71C>T
AnimoAcid: p.Ser24Phe		 Substitutions Direct sequencing Imai K et al., 2004
41 Substitutions Genomic: g.488C>T
CDS: c.134C>T
AnimoAcid: p.Thr45Met		 Substitutions Direct sequencing Imai K et al., 2004
42 Substitutions Genomic: g.157C>T
CDS: c.100C>T
AnimoAcid: p.Arg34X		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Thompson LJ et al., 1999
43 Substitutions Genomic: g.577G>A
CDS: c.223G>A
AnimoAcid: p.Val75Met		 Substitutions Direct sequencing Imai K et al., 2004
44 Substitutions Genomic: g.610C>T
CDS: c.256C>T
AnimoAcid: p.Arg86Cys		 Substitutions Direct sequencing Imai K et al., 2004
45 Substitutions Genomic: g.611G>A
CDS: c.257G>A
AnimoAcid: p.Arg86His		 Substitutions Direct sequencing Imai K et al., 2004
46 Substitutions Genomic: g.94C>T
CDS: c.37C>T
AnimoAcid: p.Arg13X		 Substitutions Direct sequencing Imai K et al., 2004
47 Substitutions Genomic: g.154C>T
CDS: c.97C>T
AnimoAcid: p.Gln33X		 Substitutions Direct sequencing Imai K et al., 2004
48 Substitutions Genomic: g.516C>A
CDS: c.162C>A
AnimoAcid: p.Tyr54X		 Substitutions Direct sequencing Imai K et al., 2004
49 Substitutions Genomic: g.4893C>T
CDS: c.961C>T
AnimoAcid: p.Arg321X		 Substitutions Direct sequencing Imai K et al., 2004
50 Substitutions Genomic: g.611G>A
CDS: c.257G>A
AnimoAcid: p.Arg86His		 Substitutions Direct sequencing, SSCP Park SK et al., 2007
51 Deletion Genomic: g.64_68delGGGGG
CDS: c.7_11delGGGGG
AnimoAcid: p.Gly3ProfsX32		 Deletion Direct sequencing Imai K et al., 2004
52 Deletion Genomic: g.164_165delTT
CDS: c.107_108delTT
AnimoAcid: p.Phe36X		 Deletion Direct sequencing Imai K et al., 2004
53 Deletion Genomic: g.580_581delAA
CDS: c.226_227delAA
AnimoAcid: p.Lys76fs		 Deletion Direct sequencing Imai K et al., 2004
54 Deletion Genomic: g.603_607delCTTCA
CDS: c.249_253delCTTCA
AnimoAcid: p.Tyr83fs		 Deletion Direct sequencing Imai K et al., 2004
55 Deletion Genomic: g.1949_1952delGGGG
CDS: c.372_375delGGGG
AnimoAcid: p.Ala124fs		 Deletion Direct sequencing Imai K et al., 2004
56 Deletion Genomic: g.4591delC
CDS: c.865delC
AnimoAcid: p.Leu289fs		 Deletion Direct sequencing Imai K et al., 2004
57 Deletion Genomic: g.5076_5080delCCCCC
CDS: c.1144_1148delCCCCC
AnimoAcid: p.Pro382SerfsX61		 Deletion Direct sequencing Imai K et al., 2004
58 Deletion Genomic: g.1728_3136del
CDS: c.274_734del
AnimoAcid: p.Ala92fs		 Deletion Direct sequencing Imai K et al., 2004
59 Deletion Genomic: g.2962_3136del
CDS: c.560_734del
AnimoAcid: p.Gly187fs		 Deletion Direct sequencing Imai K et al., 2004
60 Duplications Genomic: g.87dupC
CDS: c.30dupC
AnimoAcid: p.Gly11fs		 Duplications Direct sequencing Imai K et al., 2004
61 Substitutions Genomic: g.191T>G
CDS: c.132+2T>G
AnimoAcid: 		Substitutions Direct sequencing Imai K et al., 2004
62 Substitutions Genomic: g.94C>T
CDS: c.37C>T
AnimoAcid: p.Arg13X		 Substitutions Direct sequencing Jo EK et al., 2003
63 Substitutions Genomic: g.3056C>T
CDS: c.631C>T
AnimoAcid: p.Arg211X		 Substitutions Direct sequencing Jo EK et al., 2003
64 Substitutions Genomic: g.1937G>A
CDS: c.361-1G>A
AnimoAcid: 		Substitutions Direct sequencing Imai K et al., 2004
65 Substitutions Genomic: g.1838G>A
CDS: c.360+1G>A
AnimoAcid: p.Ala92_Asp120del		 Substitutions Direct sequencing Imai K et al., 2004
66 Deletion Genomic: g.2041_2048del
CDS: c.463+1_463+8del
AnimoAcid: 		Deletion Direct sequencing Imai K et al., 2004
67 Substitutions Genomic: g.2343G>A
CDS: c.559+5G>A
AnimoAcid: 		Substitutions Direct sequencing Imai K et al., 2004
68 Deletion Genomic: g.4257delG
CDS: c.735-1delG
AnimoAcid: 		Deletion Direct sequencing Imai K et al., 2004
69 Substitutions Genomic: g.4301G>C
CDS: c.777+1G>C
AnimoAcid: 		Substitutions Direct sequencing Imai K et al., 2004
70 Deletion Genomic: g.4301_4304delGTGA
CDS: c.777+1_777+4delGTGA
AnimoAcid: 		Deletion Direct sequencing Imai K et al., 2004
71 Substitutions Genomic: g.4279G>A
CDS: c.756G>A
AnimoAcid: p.Trp252X		 Substitutions Direct sequencing Kim HJ et al., 2006
72 Substitutions Genomic: g.7366T>C
CDS: c.1507T>C
AnimoAcid: p.X503ArgextX*80		 Substitutions Direct sequencing Chatchatee P et al., 2003
73 Substitutions Genomic: g.486G>C
CDS: c.133-1G>C
AnimoAcid: 		Substitutions Direct sequencing Chien YH et al., 2004
74 Duplications Genomic: g.4953dupC
CDS: c.1021dupC
AnimoAcid: p.Leu342ThrfsX153		 Duplications Direct sequencing Chien YH et al., 2004
75 Deletion Genomic: g.58_2040del
CDS: c.1_463del
AnimoAcid: p.0		 Deletion Direct sequencing Chien YH et al., 2004
76 Substitutions Genomic: g.599C>T
CDS: c.245C>T
AnimoAcid: p.Ser82Phe		 Substitutions Direct sequencing Chien YH et al., 2004
77 Substitutions Genomic: g.178C>T
CDS: c.121C>T
AnimoAcid: p.Arg41X		 Substitutions Direct sequencing Chien YH et al., 2004
78 Substitutions Genomic: g.94C>T
CDS: c.37C>T
AnimoAcid: p.Arg13X		 Substitutions Direct sequencing Chien YH et al., 2004
79 Substitutions Genomic: g.150G>C
CDS: c.93G>C
AnimoAcid: p.Glu31Asp		 Substitutions Direct sequencing, SSCP Greer WL et al., 1996
80 Substitutions Genomic: g.157C>T
CDS: c.100C>T
AnimoAcid: p.Arg34X		 Substitutions Direct sequencing, SSCP Greer WL et al., 1996
81 Insertion Genomic: g.169_170insC
CDS: c.112_113insC
AnimoAcid: p.Met38fs		 Insertion Direct sequencing, SSCP Greer WL et al., 1996
82 Substitutions Genomic: g.178C>T
CDS: c.121C>T
AnimoAcid: p.Arg41X		 Substitutions Direct sequencing, SSCP Greer WL et al., 1996
83 Substitutions Genomic: g.611G>A
CDS: c.257G>A
AnimoAcid: p.Arg86His		 Substitutions Direct sequencing, SSCP Greer WL et al., 1996
84 Substitutions Genomic: g.1936A>C
CDS: c.361-2A>C
AnimoAcid: p.Asp121fs		 Substitutions Direct sequencing, SSCP Greer WL et al., 1996
85 Insertion Genomic: g.1953_1954insC
CDS: c.376_377insC
AnimoAcid: p.Leu126fs		 Insertion Direct sequencing, SSCP Greer WL et al., 1996
86 Substitutions Genomic: g.1950G>C
CDS: c.373G>C
AnimoAcid: p.Gly125Arg		 Substitutions Direct sequencing, SSCP Greer WL et al., 1996
87 Substitutions Genomic: g.1974G>A
CDS: c.397G>A
AnimoAcid: p.Glu133Lys		 Substitutions Direct sequencing, SSCP Greer WL et al., 1996
88 Insertion Genomic: g.1977_1978ins6
CDS: c.400_401ins6
AnimoAcid: p.Asp155fs		 Insertion Direct sequencing, SSCP Greer WL et al., 1996
89 Substitutions Genomic: g.1959T>C
CDS: c.382T>C
AnimoAcid: p.Phe128Leu		 Substitutions Direct sequencing, SSCP Greer WL et al., 1996
90 Substitutions Genomic: g.1960T>C
CDS: c.383T>C
AnimoAcid: p.Phe128Ser		 Substitutions Direct sequencing, SSCP Greer WL et al., 1996
91 Deletion Genomic: g.2146_2149delACAG
CDS: c.464-4delACAG
AnimoAcid: p.Asp155fs		 Deletion Direct sequencing, SSCP Greer WL et al., 1996
92 Deletion Genomic: g.4933delG
CDS: c.1001delG
AnimoAcid: p.Gly334fs		 Deletion Direct sequencing, SSCP Greer WL et al., 1996
93 Deletion Genomic: g.4945_4946delGT
CDS: c.1013_1014delGT
AnimoAcid: p.Arg338fs		 Deletion Direct sequencing, SSCP Greer WL et al., 1996
94 Deletion Genomic: g.5133_5142del10
CDS: c.1201_1210del10
AnimoAcid: p.Pro400fs		 Deletion Direct sequencing, SSCP Greer WL et al., 1996
95 Substitutions Genomic: g.5272T>C
CDS: c.1338+2T>C
AnimoAcid: p.Asp485fs		 Substitutions Direct sequencing, SSCP Greer WL et al., 1996
96 Deletion Genomic: g.531delT
CDS: c.177delT
AnimoAcid: p.Gly60GlufsX15		 Deletion Direct sequencing, Restriction enzyme analysis Derry JM et al., 1994
97 Substitutions Genomic: g.611G>T
CDS: c.257G>T
AnimoAcid: p.Arg86Leu		 Substitutions Direct sequencing, Restriction enzyme analysis Derry JM et al., 1994
98 Substitutions Genomic: g.611G>A
CDS: c.257G>A
AnimoAcid: p.Arg86His		 Substitutions Direct sequencing, Restriction enzyme analysis Derry JM et al., 1994
99 Substitutions Genomic: g.1990G>C
CDS: c.413G>C
AnimoAcid: p.Arg138Pro		 Substitutions Direct sequencing Luthi JN et al., 2003
100 Substitutions Genomic: g.577G>A
CDS: c.223G>A
AnimoAcid: p.Val75Met		 Substitutions Direct sequencing, SSCP, Restriction enzyme analysis Fillat C et al., 2001
101 Substitutions Genomic: g.611G>A
CDS: c.257G>A
AnimoAcid: p.Arg86His		 Substitutions Direct sequencing, SSCP, Restriction enzyme analysis Fillat C et al., 2001
102 Duplications Genomic: g.1807dupC
CDS: c.330dupC
AnimoAcid: p.Thr111HisfsX11		 Duplications Direct sequencing, SSCP Allavena P et al., 2001
103 Substitutions Genomic: g.1974G>A
CDS: c.397G>A
AnimoAcid: p.Glu133Lys		 Substitutions Direct sequencing, SSCP Allavena P et al., 2001
104 Substitutions Genomic: g.3056C>T
CDS: c.631C>T
AnimoAcid: p.Arg211X		 Substitutions Direct sequencing, SSCP Allavena P et al., 2001
105 Substitutions Genomic: g.173T>C
CDS: c.116T>C
AnimoAcid: p.Leu39Pro		 Substitutions Direct sequencing, SSCP Allavena P et al., 2001
106 Substitutions Genomic: g.148G>A
CDS: c.91G>A
AnimoAcid: p.Glu31Lys		 Substitutions Direct sequencing, SSCP Allavena P et al., 2001
107 Substitutions Genomic: g.584A>G
CDS: c.230A>G
AnimoAcid: p.Asp77Gly		 Substitutions Direct sequencing, SSCP Allavena P et al., 2001
108 Substitutions Genomic: g.488C>T
CDS: c.134C>T
AnimoAcid: p.Thr45Met		 Substitutions Direct sequencing, SSCP, Restriction enzyme analysis Thompson LJ et al., 1999
109 Substitutions Genomic: g.4893C>T
CDS: c.961C>T
AnimoAcid: p.Arg321X		 Substitutions Direct sequencing, SSCP Allavena P et al., 2001
110 Duplications Genomic: g.538dupG
CDS: c.184dupG
AnimoAcid: p.Glu62GlyfsX16		 Duplications Direct sequencing, SSCP, Restriction enzyme analysis Thompson LJ et al., 1999
111 Duplications Genomic: g.4302dupT
CDS: c.777+2dupT
AnimoAcid: 		Duplications Direct sequencing, SSCP Allavena P et al., 2001
112 Substitutions Genomic: g.488C>T
CDS: c.134C>T
AnimoAcid: p.Thr45Met		 Substitutions Direct sequencing, PCR based assay, Restriction enzyme analysis Ho LL et al., 2001
113 Substitutions Genomic: g.610C>T
CDS: c.256C>T
AnimoAcid: p.Arg86Cys		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Fillat C et al., 2001
114 Substitutions Genomic: g.1974G>A
CDS: c.397G>A
AnimoAcid: p.Glu133Lys		 Substitutions Direct sequencing, SSCP Fillat C et al., 2001
115 Substitutions Genomic: g.4893C>T
CDS: c.961C>T
AnimoAcid: p.Arg321X		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Fillat C et al., 2001
116 Deletion Genomic: g.4917delC
CDS: c.985delC
AnimoAcid: p.Pro329fs		 Deletion Direct sequencing, Restriction enzyme analysis, SSCP Ariga T et al., 2001
117 Deletion Genomic: g.5203delG
CDS: c.1271delG
AnimoAcid: p.Gly424AlafsX20		 Deletion Direct sequencing Falet H et al., 2002
118 Substitutions Genomic: g.2343G>A
CDS: c.559+5G>A
AnimoAcid: 		Substitutions Direct sequencing Falet H et al., 2002
119 Substitutions Genomic: g.577G>A
CDS: c.223G>A
AnimoAcid: p.Val75Met		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Thompson LJ et al., 1999
120 Deletion Genomic: g.4659_4662delTGAG
CDS: c.931+2_931+5delTGAG
AnimoAcid: 		Deletion Direct sequencing Dupre L et al., 2002
121 Substitutions Genomic: g.1791T>C
CDS: c.314T>C
AnimoAcid: p.Leu105Pro		 Substitutions Direct sequencing Dupre L et al., 2002
122 Substitutions Genomic: g.4535T>C
CDS: c.809T>C
AnimoAcid: p.Leu270Pro		 Substitutions PCR based assay Devriendt K et al., 2001
123 Substitutions Genomic: g.5638G>A
CDS: c.1453G>A
AnimoAcid: p.Asp485Asn		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Fillat C et al., 2001
124 Substitutions Genomic: g.521C>T
CDS: c.167C>T
AnimoAcid: p.Ala56Val		 Substitutions Direct sequencing, SSCP Allavena P et al., 2001
125 Substitutions Genomic: g.516C>A
CDS: c.162C>A
AnimoAcid: p.Tyr54X		 Substitutions Direct sequencing, SSCP Brooimans RA et al., 2000
126 Substitutions Genomic: g.1787C>T
CDS: c.310C>T
AnimoAcid: p.Gln104X		 Substitutions Direct sequencing, SSCP Brooimans RA et al., 2000
127 Deletion Genomic: g.2298delG
CDS: c.519delG
AnimoAcid: p.Gly173fs		 Deletion Direct sequencing, SSCP Brooimans RA et al., 2000
128 Deletion Genomic: g.4301_4304delGTGA
CDS: c.777+1_777+4delGTGA
AnimoAcid: 		Deletion Direct sequencing, SSCP Brooimans RA et al., 2000
129 Deletion Genomic: g.4603delT
CDS: c.877delT
AnimoAcid: p.Phe293SerfsX14		 Deletion Direct sequencing, SSCP Brooimans RA et al., 2000
130 Substitutions Genomic: g.176G>T
CDS: c.119G>T
AnimoAcid: p.Gly40Val		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Rottem M et al., 2000
131 Substitutions Genomic: g.544T>C
CDS: c.190T>C
AnimoAcid: p.Trp64Arg		 Substitutions Direct sequencing, SSCP Fillat C et al., 2000
132 Substitutions Genomic: g.1948C>A
CDS: c.371C>A
AnimoAcid: p.Ala124Glu		 Substitutions Direct sequencing, SSCP Fillat C et al., 2000
133 Duplications Genomic: g.88dupG
CDS: c.31dupG
AnimoAcid: p.Arg13fs		 Duplications Direct sequencing, Heteroduplex analysis, Restriction enzyme analysis Lemahieu V et al., 1999
134 Substitutions Genomic: g.571T>C
CDS: c.217T>C
AnimoAcid: p.Cys73Arg		 Substitutions Direct sequencing Lemahieu V et al., 1999
135 Substitutions Genomic: g.577G>A
CDS: c.223G>A
AnimoAcid: p.Val75Met		 Substitutions Direct sequencing, Restriction enzyme analysis Lemahieu V et al., 1999
136 Substitutions Genomic: g.610C>T
CDS: c.256C>T
AnimoAcid: p.Arg86Cys		 Substitutions Direct sequencing, Restriction enzyme analysis Lemahieu V et al., 1999
137 Substitutions Genomic: g.1974G>A
CDS: c.397G>A
AnimoAcid: p.Glu133Lys		 Substitutions Direct sequencing Lemahieu V et al., 1999
138 Substitutions Genomic: g.2001C>T
CDS: c.424C>T
AnimoAcid: p.Gln142X		 Substitutions Direct sequencing, SSCP Lemahieu V et al., 1999
139 Deletion Genomic: g.2343delG
CDS: c.559+5delG
AnimoAcid: 		Deletion Direct sequencing, SSCP, PCR based assay Lemahieu V et al., 1999
140 Substitutions Genomic: g.2343G>A
CDS: c.559+5G>A
AnimoAcid: p.[=, Pro188_Lys245del]		 Substitutions Direct sequencing, SSCP, PCR based assay Lemahieu V et al., 1999
141 Deletion Genomic: g.4278delG
CDS: c.755delG
AnimoAcid: p.Trp252fs		 Deletion Direct sequencing, SSCP Lemahieu V et al., 1999
142 Deletion-Insertion Genomic: g.4598_4600delACGinsCA
CDS: c.872_874delACGinsCA
AnimoAcid: p.Tyr291SerfsX16		 Deletion-Insertion Direct sequencing Lemahieu V et al., 1999
143 Substitutions Genomic: g.4659T>A
CDS: c.931+2T>A
AnimoAcid: 		Substitutions Direct sequencing, Restriction enzyme analysis Lemahieu V et al., 1999
144 Substitutions Genomic: g.4893C>T
CDS: c.961C>T
AnimoAcid: p.Arg321X		 Substitutions Direct sequencing, Restriction enzyme analysis Lemahieu V et al., 1999
145 Deletion Genomic: g.5217delG
CDS: c.1285delG
AnimoAcid: p.Gly429fs		 Deletion Direct sequencing Lemahieu V et al., 1999
146 Substitutions Genomic: g.5250C>T
CDS: c.1318C>T
AnimoAcid: p.Gln440X		 Substitutions Direct sequencing, PCR based assay, Restriction enzyme analysis Lemahieu V et al., 1999
147 Substitutions Genomic: g.5638G>A
CDS: c.1453G>A
AnimoAcid: p.Asp485Asn		 Substitutions Direct sequencing, PCR based assay, Restriction enzyme analysis Lemahieu V et al., 1999
148 Substitutions Genomic: g.3160G>A
CDS: c.734+1G>A
AnimoAcid: 		Substitutions Direct sequencing, Heteroduplex analysis, SSCP Giliani S et al., 1999
149 Duplications Genomic: g.1807dupC
CDS: c.330dupC
AnimoAcid: p.Thr111HisfsX11		 Duplications Direct sequencing, Heteroduplex analysis, SSCP Giliani S et al., 1999
150 Substitutions Genomic: g.115C>T
CDS: c.58C>T
AnimoAcid: p.Gln20X		 Substitutions Direct sequencing, SSCP Qasim W et al., 2001
151 Substitutions Genomic: g.148G>A
CDS: c.91G>A
AnimoAcid: p.Glu31Lys		 Substitutions Direct sequencing, SSCP Qasim W et al., 2001
152 Substitutions Genomic: g.149A>G
CDS: c.92A>G
AnimoAcid: p.Glu31Gly		 Substitutions Direct sequencing, SSCP Qasim W et al., 2001
153 Substitutions Genomic: g.1838G>T
CDS: c.360+1G>T
AnimoAcid: 		Substitutions Direct sequencing, SSCP Qasim W et al., 2001
154 Substitutions Genomic: g.1974G>A
CDS: c.397G>A
AnimoAcid: p.Glu133Lys		 Substitutions Direct sequencing, SSCP Qasim W et al., 2001
155 Substitutions Genomic: g.2001C>T
CDS: c.424C>T
AnimoAcid: p.Gln142X		 Substitutions Direct sequencing, SSCP Qasim W et al., 2001
156 Substitutions Genomic: g.3056C>T
CDS: c.631C>T
AnimoAcid: p.Arg211X		 Substitutions Direct sequencing, SSCP Qasim W et al., 2001
157 Deletion Genomic: g.2168delC
CDS: c.482delC
AnimoAcid: p.Pro161HisfsX100		 Deletion Direct sequencing, SSCP Qasim W et al., 2001
158 Duplications Genomic: g.5203dupG
CDS: c.1271dupG
AnimoAcid: p.Leu425ProfsX70		 Duplications Direct sequencing, SSCP Qasim W et al., 2001
159 Deletion Genomic: g.68delG
CDS: c.11delG
AnimoAcid: p.Gly4AlafsX40		 Deletion Direct sequencing, PCR based assay Sasahara Y et al., 2000
160 Substitutions Genomic: g.4893C>T
CDS: c.961C>T
AnimoAcid: p.Arg321X		 Substitutions Direct sequencing, PCR based assay, Restriction enzyme analysis Sasahara Y et al., 2000
161 Substitutions Genomic: g.516C>G
CDS: c.162C>G
AnimoAcid: p.Tyr54X		 Substitutions Direct sequencing, PCR based assay Sasahara Y et al., 2000
162 Deletion Genomic: g.5017delC
CDS: c.1085delC
AnimoAcid: p.Pro362fs		 Deletion Direct sequencing, PCR based assay Sasahara Y et al., 2000
163 Duplications Genomic: g.1832_1837dupGGAGAT
CDS: c.355_360dupGGAGAT
AnimoAcid: p.Gly119_Asp120dup		 Duplications Direct sequencing, PCR based assay Sasahara Y et al., 2000
164 Substitutions Genomic: g.604T>C
CDS: c.250T>C
AnimoAcid: p.Phe84Leu		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Thompson LJ et al., 1999
165 Substitutions Genomic: g.611G>A
CDS: c.257G>A
AnimoAcid: p.Arg86His		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Thompson LJ et al., 1999
166 Substitutions Genomic: g.1808A>C
CDS: c.331A>C
AnimoAcid: p.Thr111Pro		 Substitutions Direct sequencing, SSCP Thompson LJ et al., 1999
167 Substitutions Genomic: g.1820C>T
CDS: c.343C>T
AnimoAcid: p.His115Tyr		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Thompson LJ et al., 1999
168 Substitutions Genomic: g.1974G>A
CDS: c.397G>A
AnimoAcid: p.Glu133Lys		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Thompson LJ et al., 1999
169 Substitutions Genomic: g.1990G>C
CDS: c.413G>C
AnimoAcid: p.Arg138Pro		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Thompson LJ et al., 1999
170 Substitutions Genomic: g.3056C>T
CDS: c.631C>T
AnimoAcid: p.Arg211X		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Thompson LJ et al., 1999
171 Duplications Genomic: g.4914dupC
CDS: c.982dupC
AnimoAcid: p.Arg328ProfsX7		 Duplications Direct sequencing, Restriction enzyme analysis, SSCP Thompson LJ et al., 1999
172 Deletion Genomic: g.(5524-?)_7345del
CDS: c.(1339-?)_1509del
AnimoAcid: 		Deletion Direct sequencing, SSCP Thompson LJ et al., 1999
173 Substitutions Genomic: g.161T>A
CDS: c.104T>A
AnimoAcid: p.Leu35His		 Substitutions Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1997
174 Substitutions Genomic: g.611G>A
CDS: c.257G>A
AnimoAcid: p.Arg86His		 Substitutions Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1997
175 Substitutions Genomic: g.1960T>C
CDS: c.383T>C
AnimoAcid: p.Phe128Ser		 Substitutions Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1997
176 Substitutions Genomic: g.488C>T
CDS: c.134C>T
AnimoAcid: p.Thr45Met		 Substitutions Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1997
177 Substitutions Genomic: g.1974G>A
CDS: c.397G>A
AnimoAcid: p.Glu133Lys		 Substitutions Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1997
178 Substitutions Genomic: g.602A>G
CDS: c.248A>G
AnimoAcid: p.Tyr83Cys		 Substitutions Direct sequencing, PCR based assay Lemahieu V et al., 1999
179 Substitutions Genomic: g.1978C>T
CDS: c.401C>T
AnimoAcid: p.Ala134Val		 Substitutions Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1997
180 Substitutions Genomic: g.94C>T
CDS: c.37C>T
AnimoAcid: p.Arg13X		 Substitutions Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1997
181 Substitutions Genomic: g.3056C>T
CDS: c.631C>T
AnimoAcid: p.Arg211X		 Substitutions Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1997
182 Substitutions Genomic: g.4615C>T
CDS: c.889C>T
AnimoAcid: p.Gln297X		 Substitutions Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1997
183 Substitutions Genomic: g.4893C>T
CDS: c.961C>T
AnimoAcid: p.Arg321X		 Substitutions Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1997
184 Substitutions Genomic: g.5022C>T
CDS: c.1090C>T
AnimoAcid: p.Arg364X		 Substitutions Direct sequencing, PCR based assay, Restriction enzyme analysis Lemahieu V et al., 1999
185 Substitutions Genomic: g.4645A>G
CDS: c.919A>G
AnimoAcid: p.Met307Val		 Substitutions Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1997
186 Deletion Genomic: g.1728_1814del
CDS: c.274_360del
AnimoAcid: p.Ala92_Asp120del		 Deletion Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1997
187 Substitutions Genomic: g.1797A>G
CDS: c.320A>G
AnimoAcid: p.Tyr107Cys		 Substitutions Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1997
188 Deletion Genomic: g.164_165delTT
CDS: c.107_108delTT
AnimoAcid: p.Phe36X		 Deletion Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1997
189 Substitutions Genomic: g.521C>T
CDS: c.167C>T
AnimoAcid: p.Ala56Val		 Substitutions Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1997
190 Deletion Genomic: g.530delC
CDS: c.176delC
AnimoAcid: p.Pro59LeufsX16		 Deletion Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1997
191 Deletion Genomic: g.4933delG
CDS: c.1001delG
AnimoAcid: p.Gly334ValfsX110		 Deletion Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1997
192 Duplications Genomic: g.4923dupA
CDS: c.991dupA
AnimoAcid: p.Ile331AspfsX4		 Duplications Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1997
193 Substitutions Genomic: g.577G>A
CDS: c.223G>A
AnimoAcid: p.Val75Met		 Substitutions Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1997
194 Substitutions Genomic: g.610C>T
CDS: c.256C>T
AnimoAcid: p.Arg86Cys		 Substitutions Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1997
195 Duplications Genomic: g.5203dupG
CDS: c.1271dupG
AnimoAcid: p.Leu425ProfsX70		 Duplications Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1997
196 Deletion Genomic: g.5203delG
CDS: c.1271delG
AnimoAcid: p.Gly424AlafsX20		 Deletion Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1997
197 Substitutions Genomic: g.1937G>A
CDS: c.361-1G>A
AnimoAcid: 		Substitutions Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1997
198 Deletion Genomic: g.3096_3159del
CDS: c.671_734del
AnimoAcid: p.Asp224GlyfsX15		 Deletion Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1997
199 Substitutions Genomic: g.2343G>A
CDS: c.559+5G>A
AnimoAcid: 		Substitutions Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1997
200 Substitutions Genomic: g.610C>T
CDS: c.256C>T
AnimoAcid: p.Arg86Cys		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Thompson LJ et al., 1999
201 Substitutions Genomic: g.5640T>G
CDS: c.1453+2T>G
AnimoAcid: 		Substitutions Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1997
202 Substitutions Genomic: g.1950G>A
CDS: c.373G>A
AnimoAcid: p.Gly125Arg		 Substitutions Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1995
203 Substitutions Genomic: g.94C>T
CDS: c.37C>T
AnimoAcid: p.Arg13X		 Substitutions Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1995
204 Substitutions Genomic: g.1772C>T
CDS: c.295C>T
AnimoAcid: p.Gln99X		 Substitutions Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1995
205 Substitutions Genomic: g.4659T>C
CDS: c.931+2T>C
AnimoAcid: 		Substitutions Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1995
206 Substitutions Genomic: g.5640T>C
CDS: c.1453+2T>C
AnimoAcid: 		Substitutions Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1995
207 Duplications Genomic: g.87dupC
CDS: c.30dupC
AnimoAcid: p.Gly11ArgfsX26		 Duplications Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1995
208 Deletion Genomic: g.5203delG
CDS: c.1271delG
AnimoAcid: p.Gly424AlafsX20		 Deletion Direct sequencing, Fluorescent sequencing, PCR based assay Zhu Q et al., 1995
209 Substitutions Genomic: g.186C>G
CDS: c.129C>G
AnimoAcid: p.Cys43Trp		 Substitutions Direct sequencing Remold-O Donnell E et al., 1997
210 Substitutions Genomic: g.488C>T
CDS: c.134C>T
AnimoAcid: p.Thr45Met		 Substitutions Direct sequencing Remold-O Donnell E et al., 1997
211 Substitutions Genomic: g.2984G>A
CDS: c.560-1G>A
AnimoAcid: 		Substitutions Direct sequencing Remold-O Donnell E et al., 1997
212 Deletion Genomic: g.5203delG
CDS: c.1271delG
AnimoAcid: p.Gly424AlafsX20		 Deletion Direct sequencing Remold-O Donnell E et al., 1997
213 Substitutions Genomic: g.618C>A
CDS: c.264C>A
AnimoAcid: p.Tyr88X		 Substitutions Direct sequencing Remold-O Donnell E et al., 1997
214 Deletion Genomic: g.4984delC
CDS: c.1052delC
AnimoAcid: p.Pro351fs		 Deletion Direct sequencing Remold-O Donnell E et al., 1997
215 Substitutions Genomic: g.190G>A
CDS: c.132+1G>A
AnimoAcid: 		Substitutions Direct sequencing Remold-O Donnell E et al., 1997
216 Substitutions Genomic: g.1838G>A
CDS: c.360+1G>A
AnimoAcid: 		Substitutions Direct sequencing Remold-O Donnell E et al., 1997
217 Substitutions Genomic: g.2343G>A
CDS: c.559+5G>A
AnimoAcid: 		Substitutions Direct sequencing Remold-O Donnell E et al., 1997
218 Duplications Genomic: g.1839dupT
CDS: c.360+2dupT
AnimoAcid: 		Duplications Direct sequencing Remold-O Donnell E et al., 1997
219 Substitutions Genomic: g.610C>T
CDS: c.256C>T
AnimoAcid: p.Arg86Cys		 Substitutions Direct sequencing Remold-O Donnell E et al., 1997
220 Substitutions Genomic: g.94C>T
CDS: c.37C>T
AnimoAcid: p.Arg13X		 Substitutions Direct sequencing Remold-O Donnell E et al., 1997
221 Substitutions Genomic: g.577G>A
CDS: c.223G>A
AnimoAcid: p.Val75Met		 Substitutions Direct sequencing Remold-O Donnell E et al., 1997
222 Deletion Genomic: g.1769delG
CDS: c.292delG
AnimoAcid: p.Glu98AsnfsX28		 Deletion Direct sequencing Remold-O Donnell E et al., 1997
223 Deletion Genomic: g.164_165delTT
CDS: c.107_108delTT
AnimoAcid: p.Phe36X		 Deletion Direct sequencing, Heteroduplex analysis, SSCP Wengler GS et al., 1995
224 Duplications Genomic: g.4933dupG
CDS: c.1001dupG
AnimoAcid: p.Asn335X		 Duplications Direct sequencing, SSCP Rohrer J et al., 1996
225 Substitutions Genomic: g.178C>G
CDS: c.121C>G
AnimoAcid: p.Arg41Gly		 Substitutions Direct sequencing Stewart DM et al., 1996
226 Deletion Genomic: g.139delC
CDS: c.82delC
AnimoAcid: p.Gln28ArgfsX16		 Deletion Direct sequencing Stewart DM et al., 1996
227 Deletion Genomic: g.4599delC
CDS: c.873delC
AnimoAcid: p.Tyr291X		 Deletion Direct sequencing, Heteroduplex analysis, SSCP Facchetti F et al., 1998
228 Deletion Genomic: g.4928delG
CDS: c.996delG
AnimoAcid: p.Gly334fs		 Deletion Direct sequencing, Heteroduplex analysis, SSCP Facchetti F et al., 1998
229 Deletion Genomic: g.5082delC
CDS: c.1150delC
AnimoAcid: p.Pro384fs		 Deletion Direct sequencing, Heteroduplex analysis, SSCP Facchetti F et al., 1998
230 Deletion Genomic: g.139delC
CDS: c.82delC
AnimoAcid: p.Gln28ArgfsX16		 Deletion Direct sequencing, Heteroduplex analysis, SSCP Facchetti F et al., 1998
231 Substitutions Genomic: g.488C>T
CDS: c.134C>T
AnimoAcid: p.Thr45Met		 Substitutions Direct sequencing Ariga T et al., 1997
232 Substitutions Genomic: g.148G>A
CDS: c.91G>A
AnimoAcid: p.Glu31Lys		 Substitutions Direct sequencing Ariga T et al., 1997
233 Deletion Genomic: g.4986delC
CDS: c.1054delC
AnimoAcid: p.Pro353HisfsX91		 Deletion Direct sequencing Ariga T et al., 1997
234 Substitutions Genomic: g.610C>T
CDS: c.256C>T
AnimoAcid: p.Arg86Cys		 Substitutions Direct sequencing Duzova A et al., 2001
235 Substitutions Genomic: g.598T>C
CDS: c.244T>C
AnimoAcid: p.Ser82Pro		 Substitutions Dideoxy fingerprinting, SSCP Kolluri R et al., 1995
236 Deletion Genomic: g.588delC
CDS: c.234delC
AnimoAcid: p.Gln80ArgfsX46		 Deletion Dideoxy fingerprinting, SSCP Kolluri R et al., 1995
237 Substitutions Genomic: g.592C>T
CDS: c.238C>T
AnimoAcid: p.Gln80X		 Substitutions Dideoxy fingerprinting, SSCP Kolluri R et al., 1995
238 Deletion Genomic: g.161delT
CDS: c.104delT
AnimoAcid: p.Leu35ProfsX9		 Deletion Dideoxy fingerprinting, SSCP Kolluri R et al., 1995
239 Substitutions Genomic: g.1768G>C
CDS: c.291G>C
AnimoAcid: p.Trp97Cys		 Substitutions Dideoxy fingerprinting, SSCP Kolluri R et al., 1995
240 Substitutions Genomic: g.178C>T
CDS: c.121C>T
AnimoAcid: p.Arg41X		 Substitutions Dideoxy fingerprinting, SSCP Kolluri R et al., 1995
241 Substitutions Genomic: g.610C>T
CDS: c.256C>T
AnimoAcid: p.Arg86Cys		 Substitutions Dideoxy fingerprinting, SSCP Kolluri R et al., 1995
242 Substitutions Genomic: g.611G>A
CDS: c.257G>A
AnimoAcid: p.Arg86His		 Substitutions Dideoxy fingerprinting, SSCP Kolluri R et al., 1995
243 Substitutions Genomic: g.148G>A
CDS: c.91G>A
AnimoAcid: p.Glu31Lys		 Substitutions Dideoxy fingerprinting, SSCP Kolluri R et al., 1995
244 Deletion Genomic: g.1968delG
CDS: c.391delG
AnimoAcid: p.Glu131fs		 Deletion Dideoxy fingerprinting, SSCP Kolluri R et al., 1995
245 Substitutions Genomic: g.1974G>A
CDS: c.397G>A
AnimoAcid: p.Glu133Lys		 Substitutions Dideoxy fingerprinting, SSCP Kolluri R et al., 1995
246 Duplications Genomic: g.5203dupG
CDS: c.1271dupG
AnimoAcid: p.Leu425ProfsX70		 Duplications Dideoxy fingerprinting, SSCP Kolluri R et al., 1995
247 Substitutions Genomic: g.5611A>G
CDS: c.1426A>G
AnimoAcid: p.Lys476Glu		 Substitutions Dideoxy fingerprinting, SSCP Kolluri R et al., 1995
248 Substitutions Genomic: g.173T>C
CDS: c.116T>C
AnimoAcid: p.Leu39Pro		 Substitutions Direct sequencing, SSCP Kwan SP et al., 1995
249 Substitutions Genomic: g.577G>A
CDS: c.223G>A
AnimoAcid: p.Val75Met		 Substitutions Direct sequencing, SSCP Kwan SP et al., 1995
250 Substitutions Genomic: g.599C>T
CDS: c.245C>T
AnimoAcid: p.Ser82Phe		 Substitutions Direct sequencing, SSCP Kwan SP et al., 1995
251 Substitutions Genomic: g.1768G>C
CDS: c.291G>C
AnimoAcid: p.Trp97Cys		 Substitutions Direct sequencing, SSCP Kwan SP et al., 1995
252 Substitutions Genomic: g.1775G>T
CDS: c.298G>T
AnimoAcid: p.Glu100X		 Substitutions Direct sequencing, SSCP Kwan SP et al., 1995
253 Deletion Genomic: g.1967delC
CDS: c.390delC
AnimoAcid: p.Asp130fs		 Deletion Direct sequencing, SSCP Kwan SP et al., 1995
254 Substitutions Genomic: g.2984G>A
CDS: c.560-1G>A
AnimoAcid: 		Substitutions Direct sequencing, SSCP Kwan SP et al., 1995
255 Deletion Genomic: g.2996_2997delGG
CDS: c.571_572delGG
AnimoAcid: p.Gly191SerfsX14		 Deletion Direct sequencing, SSCP Kwan SP et al., 1995
256 Substitutions Genomic: g.4502A>G
CDS: c.778-2A>G
AnimoAcid: 		Substitutions Direct sequencing, SSCP Kwan SP et al., 1995
257 Substitutions Genomic: g.4645A>G
CDS: c.919A>G
AnimoAcid: p.Met307Val		 Substitutions Direct sequencing, SSCP Kwan SP et al., 1995
258 Substitutions Genomic: g.4659T>C
CDS: c.931+2T>C
AnimoAcid: 		Substitutions Direct sequencing, SSCP Kwan SP et al., 1995
259 Duplications Genomic: g.4933dupG
CDS: c.1001dupG
AnimoAcid: p.Gly334fsX1		 Duplications Direct sequencing, SSCP Kwan SP et al., 1995
260 Deletion Genomic: g.5017delC
CDS: c.1085delC
AnimoAcid: p.Pro362GlnfsX82		 Deletion Direct sequencing, SSCP Kwan SP et al., 1995
261 Deletion Genomic: g.531delT
CDS: c.177delT
AnimoAcid: p.Gly60GlufsX15		 Deletion Direct sequencing, Restriction enzyme analysis, SSCP Derry JM et al., 1995
262 Substitutions Genomic: g.577G>A
CDS: c.223G>A
AnimoAcid: p.Val75Met		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Derry JM et al., 1995
263 Substitutions Genomic: g.611G>T
CDS: c.257G>T
AnimoAcid: p.Arg86Leu		 Substitutions Direct sequencing, Restriction enzyme analysis Derry JM et al., 1995
264 Substitutions Genomic: g.611G>A
CDS: c.257G>A
AnimoAcid: p.Arg86His		 Substitutions Direct sequencing, Restriction enzyme analysis Derry JM et al., 1995
265 Substitutions Genomic: g.1775G>T
CDS: c.298G>T
AnimoAcid: p.Glu100X		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Derry JM et al., 1995
266 Substitutions Genomic: g.1968G>A
CDS: c.391G>A
AnimoAcid: p.Glu131Lys		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Derry JM et al., 1995
267 Substitutions Genomic: g.2338G>T
CDS: c.559G>T
AnimoAcid: p.Gly187Cys		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Derry JM et al., 1995
268 Duplications Genomic: g.3159dupA
CDS: c.734dupA
AnimoAcid: p.His246AlafsX13		 Duplications Direct sequencing, Restriction enzyme analysis, SSCP Derry JM et al., 1995
269 Duplications Genomic: g.5618dupG
CDS: c.1433dupG
AnimoAcid: p.Ser478ArgfsX16		 Duplications Direct sequencing, Restriction enzyme analysis, SSCP Derry JM et al., 1995
270 Substitutions Genomic: g.5007C>A
CDS: c.1075C>A
AnimoAcid: p.Pro359Thr		 Substitutions Direct sequencing, Restriction enzyme analysis Derry JM et al., 1995
271 Deletion Genomic: g.5008delC
CDS: c.1076delC
AnimoAcid: p.Pro360HisfsX84		 Deletion Direct sequencing, Restriction enzyme analysis Derry JM et al., 1995
272 Substitutions Genomic: g.488C>T
CDS: c.134C>T
AnimoAcid: p.Thr45Met		 Substitutions Dideoxy fingerprinting Itoh S et al., 2000
273 Substitutions Genomic: g.611G>A
CDS: c.257G>A
AnimoAcid: p.Arg86His		 Substitutions Dideoxy fingerprinting Itoh S et al., 2000
274 Substitutions Genomic: g.154C>T
CDS: c.97C>T
AnimoAcid: p.Gln33X		 Substitutions Dideoxy fingerprinting Itoh S et al., 2000
275 Substitutions Genomic: g.516C>A
CDS: c.162C>A
AnimoAcid: p.Tyr54X		 Substitutions Dideoxy fingerprinting Itoh S et al., 2000
276 Deletion Genomic: g.4257delG
CDS: c.735-1delG
AnimoAcid: 		Deletion Dideoxy fingerprinting Itoh S et al., 2000
277 Deletion Genomic: g.64delG
CDS: c.7delG
AnimoAcid: p.Gly4AlafsX40		 Deletion Dideoxy fingerprinting Itoh S et al., 2000
278 Deletion Genomic: g.4591delC
CDS: c.865delC
AnimoAcid: p.Ile290SerfsX17		 Deletion Dideoxy fingerprinting Itoh S et al., 2000
279 Substitutions Genomic: g.610C>T
CDS: c.256C>T
AnimoAcid: p.Arg86Cys		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Schindelhauer D et al., 1996
280 Substitutions Genomic: g.1968G>A
CDS: c.391G>A
AnimoAcid: p.Glu131Lys		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Schindelhauer D et al., 1996
281 Substitutions Genomic: g.521C>T
CDS: c.167C>T
AnimoAcid: p.Ala56Val		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Schindelhauer D et al., 1996
282 Substitutions Genomic: g.488C>T
CDS: c.134C>T
AnimoAcid: p.Thr45Met		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Schindelhauer D et al., 1996
283 Duplications Genomic: g.4951dupG
CDS: c.1019dupG
AnimoAcid: p.Pro341fs		 Duplications Direct sequencing, Restriction enzyme analysis, SSCP Schindelhauer D et al., 1996
284 Duplications Genomic: g.5203dupG
CDS: c.1271dupG
AnimoAcid: p.Leu425ProfsX70		 Duplications Direct sequencing, Restriction enzyme analysis, SSCP Schindelhauer D et al., 1996
285 Deletion Genomic: g.1968delG
CDS: c.391delG
AnimoAcid: p.Glu131fs		 Deletion Direct sequencing, Restriction enzyme analysis, SSCP Schindelhauer D et al., 1996
286 Substitutions Genomic: g.1944C>T
CDS: c.367C>T
AnimoAcid: p.Gln123X		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Schindelhauer D et al., 1996
287 Substitutions Genomic: g.4301G>A
CDS: c.777+1G>A
AnimoAcid: 		Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Schindelhauer D et al., 1996
288 Duplications Genomic: g.3086dupA
CDS: c.661dupA
AnimoAcid: p.Ser221LysfsX3		 Duplications Direct sequencing, Restriction enzyme analysis, SSCP Schindelhauer D et al., 1996
289 Substitutions Genomic: g.577G>A
CDS: c.223G>A
AnimoAcid: p.Val75Met		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Schwartz M et al., 1996
290 Substitutions Genomic: g.488C>T
CDS: c.134C>T
AnimoAcid: p.Thr45Met		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Schwartz M et al., 1996
291 Duplications Genomic: g.4951dupG
CDS: c.1019dupG
AnimoAcid: p.Pro341SerfsX153		 Duplications Direct sequencing, Restriction enzyme analysis, SSCP Schwartz M et al., 1996
292 Duplications Genomic: g.5203dupG
CDS: c.1271dupG
AnimoAcid: p.Leu425ProfsX70		 Duplications Direct sequencing, SSCP Schwartz M et al., 1996
293 Deletion Genomic: g.1968delG
CDS: c.391delG
AnimoAcid: p.Glu131ArgfsX74		 Deletion Direct sequencing, SSCP, Restriction enzyme analysis Schwartz M et al., 1996
294 Substitutions Genomic: g.1944C>T
CDS: c.367C>T
AnimoAcid: p.Gln123X		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Schwartz M et al., 1996
295 Duplications Genomic: g.3086dupA
CDS: c.661dupA
AnimoAcid: p.Ser221LysfsX3		 Duplications Direct sequencing, Restriction enzyme analysis, SSCP Schwartz M et al., 1996
296 Substitutions Genomic: g.3056C>T
CDS: c.631C>T
AnimoAcid: p.Arg211X		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Schwartz M et al., 1996
297 Substitutions Genomic: g.4301G>A
CDS: c.777+1G>A
AnimoAcid: 		Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Schwartz M et al., 1996
298 Substitutions Genomic: g.4558G>T
CDS: c.832G>T
AnimoAcid: p.Glu278X		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Schwartz M et al., 1996
299 Substitutions Genomic: g.4893C>T
CDS: c.961C>T
AnimoAcid: p.Arg321X		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Schwartz M et al., 1996
300 Substitutions Genomic: g.521C>T
CDS: c.167C>T
AnimoAcid: p.Ala56Val		 Substitutions Dideoxy fingerprinting, PCR based assay, Restriction enzyme analysis Villa A et al., 1995
301 Substitutions Genomic: g.3132C>G
CDS: c.707C>G
AnimoAcid: p.Ala236Gly		 Substitutions Dideoxy fingerprinting, PCR based assay, Restriction enzyme analysis Villa A et al., 1995
302 Duplications Genomic: g.2168dupC
CDS: c.482dupC
AnimoAcid: p.Pro162ThrfsX6		 Duplications Dideoxy fingerprinting, PCR based assay Villa A et al., 1995
303 Deletion Genomic: g.145_147delCAC
CDS: c.88_90delCAC
AnimoAcid: p.His30del		 Deletion Dideoxy fingerprinting, SSCP Kolluri R et al., 1995
304 Substitutions Genomic: g.577G>A
CDS: c.223G>A
AnimoAcid: p.Val75Met		 Substitutions Dideoxy fingerprinting, SSCP Kolluri R et al., 1995
305 Substitutions Genomic: g.136C>T
CDS: c.79C>T
AnimoAcid: p.Leu27Phe		 Substitutions Direct sequencing, Restriction enzyme analysis Derry JM et al., 1995
306 Substitutions Genomic: g.157C>T
CDS: c.100C>T
AnimoAcid: p.Arg34X		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Derry JM et al., 1995
307 Substitutions Genomic: g.5615G>A
CDS: c.1430G>A
AnimoAcid: p.Arg477Lys		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Derry JM et al., 1995
308 Substitutions Genomic: g.610C>T
CDS: c.256C>T
AnimoAcid: p.Arg86Cys		 Substitutions Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1995
309 Substitutions Genomic: g.494C>A
CDS: c.140C>A
AnimoAcid: p.Ala47Asp		 Substitutions Dideoxy fingerprinting, Direct sequencing, PCR based assay Zhu Q et al., 1995
310 Substitutions Genomic: g.75G>A
CDS: c.18G>A
AnimoAcid: p.Met6Ile		 Substitutions Dideoxy fingerprinting Itoh S et al., 2000
311 Substitutions Genomic: g.604T>C
CDS: c.250T>C
AnimoAcid: p.Phe84Leu		 Substitutions Direct sequencing Qasim W et al., 2001
312 Duplications Genomic: g.4546dupG
CDS: c.820dupG
AnimoAcid: p.Ala274GlyfsX14		 Duplications Direct sequencing Qasim W et al., 2001
313 Substitutions Genomic: g.3132C>G
CDS: c.707C>G
AnimoAcid: p.Ala236Gly		 Substitutions Direct sequencing, SSCP Allavena P et al., 2001
314 Substitutions Genomic: g.611G>A
CDS: c.257G>A
AnimoAcid: p.Arg86His		 Substitutions Direct sequencing Falet H et al., 2002
315 Substitutions Genomic: g.2343G>A
CDS: c.559+5G>A
AnimoAcid: 		Substitutions Direct sequencing Inoue H et al., 2002
316 Substitutions Genomic: g.521C>T
CDS: c.167C>T
AnimoAcid: p.Ala56Val		 Substitutions Direct sequencing Imai K et al., 2004
317 Substitutions Genomic: g.527C>G
CDS: c.173C>G
AnimoAcid: p.Pro58Arg		 Substitutions Direct sequencing, SSCP Notarangelo LD et al., 2002
318 Substitutions Genomic: g.5627T>A
CDS: c.1442T>A
AnimoAcid: p.Ile481Asn		 Substitutions Direct sequencing, SSCP Notarangelo LD et al., 2002
319 Substitutions Genomic: g.4608T>C
CDS: c.882T>C
AnimoAcid: p.Ile294Thr		 Substitutions Direct sequencing Beel K et al., 2009
320 Substitutions Genomic: g.4608T>C
CDS: c.882T>C
AnimoAcid: p.Ile294Thr		 Substitutions Direct sequencing, Restriction enzyme analysis Ancliff PJ et al., 2006
321 Substitutions Genomic: g.4540T>C
CDS: c.814T>C
AnimoAcid: p.Ser272Pro		 Substitutions Direct sequencing, Restriction enzyme analysis Ancliff PJ et al., 2006
322 Substitutions Genomic: g.94C>T
CDS: c.37C>T
AnimoAcid: p.Arg13X		 Substitutions PCR based assay Lee WI et al., 2008
323 Deletion Genomic: g.102_105delACCA
CDS: c.45_48delACCA
AnimoAcid: p.Pro16ArgfsX27		 Deletion PCR based assay Lee WI et al., 2008
324 Substitutions Genomic: g.148G>A
CDS: c.91G>A
AnimoAcid: p.Glu31Lys		 Substitutions PCR based assay Lee WI et al., 2008
325 Substitutions Genomic: g.178C>T
CDS: c.121C>T
AnimoAcid: p.Arg41X		 Substitutions PCR based assay Lee WI et al., 2008
326 Substitutions Genomic: g.599C>T
CDS: c.245C>T
AnimoAcid: p.Ser82Phe		 Substitutions PCR based assay Lee WI et al., 2008
327 Duplications Genomic: g.4953dupC
CDS: c.1021dupC
AnimoAcid: p.Leu342ThrfsX152		 Duplications PCR based assay Lee WI et al., 2008
328 Substitutions Genomic: g.7313A>G
CDS: c.1454A>G
AnimoAcid: p.Asp485Gly		 Substitutions Direct sequencing, SSCP Andreu N et al., 2007
329 Deletion Genomic: g.586delA
CDS: c.232delA
AnimoAcid: p.Asn78ThrfsX48		 Deletion Direct sequencing, SSCP Andreu N et al., 2007
330 Deletion Genomic: g.5029delG
CDS: c.1097delG
AnimoAcid: p.Gly366AlafsX78		 Deletion Direct sequencing Ariga T et al., 1998
331 Substitutions Genomic: g.2340T>G
CDS: c.559+2T>G
AnimoAcid: 		Substitutions Direct sequencing, PCR based assay, SSCP Andreu N et al., 2003
332 Deletion Genomic: g.145_147delCAC
CDS: c.88_90delCAC
AnimoAcid: p.His30del		 Deletion Direct sequencing, SSCP El-Hakeh J et al., 2002
333 Substitutions Genomic: g.178C>T
CDS: c.121C>T
AnimoAcid: p.Arg41X		 Substitutions Direct sequencing, SSCP El-Hakeh J et al., 2002
334 Substitutions Genomic: g.510G>C
CDS: c.156G>C
AnimoAcid: p.Gln52His		 Substitutions Direct sequencing, SSCP El-Hakeh J et al., 2002
335 Substitutions Genomic: g.577G>A
CDS: c.223G>A
AnimoAcid: p.Val75Met		 Substitutions Direct sequencing, SSCP El-Hakeh J et al., 2002
336 Substitutions Genomic: g.562G>T
CDS: c.208G>T
AnimoAcid: p.Gly70Trp		 Substitutions Direct sequencing, SSCP El-Hakeh J et al., 2002
337 Deletion Genomic: g.2168delC
CDS: c.482delC
AnimoAcid: p.Pro161HisfsX99		 Deletion Direct sequencing, SSCP El-Hakeh J et al., 2002
338 Substitutions Genomic: g.4301G>C
CDS: c.777+1G>C
AnimoAcid: 		Substitutions Direct sequencing, SSCP El-Hakeh J et al., 2002
339 Substitutions Genomic: g.1974G>A
CDS: c.397G>A
AnimoAcid: p.Glu133Lys		 Substitutions Direct sequencing, SSCP El-Hakeh J et al., 2002
340 Deletion Genomic: g.4617delG
CDS: c.891delG
AnimoAcid: p.Gly298ValfsX9		 Deletion Direct sequencing, SSCP El-Hakeh J et al., 2002
341 Deletion Genomic: g.4933delG
CDS: c.1001delG
AnimoAcid: p.Gly334ValfsX110		 Deletion Direct sequencing, SSCP El-Hakeh J et al., 2002
342 Deletion Genomic: g.4984delC
CDS: c.1052delC
AnimoAcid: p.Pro351fs		 Deletion Direct sequencing, SSCP El-Hakeh J et al., 2002
343 Substitutions Genomic: g.629T>C
CDS: c.273+2T>C
AnimoAcid: 		Substitutions Direct sequencing, SSCP El-Hakeh J et al., 2002
344 Substitutions Genomic: g.610C>T
CDS: c.256C>T
AnimoAcid: p.Arg86Cys		 Substitutions Direct sequencing, SSCP El-Hakeh J et al., 2002
345 Substitutions Genomic: g.488C>T
CDS: c.134C>T
AnimoAcid: p.Thr45Met		 Substitutions Direct sequencing Jin Y et al., 2004
346 Substitutions Genomic: g.521C>T
CDS: c.167C>T
AnimoAcid: p.Ala56Val		 Substitutions Direct sequencing Jin Y et al., 2004
347 Substitutions Genomic: g.526C>G
CDS: c.172C>G
AnimoAcid: p.Pro58Ala		 Substitutions Direct sequencing Jin Y et al., 2004
348 Substitutions Genomic: g.544T>C
CDS: c.190T>C
AnimoAcid: p.Trp64Arg		 Substitutions Direct sequencing Jin Y et al., 2004
349 Substitutions Genomic: g.572G>A
CDS: c.218G>A
AnimoAcid: p.Cys73Tyr		 Substitutions Direct sequencing Jin Y et al., 2004
350 Substitutions Genomic: g.575T>C
CDS: c.221T>C
AnimoAcid: p.Phe74Ser		 Substitutions Direct sequencing Jin Y et al., 2004
351 Substitutions Genomic: g.577G>A
CDS: c.223G>A
AnimoAcid: p.Val75Met		 Substitutions Direct sequencing Jin Y et al., 2004
352 Substitutions Genomic: g.581A>C
CDS: c.227A>C
AnimoAcid: p.Lys76Thr		 Substitutions Direct sequencing Jin Y et al., 2004
353 Substitutions Genomic: g.583G>C
CDS: c.229G>C
AnimoAcid: p.Asp77His		 Substitutions Direct sequencing Jin Y et al., 2004
354 Substitutions Genomic: g.584A>G
CDS: c.230A>G
AnimoAcid: p.Asp77Gly		 Substitutions Direct sequencing Jin Y et al., 2004
355 Substitutions Genomic: g.598T>C
CDS: c.244T>C
AnimoAcid: p.Ser82Pro		 Substitutions Direct sequencing Jin Y et al., 2004
356 Substitutions Genomic: g.610C>A
CDS: c.256C>A
AnimoAcid: p.Arg86Ser		 Substitutions Direct sequencing Jin Y et al., 2004
357 Substitutions Genomic: g.610C>G
CDS: c.256C>G
AnimoAcid: p.Arg86Gly		 Substitutions Direct sequencing Jin Y et al., 2004
358 Substitutions Genomic: g.610C>T
CDS: c.256C>T
AnimoAcid: p.Arg86Cys		 Substitutions Direct sequencing Jin Y et al., 2004
359 Substitutions Genomic: g.611G>A
CDS: c.257G>A
AnimoAcid: p.Arg86His		 Substitutions Direct sequencing Jin Y et al., 2004
360 Substitutions Genomic: g.611G>T
CDS: c.257G>T
AnimoAcid: p.Arg86Leu		 Substitutions Direct sequencing Jin Y et al., 2004
361 Substitutions Genomic: g.1767G>A
CDS: c.290G>A
AnimoAcid: p.Trp97X		 Substitutions Direct sequencing Jin Y et al., 2004
362 Substitutions Genomic: g.1772C>T
CDS: c.295C>T
AnimoAcid: p.Gln99X		 Substitutions Direct sequencing Jin Y et al., 2004
363 Substitutions Genomic: g.1777G>T
CDS: c.300G>T
AnimoAcid: p.Glu100Asp		 Substitutions Direct sequencing Jin Y et al., 2004
364 Substitutions Genomic: g.1791T>C
CDS: c.314T>C
AnimoAcid: p.Leu105Pro		 Substitutions Direct sequencing Jin Y et al., 2004
365 Substitutions Genomic: g.1833G>A
CDS: c.356G>A
AnimoAcid: p.Gly119Glu		 Substitutions Direct sequencing Jin Y et al., 2004
366 Substitutions Genomic: g.1954T>C
CDS: c.377T>C
AnimoAcid: p.Leu126Pro		 Substitutions Direct sequencing Jin Y et al., 2004
367 Substitutions Genomic: g.1943C>A
CDS: c.366C>A
AnimoAcid: p.Cys122X		 Substitutions Direct sequencing Jin Y et al., 2004
368 Substitutions Genomic: g.1959T>C
CDS: c.382T>C
AnimoAcid: p.Phe128Leu		 Substitutions Direct sequencing Jin Y et al., 2004
369 Substitutions Genomic: g.1974G>A
CDS: c.397G>A
AnimoAcid: p.Glu133Lys		 Substitutions Direct sequencing Jin Y et al., 2004
370 Substitutions Genomic: g.1976G>T
CDS: c.399G>T
AnimoAcid: p.Glu133Asp		 Substitutions Direct sequencing Jin Y et al., 2004
371 Substitutions Genomic: g.3056C>T
CDS: c.631C>T
AnimoAcid: p.Arg211X		 Substitutions Direct sequencing Jin Y et al., 2004
372 Substitutions Genomic: g.3108C>G
CDS: c.683C>G
AnimoAcid: p.Ser228X		 Substitutions Direct sequencing Jin Y et al., 2004
373 Substitutions Genomic: g.4642G>T
CDS: c.916G>T
AnimoAcid: p.Glu306X		 Substitutions Direct sequencing Jin Y et al., 2004
374 Substitutions Genomic: g.4893C>T
CDS: c.961C>T
AnimoAcid: p.Arg321X		 Substitutions Direct sequencing Jin Y et al., 2004
375 Substitutions Genomic: g.5013C>A
CDS: c.1081C>A
AnimoAcid: p.Pro361Thr		 Substitutions Direct sequencing Jin Y et al., 2004
376 Substitutions Genomic: g.5022C>T
CDS: c.1090C>T
AnimoAcid: p.Arg364X		 Substitutions Direct sequencing Jin Y et al., 2004
377 Substitutions Genomic: g.628G>A
CDS: c.273+1G>A
AnimoAcid: 		Substitutions Direct sequencing Jin Y et al., 2004
378 Substitutions Genomic: g.628G>T
CDS: c.273+1G>T
AnimoAcid: 		Substitutions Direct sequencing Jin Y et al., 2004
379 Substitutions Genomic: g.1750G>A
CDS: c.274-1G>A
AnimoAcid: 		Substitutions Direct sequencing Jin Y et al., 2004
380 Substitutions Genomic: g.2143T>G
CDS: c.464-7T>G
AnimoAcid: 		Substitutions Direct sequencing Jin Y et al., 2004
381 Substitutions Genomic: g.2340T>G
CDS: c.559+2T>G
AnimoAcid: 		Substitutions Direct sequencing Jin Y et al., 2004
382 Substitutions Genomic: g.2343G>A
CDS: c.559+5G>A
AnimoAcid: 		Substitutions Direct sequencing Jin Y et al., 2004
383 Substitutions Genomic: g.3160G>T
CDS: c.734+1G>T
AnimoAcid: 		Substitutions Direct sequencing Jin Y et al., 2004
384 Substitutions Genomic: g.3160G>A
CDS: c.734+1G>A
AnimoAcid: 		Substitutions Direct sequencing Jin Y et al., 2004
385 Substitutions Genomic: g.4301G>A
CDS: c.777+1G>A
AnimoAcid: 		Substitutions Direct sequencing Jin Y et al., 2004
386 Substitutions Genomic: g.4301G>C
CDS: c.777+1G>C
AnimoAcid: 		Substitutions Direct sequencing Jin Y et al., 2004
387 Deletion Genomic: g.4301_4304delGTGA
CDS: c.777+1_777+4delGTGA
AnimoAcid: 		Deletion Direct sequencing Jin Y et al., 2004
388 Substitutions Genomic: g.4305G>A
CDS: c.777+5G>A
AnimoAcid: 		Substitutions Direct sequencing Jin Y et al., 2004
389 Substitutions Genomic: g.4502A>G
CDS: c.778-2A>G
AnimoAcid: 		Substitutions Direct sequencing Jin Y et al., 2004
390 Substitutions Genomic: g.4658G>A
CDS: c.931+1G>A
AnimoAcid: 		Substitutions Direct sequencing Jin Y et al., 2004
391 Deletion Genomic: g.4659_4662delTGAG
CDS: c.931+2_931+5delTGAG
AnimoAcid: 		Deletion Direct sequencing Jin Y et al., 2004
392 Substitutions Genomic: g.4659T>G
CDS: c.931+2T>G
AnimoAcid: 		Substitutions Direct sequencing Jin Y et al., 2004
393 Substitutions Genomic: g.5522A>C
CDS: c.1339-2A>C
AnimoAcid: 		Substitutions Direct sequencing Jin Y et al., 2004
394 Substitutions Genomic: g.485A>G
CDS: c.133-2A>G
AnimoAcid: 		Substitutions Direct sequencing Jin Y et al., 2004
395 Substitutions Genomic: g.1779T>G
CDS: c.302T>G
AnimoAcid: p.Leu101Arg		 Substitutions Direct sequencing, PCR based assay Proust A et al., 2007
396 Substitutions Genomic: g.1819C>G
CDS: c.342C>G
AnimoAcid: p.Phe114Leu		 Substitutions Direct sequencing, PCR based assay Proust A et al., 2007
397 Substitutions Genomic: g.1817T>A
CDS: c.340T>A
AnimoAcid: p.Phe114Ile		 Substitutions Direct sequencing, PCR based assay Proust A et al., 2007
398 Substitutions Genomic: g.1832G>A
CDS: c.355G>A
AnimoAcid: p.Gly119Arg		 Substitutions Direct sequencing, PCR based assay Proust A et al., 2007
399 Substitutions Genomic: g.1974G>C
CDS: c.397G>C
AnimoAcid: p.Glu133Gln		 Substitutions Direct sequencing, PCR based assay Proust A et al., 2007
400 Substitutions Genomic: g.4927T>C
CDS: c.995T>C
AnimoAcid: p.Val332Ala		 Substitutions Direct sequencing, PCR based assay Proust A et al., 2007
401 Substitutions Genomic: g.5614A>G
CDS: c.1429A>G
AnimoAcid: p.Arg477Gly		 Substitutions Direct sequencing, PCR based assay Proust A et al., 2007
402 Substitutions Genomic: g.2332C>T
CDS: c.553C>T
AnimoAcid: p.Gln185X		 Substitutions Direct sequencing, PCR based assay Proust A et al., 2007
403 Insertion Genomic: g.87_88insT
CDS: c.30_31insT
AnimoAcid: p.Gly11TrpfsX26		 Insertion Direct sequencing, PCR based assay Proust A et al., 2007
404 Duplications Genomic: g.501dupA
CDS: c.147dupA
AnimoAcid: p.Val50SerfsX12		 Duplications Direct sequencing, PCR based assay Proust A et al., 2007
405 Deletion Genomic: g.514_519del
CDS: c.160_165del
AnimoAcid: p.Tyr54_Leu55del		 Deletion Direct sequencing, PCR based assay Proust A et al., 2007
406 Deletion Genomic: g.1778_1789del
CDS: c.301_312del
AnimoAcid: p.Leu101_Gln104del		 Deletion Direct sequencing, PCR based assay Proust A et al., 2007
407 Deletion Genomic: g.3053delT
CDS: c.628delT
AnimoAcid: p.Ser210HisfsX50		 Deletion Direct sequencing, PCR based assay Proust A et al., 2007
408 Duplications Genomic: g.4916_4917dupGC
CDS: c.984_985dupGC
AnimoAcid: p.Pro329ArgfsX116		 Duplications Direct sequencing, PCR based assay Proust A et al., 2007
409 Deletion Genomic: g.5018delA
CDS: c.1086delA
AnimoAcid: p.Gly363AlafsX81		 Deletion Direct sequencing, PCR based assay Proust A et al., 2007
410 Duplications Genomic: g.5029dupG
CDS: c.1097dupG
AnimoAcid: p.Pro368SerfsX126		 Duplications Direct sequencing, PCR based assay Proust A et al., 2007
411 Deletion Genomic: g.5048delT
CDS: c.1116delT
AnimoAcid: p.Pro373GlnfsX71		 Deletion Direct sequencing, PCR based assay Proust A et al., 2007
412 Duplications Genomic: g.5218_5221dup
CDS: c.1286_1289dup
AnimoAcid: p.Arg431GlyfsX65		 Duplications Direct sequencing, PCR based assay Proust A et al., 2007
413 Deletion Genomic: g.5227delG
CDS: c.1295delG
AnimoAcid: p.Gly432GlufsX12		 Deletion Direct sequencing, PCR based assay Proust A et al., 2007
414 Deletion Genomic: g.5614_5618del
CDS: c.1429_1433del
AnimoAcid: p.Arg477GlnfsX15		 Deletion Direct sequencing, PCR based assay Proust A et al., 2007
415 Substitutions Genomic: g.1838G>T
CDS: c.360+1G>T
AnimoAcid: 		Substitutions Direct sequencing, PCR based assay Proust A et al., 2007
416 Substitutions Genomic: g.1935C>G
CDS: c.361-3C>G
AnimoAcid: 		Substitutions Direct sequencing, PCR based assay Proust A et al., 2007
417 Substitutions Genomic: g.4305G>C
CDS: c.777+5G>C
AnimoAcid: 		Substitutions Direct sequencing, PCR based assay Proust A et al., 2007
418 Substitutions Genomic: g.5639G>C
CDS: c.1453+1G>C
AnimoAcid: 		Substitutions Direct sequencing, PCR based assay Proust A et al., 2007
419 Substitutions Genomic: g.5642A>G
CDS: c.1453+4A>G
AnimoAcid: 		Substitutions Direct sequencing, PCR based assay Proust A et al., 2007
420 Substitutions Genomic: g.7366T>C
CDS: c.1507T>C
AnimoAcid: p.X503ArgextX*80		 Substitutions Direct sequencing, PCR based assay Proust A et al., 2007
421 Substitutions Genomic: g.94C>T
CDS: c.37C>T
AnimoAcid: p.Arg13X		 Substitutions Direct sequencing, PCR based assay Proust A et al., 2007
422 Substitutions Genomic: g.148G>A
CDS: c.91G>A
AnimoAcid: p.Glu31Lys		 Substitutions Direct sequencing, PCR based assay Proust A et al., 2007
423 Substitutions Genomic: g.178C>T
CDS: c.121C>T
AnimoAcid: p.Arg41X		 Substitutions Direct sequencing, PCR based assay Proust A et al., 2007
424 Substitutions Genomic: g.628G>A
CDS: c.273+1G>A
AnimoAcid: 		Substitutions Direct sequencing, PCR based assay Proust A et al., 2007
425 Substitutions Genomic: g.628G>T
CDS: c.273+1G>T
AnimoAcid: 		Substitutions Direct sequencing, PCR based assay Proust A et al., 2007
426 Substitutions Genomic: g.1750G>A
CDS: c.274-1G>A
AnimoAcid: 		Substitutions Direct sequencing, PCR based assay Proust A et al., 2007
427 Substitutions Genomic: g.488C>T
CDS: c.134C>T
AnimoAcid: p.Thr45Met		 Substitutions Direct sequencing, PCR based assay Proust A et al., 2007
428 Substitutions Genomic: g.577G>A
CDS: c.223G>A
AnimoAcid: p.Val75Met		 Substitutions Direct sequencing, PCR based assay Proust A et al., 2007
429 Substitutions Genomic: g.611G>A
CDS: c.257G>A
AnimoAcid: p.Arg86His		 Substitutions Direct sequencing, PCR based assay Proust A et al., 2007
430 Substitutions Genomic: g.610C>T
CDS: c.256C>T
AnimoAcid: p.Arg86Cys		 Substitutions Direct sequencing, PCR based assay Proust A et al., 2007
431 Substitutions Genomic: g.618C>A
CDS: c.264C>A
AnimoAcid: p.Tyr88X		 Substitutions Direct sequencing Proust A et al., 2007
432 Substitutions Genomic: g.1767G>A
CDS: c.290G>A
AnimoAcid: p.Trp97X		 Substitutions Direct sequencing Proust A et al., 2007
433 Substitutions Genomic: g.1775G>T
CDS: c.298G>T
AnimoAcid: p.Glu100X		 Substitutions Direct sequencing Proust A et al., 2007
434 Substitutions Genomic: g.1968G>A
CDS: c.391G>A
AnimoAcid: p.Glu131Lys		 Substitutions Direct sequencing Proust A et al., 2007
435 Substitutions Genomic: g.1974G>A
CDS: c.397G>A
AnimoAcid: p.Glu133Lys		 Substitutions Direct sequencing Proust A et al., 2007
436 Substitutions Genomic: g.1838G>A
CDS: c.360+1G>A
AnimoAcid: 		Substitutions Direct sequencing Proust A et al., 2007
437 Substitutions Genomic: g.1937G>A
CDS: c.361-1G>A
AnimoAcid: 		Substitutions Direct sequencing Proust A et al., 2007
438 Substitutions Genomic: g.1977G>A
CDS: c.400G>A
AnimoAcid: p.Ala134Thr		 Substitutions Direct sequencing Proust A et al., 2007
439 Substitutions Genomic: g.2343G>A
CDS: c.559+5G>A
AnimoAcid: 		Substitutions Direct sequencing Proust A et al., 2007
440 Substitutions Genomic: g.1978C>T
CDS: c.401C>T
AnimoAcid: p.Ala134Val		 Substitutions Direct sequencing Proust A et al., 2007
441 Substitutions Genomic: g.3056C>T
CDS: c.631C>T
AnimoAcid: p.Arg211X		 Substitutions Direct sequencing Proust A et al., 2007
442 Substitutions Genomic: g.3096A>G
CDS: c.671A>G
AnimoAcid: p.Asp224Gly		 Substitutions Direct sequencing Proust A et al., 2007
443 Substitutions Genomic: g.4301G>A
CDS: c.777+1G>A
AnimoAcid: 		Substitutions Direct sequencing Proust A et al., 2007
444 Deletion Genomic: g.4301_4304delGTGA
CDS: c.777+1_777+4delGTGA
AnimoAcid: 		Deletion Direct sequencing Proust A et al., 2007
445 Substitutions Genomic: g.4893C>T
CDS: c.961C>T
AnimoAcid: p.Arg321X		 Substitutions Direct sequencing Proust A et al., 2007
446 Substitutions Genomic: g.5022C>T
CDS: c.1090C>T
AnimoAcid: p.Arg364X		 Substitutions Direct sequencing Proust A et al., 2007
447 Substitutions Genomic: g.5638G>A
CDS: c.1453G>A
AnimoAcid: p.Asp485Asn		 Substitutions Direct sequencing Proust A et al., 2007
448 Substitutions Genomic: g.497C>T
CDS: c.143C>T
AnimoAcid: p.Thr48Ile		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Derry JM et al., 1995
449 Substitutions Genomic: g.178C>T
CDS: c.121C>T
AnimoAcid: p.Arg41X		 Substitutions Direct sequencing, PCR based assay Lee PP et al., 2009
450 Substitutions Genomic: g.2158C>T
CDS: c.472C>T
AnimoAcid: p.Gln158X		 Substitutions Direct sequencing, PCR based assay Lee PP et al., 2009
451 Substitutions Genomic: g.3056C>T
CDS: c.631C>T
AnimoAcid: p.Arg211X		 Substitutions Direct sequencing, PCR based assay Lee PP et al., 2009
452 Substitutions Genomic: g.5539G>T
CDS: c.1354G>T
AnimoAcid: p.Glu452X		 Substitutions Direct sequencing, PCR based assay Lee PP et al., 2009
453 Deletion Genomic: g.1827delT
CDS: c.350delT
AnimoAcid: p.Phe117SerfsX126		 Deletion Direct sequencing, PCR based assay Lee PP et al., 2009
454 Deletion Genomic: g.1987_1996delTCCGGGCCCT
CDS: c.410_419delTCCGGGCCCT
AnimoAcid: p.Phe137fsX257		 Deletion Direct sequencing, PCR based assay Lee PP et al., 2009
455 Deletion Genomic: g.2013delC
CDS: c.436delC
AnimoAcid: p.Gln146fsX260		 Deletion Direct sequencing, PCR based assay Lee PP et al., 2009
456 Deletion Genomic: g.2991delC
CDS: c.566delC
AnimoAcid: p.Pro189fsX260		 Deletion Direct sequencing, PCR based assay Lee PP et al., 2009
457 Deletion Genomic: g.3012_3013delGG
CDS: c.587_588delGG
AnimoAcid: p.Gly196fsX205		 Deletion Direct sequencing, PCR based assay Lee PP et al., 2009
458 Insertion Genomic: g.3076_3077insCGCA
CDS: c.651_652insCGCA
AnimoAcid: p.Pro218fsX222		 Insertion Direct sequencing, PCR based assay Lee PP et al., 2009
459 Insertion Genomic: g.3084_3085insCAGCACCTGGACC
CDS: c.659_660insCAGCACCTGGACC
AnimoAcid: p.Pro220fsX225		 Insertion Direct sequencing, PCR based assay Lee PP et al., 2009
460 Deletion Genomic: g.4882delC
CDS: c.950delC
AnimoAcid: p.Pro317fsX444		 Deletion Direct sequencing, PCR based assay Lee PP et al., 2009
461 Insertion Genomic: g.4927_4928insT
CDS: c.995_996insT
AnimoAcid: p.Val332fsX335		 Insertion Direct sequencing, PCR based assay Lee PP et al., 2009
462 Deletion Genomic: g.4938_4939delAA
CDS: c.1006_1007delAA
AnimoAcid: p.Lys336GlyfsX168		 Deletion Direct sequencing, PCR based assay Lee PP et al., 2009
463 Deletion Genomic: g.5024delA
CDS: c.1092delA
AnimoAcid: p.Arg364fsX444		 Deletion Direct sequencing, PCR based assay Lee PP et al., 2009
464 Deletion Genomic: g.5193_5203delCCTGCCGGGGG
CDS: c.1261_1271delCCTGCCGGGGG
AnimoAcid: p.Pro421fsX490		 Deletion Direct sequencing, PCR based assay Lee PP et al., 2009
465 Insertion Genomic: g.190_191insACGAAAATGCTTGG
CDS: c.132+1_132+2insACGAAAATGCTTGG
AnimoAcid: p.Thr45fsX66		 Insertion Direct sequencing, PCR based assay Lee PP et al., 2009
466 Substitutions Genomic: g.190G>T
CDS: c.132+1G>T
AnimoAcid: 		Substitutions Direct sequencing, PCR based assay Lee PP et al., 2009
467 Substitutions Genomic: g.1838G>T
CDS: c.360+1G>T
AnimoAcid: 		Substitutions Direct sequencing, PCR based assay Lee PP et al., 2009
468 Substitutions Genomic: g.4257G>A
CDS: c.735-1G>A
AnimoAcid: p.[Lys245fsX246, Lys245fsX260]		 Substitutions Direct sequencing, PCR based assay Lee PP et al., 2009
469 Deletion Genomic: g.4257delG
CDS: c.735-1delG
AnimoAcid: 		Deletion Direct sequencing, PCR based assay Lee PP et al., 2009
470 Deletion Genomic: g.4303_4306delGAGT
CDS: c.777+3_777+6delGAGT
AnimoAcid: 		Deletion Direct sequencing, PCR based assay Lee PP et al., 2009
471 Substitutions Genomic: g.4302T>C
CDS: c.777+2T>C
AnimoAcid: p.Val260fsX392		 Substitutions Direct sequencing, PCR based assay Lee PP et al., 2009
472 Substitutions Genomic: g.5639G>C
CDS: c.1453+1G>C
AnimoAcid: 		Substitutions Direct sequencing, PCR based assay Lee PP et al., 2009
473 Substitutions Genomic: g.571T>C
CDS: c.217T>C
AnimoAcid: p.Cys73Arg		 Substitutions Direct sequencing, PCR based assay Lee PP et al., 2009
474 Substitutions Genomic: g.92G>C
CDS: c.35G>C
AnimoAcid: p.Gly12Ala		 Substitutions Direct sequencing, PCR based assay Lee PP et al., 2009
475 Insertion Genomic: g.5203_5204insG
CDS: c.1271_1272insG
AnimoAcid: p.Leu425ProfsX70		 Insertion Direct sequencing Wada T et al., 2003
476 Deletion Genomic: g.5197_5214del
CDS: c.1265_1282del
AnimoAcid: 		Deletion Direct sequencing Wada T et al., 2003
477 Deletion Genomic: g.119delA
CDS: c.62delA
AnimoAcid: p.Asn21fsX44		 Deletion Direct sequencing, PCR based assay Lee PP et al., 2009
478 Substitutions Genomic: g.611G>A
CDS: c.257G>A
AnimoAcid: p.Arg86His		 Substitutions NA Shcherbina A et al., 2009
479 Substitutions Genomic: g.4301G>A
CDS: c.777+1G>A
AnimoAcid: 		Substitutions NA Shcherbina A et al., 2009
480 Duplications Genomic: g.1839dupT
CDS: c.360+2dupT
AnimoAcid: 		Duplications NA Shcherbina A et al., 2009
481 Deletion Genomic: g.1852_?del323
CDS: c.360+15_?del323
AnimoAcid: 		Deletion NA Shcherbina A et al., 2009
482 Substitutions Genomic: g.2343G>A
CDS: c.559+5G>A
AnimoAcid: 		Substitutions NA Shcherbina A et al., 2009
483 Insertion Genomic: g.2162insA
CDS: c.476insA
AnimoAcid: 		Insertion NA Shcherbina A et al., 2009
484 Deletion Genomic: g.4303_4306delGAGT
CDS: c.777+3_777+6delGAGT
AnimoAcid: 		Deletion NA Shcherbina A et al., 2009
485 Deletion Genomic: g.5237delG
CDS: c.1305delG
AnimoAcid: 		Deletion NA Shcherbina A et al., 2009
486 Substitutions Genomic: g.58A>T
CDS: c.1A>T
AnimoAcid: p.Met1_Pro5del		 Substitutions Direct sequencing Du W et al., 2006
487 Insertion Genomic: g.1977_1978insACGAGG
CDS: c.400_401insACGAGG
AnimoAcid: p.Glu133_Ala134insAspGlu		 Insertion Direct sequencing Wada T et al., 2001
488 Insertion Genomic: g.1977_1978insACGAGG
CDS: c.400_401insACGAGG
AnimoAcid: p.Glu133_Ala134insAspGlu		 Insertion Direct sequencing Wada T et al., 2004
489 Deletion-Insertion Genomic: g.58-?_2861del15800ins7
CDS:
AnimoAcid: 		Deletion-Insertion Direct sequencing, Southern blotting Lutskiy MI et al., 2002
490 Substitutions Genomic: g.5638G>A
CDS: c.1453G>A
AnimoAcid: p.Asp485Asn		 Substitutions PCR based assay Kanegane H et al., 2000
491 Deletion Genomic: g.4659_4662delTGAG
CDS: c.931+2_931+5delTGAG
AnimoAcid: 		Deletion NA Locci M et al., 2009
492 Substitutions Genomic: g.1974G>A
CDS: c.397G>A
AnimoAcid: p.Glu133Lys		 Substitutions NA Locci M et al., 2009
493 Substitutions Genomic: g.173T>C
CDS: c.116T>C
AnimoAcid: p.Leu39Pro		 Substitutions NA Locci M et al., 2009
494 Substitutions Genomic: g.178C>T
CDS: c.121C>T
AnimoAcid: p.Arg41X		 Substitutions NA Locci M et al., 2009
495 Substitutions Genomic: g.5638G>A
CDS: c.1453G>A
AnimoAcid: p.Asp485Asn		 Substitutions NA Locci M et al., 2009
496 Duplications Genomic: g.5136_5137dupC
CDS: c.1204_1205dupC
AnimoAcid: p.Pro403Alafs		 Duplications NA Locci M et al., 2009
497 Deletion Genomic: c.(?_-30)_(*220_?)del
CDS:
AnimoAcid: 		Deletion NA Locci M et al., 2009
498 Substitutions Genomic: g.611G>A
CDS: c.257G>A
AnimoAcid: p.Arg86His		 Substitutions Direct sequencing Andreu N et al., 2003
499 Deletion Genomic: g.5193_5203delCCTGCCGGGGG
CDS: c.1261_1271delCCTGCCGGGGG
AnimoAcid: p.Ala422Glyfs		 Deletion Denaturing gradient gel electrophoresis, SSCP SY Chan etal., Hum. Mutat. 1999
500 Substitutions Genomic: g.148G>A
CDS: c.91G>A
AnimoAcid: p.Glu31Lys		 Substitutions Direct sequencing Ariga T et al., 1999
501 Substitutions Genomic: g.2191G>T
CDS: c.505G>T
AnimoAcid: p.[Asp155_Glu169del, Glu169X]		 Substitutions Direct sequencing Imai K et al., 2004
502 Deletion Genomic: g.4882delC
CDS: c.950delC
AnimoAcid: p.Pro317HisfsX128		 Deletion Direct sequencing Jiang LP et al., 2003
503 Substitutions Genomic: g.5539G>T
CDS: c.1354G>T
AnimoAcid: p.Glu452X		 Substitutions Direct sequencing Jiang LP et al., 2003
504 Deletion Genomic: g.5220_5227del8
CDS: c.1288_1295del8
AnimoAcid: p.Gly430SerfsX62		 Deletion Direct sequencing Kim JK et al., 2010
505 Substitutions Genomic: g.62G>C
CDS: c.5G>C
AnimoAcid: p.Ser2Thr		 Substitutions Direct sequencing Albert MH et al., 2010
506 Substitutions Genomic: g.75G>A
CDS: c.18G>A
AnimoAcid: p.Met6Ile		 Substitutions Direct sequencing Albert MH et al., 2010
507 Substitutions Genomic: g.128C>T
CDS: c.71C>T
AnimoAcid: p.Ser24Phe		 Substitutions Direct sequencing Albert MH et al., 2010
508 Substitutions Genomic: g.136C>T
CDS: c.79C>T
AnimoAcid: p.Leu27Phe		 Substitutions Direct sequencing Albert MH et al., 2010
509 Deletion Genomic: g.145_147delCAC
CDS: c.88_90delCAC
AnimoAcid: p.His30del		 Deletion Direct sequencing Albert MH et al., 2010
510 Substitutions Genomic: g.148G>A
CDS: c.91G>A
AnimoAcid: p.Glu31Lys		 Substitutions Direct sequencing Albert MH et al., 2010
511 Substitutions Genomic: g.173T>C
CDS: c.116T>C
AnimoAcid: p.Leu39Pro		 Substitutions Direct sequencing Albert MH et al., 2010
512 Substitutions Genomic: g.488C>T
CDS: c.134C>T
AnimoAcid: p.Thr45Met		 Substitutions Direct sequencing Albert MH et al., 2010
513 Substitutions Genomic: g.494C>A
CDS: c.140C>A
AnimoAcid: p.Ala47Asp		 Substitutions Direct sequencing Albert MH et al., 2010
514 Substitutions Genomic: g.496A>G
CDS: c.142A>G
AnimoAcid: p.Thr48Ala		 Substitutions Direct sequencing Albert MH et al., 2010
515 Substitutions Genomic: g.497C>T
CDS: c.143C>T
AnimoAcid: p.Thr48Ile		 Substitutions Direct sequencing Albert MH et al., 2010
516 Substitutions Genomic: g.521C>T
CDS: c.167C>T
AnimoAcid: p.Ala56Val		 Substitutions Direct sequencing Albert MH et al., 2010
517 Substitutions Genomic: g.526C>A
CDS: c.172C>A
AnimoAcid: p.Pro58Thr		 Substitutions Direct sequencing Albert MH et al., 2010
518 Substitutions Genomic: g.526C>G
CDS: c.172C>G
AnimoAcid: p.Pro58Ala		 Substitutions Direct sequencing Albert MH et al., 2010
519 Substitutions Genomic: g.527C>G
CDS: c.173C>G
AnimoAcid: p.Pro58Arg		 Substitutions Direct sequencing Albert MH et al., 2010
520 Substitutions Genomic: g.553G>A
CDS: c.199G>A
AnimoAcid: p.Glu67Lys		 Substitutions Direct sequencing Albert MH et al., 2010
521 Substitutions Genomic: g.577G>A
CDS: c.223G>A
AnimoAcid: p.Val75Met		 Substitutions Direct sequencing Albert MH et al., 2010
522 Substitutions Genomic: g.577G>T
CDS: c.223G>T
AnimoAcid: p.Val75Leu		 Substitutions Direct sequencing Albert MH et al., 2010
523 Substitutions Genomic: g.581A>C
CDS: c.227A>C
AnimoAcid: p.Lys76Thr		 Substitutions Direct sequencing Albert MH et al., 2010
524 Substitutions Genomic: g.583G>C
CDS: c.229G>C
AnimoAcid: p.Asp77His		 Substitutions Direct sequencing Albert MH et al., 2010
525 Substitutions Genomic: g.584A>G
CDS: c.230A>G
AnimoAcid: p.Asp77Gly		 Substitutions Direct sequencing Albert MH et al., 2010
526 Substitutions Genomic: g.593A>G
CDS: c.239A>G
AnimoAcid: p.Gln80Arg		 Substitutions Direct sequencing Albert MH et al., 2010
527 Insertion Genomic: g.602_603insA
CDS: c.248_249insA
AnimoAcid: p.Tyr83X		 Insertion Direct sequencing Albert MH et al., 2010
528 Substitutions Genomic: g.610C>G
CDS: c.256C>G
AnimoAcid: p.Arg86Gly		 Substitutions Direct sequencing Albert MH et al., 2010
529 Substitutions Genomic: g.610C>T
CDS: c.256C>T
AnimoAcid: p.Arg86Cys		 Substitutions Direct sequencing Albert MH et al., 2010
530 Substitutions Genomic: g.611G>A
CDS: c.257G>A
AnimoAcid: p.Arg86His		 Substitutions Direct sequencing Albert MH et al., 2010
531 Substitutions Genomic: g.611G>T
CDS: c.257G>T
AnimoAcid: p.Arg86Leu		 Substitutions Direct sequencing Albert MH et al., 2010
532 Substitutions Genomic: g.617A>G
CDS: c.263A>G
AnimoAcid: p.Tyr88Cys		 Substitutions Direct sequencing Albert MH et al., 2010
533 Substitutions Genomic: g.620G>A
CDS: c.266G>A
AnimoAcid: p.Gly89Asp		 Substitutions Direct sequencing Albert MH et al., 2010
534 Substitutions Genomic: g.1797A>G
CDS: c.320A>G
AnimoAcid: p.Tyr107Cys		 Substitutions Direct sequencing Albert MH et al., 2010
535 Duplications Genomic: g.1807dupC
CDS: c.330dupC
AnimoAcid: p.Thr111HisfsX11		 Duplications Direct sequencing Albert MH et al., 2010
536 Substitutions Genomic: g.1832G>A
CDS: c.355G>A
AnimoAcid: p.Gly119Arg		 Substitutions Direct sequencing Albert MH et al., 2010
537 Duplications Genomic: g.1832_1837dupGGAGAT
CDS: c.355_360dupGGAGAT
AnimoAcid: p.Gly119_Asp120dup		 Duplications Direct sequencing Albert MH et al., 2010
538 Substitutions Genomic: g.1976G>T
CDS: c.399G>T
AnimoAcid: p.Glu133Asp		 Substitutions Direct sequencing Albert MH et al., 2010
539 Substitutions Genomic: g.2191G>T
CDS: c.505G>T
AnimoAcid: p.Glu169X		 Substitutions Direct sequencing Albert MH et al., 2010
540 Substitutions Genomic: g.2317C>A
CDS: c.538C>A
AnimoAcid: p.His180Asn		 Substitutions Direct sequencing Albert MH et al., 2010
541 Substitutions Genomic: g.3132C>G
CDS: c.707C>G
AnimoAcid: p.Ala236Gly		 Substitutions Direct sequencing Albert MH et al., 2010
542 Substitutions Genomic: g.3149A>T
CDS: c.724A>T
AnimoAcid: p.Ser242Cys		 Substitutions Direct sequencing Albert MH et al., 2010
543 Insertion Genomic: g.4580_4581insG
CDS: c.854_855insG
AnimoAcid: p.Thr286AspfsX3		 Insertion Direct sequencing Albert MH et al., 2010
544 Substitutions Genomic: g.4645A>G
CDS: c.919A>G
AnimoAcid: p.Met307Val		 Substitutions Direct sequencing Albert MH et al., 2010
545 Substitutions Genomic: g.4893C>T
CDS: c.961C>T
AnimoAcid: p.Arg321X		 Substitutions Direct sequencing Albert MH et al., 2010
546 Insertion Genomic: g.4923_4924insA
CDS: c.991_992insA
AnimoAcid: p.Ile331AsnfsX5		 Insertion Direct sequencing Albert MH et al., 2010
547 Deletion Genomic: g.5005_5006delGA
CDS: c.1073_1074delGA
AnimoAcid: p.Gly358AlafsX135		 Deletion Direct sequencing Albert MH et al., 2010
548 Deletion Genomic: g.5011delC
CDS: c.1079delC
AnimoAcid: p.Pro360HisfsX84		 Deletion Direct sequencing Albert MH et al., 2010
549 Substitutions Genomic: g.5022C>T
CDS: c.1090C>T
AnimoAcid: p.Arg364X		 Substitutions Direct sequencing Albert MH et al., 2010
550 Substitutions Genomic: g.5615G>A
CDS: c.1430G>A
AnimoAcid: p.Arg477Lys		 Substitutions Direct sequencing Albert MH et al., 2010
551 Substitutions Genomic: g.5627T>A
CDS: c.1442T>A
AnimoAcid: p.Ile481Asn		 Substitutions Direct sequencing Albert MH et al., 2010
552 Substitutions Genomic: g.5638G>A
CDS: c.1453G>A
AnimoAcid: p.Asp485Asn		 Substitutions Direct sequencing Albert MH et al., 2010
553 Substitutions Genomic: g.7313A>G
CDS: c.1454A>G
AnimoAcid: p.Asp485Gly		 Substitutions Direct sequencing Albert MH et al., 2010
554 Substitutions Genomic: g.7367G>C
CDS: c.1508G>C
AnimoAcid: p.X503SerextX*76		 Substitutions Direct sequencing Albert MH et al., 2010
555 Substitutions Genomic: g.1838G>A
CDS: c.360+1G>A
AnimoAcid: p.Ala92_Asp120del		 Substitutions Direct sequencing Albert MH et al., 2010
556 Substitutions Genomic: g.1937G>A
CDS: c.361-1G>A
AnimoAcid: 		Substitutions Direct sequencing Albert MH et al., 2010
557 Complex Genomic: g.[2041_2048del; 2147_2148insG]
CDS: c.[463+1_463+8del;464-3_464-2insG]
AnimoAcid: 		Complex Direct sequencing Albert MH et al., 2010
558 Substitutions Genomic: g.2343G>A
CDS: c.559+5G>A
AnimoAcid: 		Substitutions Direct sequencing Albert MH et al., 2010
559 Substitutions Genomic: g.3164G>A
CDS: c.734+5G>A
AnimoAcid: 		Substitutions Direct sequencing Albert MH et al., 2010
560 Substitutions Genomic: g.4233A>C
CDS: c.735-25A>C
AnimoAcid: 		Substitutions Direct sequencing Albert MH et al., 2010
561 Substitutions Genomic: g.4301G>A
CDS: c.777+1G>A
AnimoAcid: 		Substitutions Direct sequencing Albert MH et al., 2010
562 Insertion Genomic: g.4303_4304insT
CDS: c.777+3_777+4insT
AnimoAcid: 		Insertion Direct sequencing Albert MH et al., 2010
563 Substitutions Genomic: g.4498G>A
CDS: c.778-6G>A
AnimoAcid: 		Substitutions Direct sequencing Albert MH et al., 2010
564 Insertion Genomic: g.7343_7344ins118
CDS: c.1484_1485ins118
AnimoAcid: 		Insertion Direct sequencing Albert MH et al., 2010
565 Insertion Genomic: c.931_932ins250
CDS:
AnimoAcid: 		Insertion Direct sequencing Albert MH et al., 2010
566 Substitutions Genomic: g.94C>T
CDS: c.37C>T
AnimoAcid: p.Arg13X		 Substitutions Direct sequencing, PCR based assay Lee WI et al., 2010
567 Deletion Genomic: g.102_105delACCA
CDS: c.45_48delACCA
AnimoAcid: p.Pro16ArgfsX28		 Deletion Direct sequencing, PCR based assay Lee WI et al., 2010
568 Substitutions Genomic: g.148G>A
CDS: c.91G>A
AnimoAcid: p.Glu31Lys		 Substitutions Direct sequencing, PCR based assay Lee WI et al., 2010
569 Substitutions Genomic: g.157C>T
CDS: c.100C>T
AnimoAcid: p.Arg34X		 Substitutions Direct sequencing, PCR based assay Lee WI et al., 2010
570 Substitutions Genomic: g.178C>T
CDS: c.121C>T
AnimoAcid: p.Arg41X		 Substitutions Direct sequencing, PCR based assay Lee WI et al., 2010
571 Substitutions Genomic: g.486G>C
CDS: c.133-1G>C
AnimoAcid: p.Thr45_Gln91del		 Substitutions Direct sequencing, PCR based assay Lee WI et al., 2010
572 Deletion Genomic: g.58-?_627+?del
CDS: c.1-?_273+?del
AnimoAcid: p.0		 Deletion Direct sequencing, PCR based assay Lee WI et al., 2010
573 Substitutions Genomic: g.599C>T
CDS: c.245C>T
AnimoAcid: p.Ser82Pro		 Substitutions Direct sequencing, PCR based assay Lee WI et al., 2010
574 Substitutions Genomic: g.4305G>A
CDS: c.777+5G>A
AnimoAcid: p.Lys245fsX2		 Substitutions Direct sequencing, PCR based assay Lee WI et al., 2010
575 Insertion Genomic: g.4955_4956insC
CDS: c.1023_1024insC
AnimoAcid: p.Leu342ThrfsX152		 Insertion Direct sequencing, PCR based assay Lee WI et al., 2010
576 Substitutions Genomic: g.[5563C>T; 5606T>C]
CDS: c.[1378C>T; 1421T>C]
AnimoAcid: p.[Pro460Ser;Met474Thr]		 Substitutions Direct sequencing, PCR based assay Lee WI et al., 2010
577 Substitutions Genomic: g.4535T>C
CDS: c.809T>C
AnimoAcid: p.Leu270Pro		 Substitutions Direct sequencing Xia J et al., 2009
578 Substitutions Genomic: g.5563C>T
CDS: c.1378C>T
AnimoAcid: p.Pro460Ser		 Substitutions Direct sequencing Xia J et al., 2009
579 Substitutions Genomic: g.1990G>C
CDS: c.413G>C
AnimoAcid: p.Arg138Pro		 Substitutions Direct sequencing, PCR based assay Dogu F et al., 2006
580 Deletion Genomic: g.4292delG
CDS: c.769delG
AnimoAcid: p.Gly257AspfsX4		 Deletion Direct sequencing, PCR based assay Yu H et al., 2010
581 Substitutions Genomic: g.2343G>A
CDS: c.559+5G>A
AnimoAcid: 		Substitutions Direct sequencing Yoon SH et al., 2012
582 Substitutions Genomic: g.4658G>A
CDS: c.931+1G>A
AnimoAcid: 		Substitutions NA Suri D et al., 2012
583 Deletion Genomic: g.4963delC
CDS: c.1031delC
AnimoAcid: p.Pro344LeufsX101		 Deletion NA Suri D et al., 2012
584 Substitutions Genomic: g.148G>A
CDS: c.91G>A
AnimoAcid: p.Glu31Lys		 Substitutions NA Suri D et al., 2012
585 Substitutions Genomic: g.94C>T
CDS: c.37C>T
AnimoAcid: p.Arg13X		 Substitutions NA Suri D et al., 2012
586 Substitutions Genomic: g.157C>T
CDS: c.100C>T
AnimoAcid: p.Arg34X		 Substitutions NA Suri D et al., 2012
587 Substitutions Genomic: g.611G>A
CDS: c.257G>A
AnimoAcid: p.Arg86His		 Substitutions NA Suri D et al., 2012
588 Substitutions Genomic: g.4893C>T
CDS: c.961C>T
AnimoAcid: p.Arg321X		 Substitutions CSGE David S et al., 2012
589 Substitutions Genomic: g.3056C>T
CDS: c.631C>T
AnimoAcid: p.Arg211X		 Substitutions CSGE David S et al., 2012
590 Substitutions Genomic: g.185G>A
CDS: c.128G>A
AnimoAcid: p.Cys43Tyr		 Substitutions CSGE David S et al., 2012
591 Deletion Genomic: g.165delT
CDS: c.108delT
AnimoAcid: p.Phe36LeufsX9		 Deletion CSGE David S et al., 2012
592 Substitutions Genomic: g.4301G>A
CDS: c.777+1G>A
AnimoAcid: 		Substitutions CSGE David S et al., 2012
593 Deletion Genomic: g.4302_4305delTGAG
CDS: c.777+2_777+5delTGAG
AnimoAcid: 		Deletion CSGE David S et al., 2012
594 Substitutions Genomic: g.112C>T
CDS: c.55C>T
AnimoAcid: p.Gln19X		 Substitutions Direct sequencing Amarinthnukrowh P et al., 2012
595 Insertion Genomic: g.5203_5204insG
CDS: c.1271_1272insG
AnimoAcid: p.Leu425ProfsX70		 Insertion Direct sequencing Amarinthnukrowh P et al., 2012
596 Substitutions Genomic: g.610C>T
CDS: c.256C>T
AnimoAcid: p.Arg86Cys		 Substitutions Direct sequencing Amarinthnukrowh P et al., 2012
597 Substitutions Genomic: g.611G>A
CDS: c.257G>A
AnimoAcid: p.Arg86His		 Substitutions Direct sequencing Amarinthnukrowh P et al., 2012
598 Deletion Genomic: g.4303_4306delGAGT
CDS: c.777+3_777+6delGAGT
AnimoAcid: 		Deletion Direct sequencing Amarinthnukrowh P et al., 2012
599 Deletion-Insertion Genomic: g.173delTinsGCA
CDS: c.116delTinsA
AnimoAcid: p.Leu39ArgfsX7		 Deletion-Insertion NA Jesenak M et al., 2012
600 Substitutions Genomic: g.79G>T
CDS: c.22G>T
AnimoAcid: p.Gly8X		 Substitutions Direct sequencing Safaei S et al., 2012
601 Substitutions Genomic: g.94C>T
CDS: c.37C>T
AnimoAcid: p.Arg13X		 Substitutions Direct sequencing Safaei S et al., 2012
602 Substitutions Genomic: g.178C>T
CDS: c.121C>T
AnimoAcid: p.Arg41X		 Substitutions Direct sequencing Safaei S et al., 2012
603 Substitutions Genomic: g.1958C>G
CDS: c.381C>G
AnimoAcid: p.Asn127Lys		 Substitutions Direct sequencing Safaei S et al., 2012
604 Substitutions Genomic: g.562G>A.
CDS: c.208G>A
AnimoAcid: p.Gly70Arg		 Substitutions Direct sequencing Safaei S et al., 2012
605 Substitutions Genomic: g.4575C>G
CDS: c.849C>G
AnimoAcid: p.Asp283Glu		 Substitutions Direct sequencing Safaei S et al., 2012
606 Substitutions Genomic: g.521C>T
CDS: c.167C>T
AnimoAcid: p.Ala56Val		 Substitutions Direct sequencing Safaei S et al., 2012
607 Deletion Genomic: g.5166delC
CDS: c.1234delC
AnimoAcid: p.Pro412LeufsX33		 Deletion Direct sequencing Safaei S et al., 2012
608 Substitutions Genomic: g.5575G>T
CDS: c.1390G>T
AnimoAcid: p.Glu464X		 Substitutions Direct sequencing Safaei S et al., 2012
609 Deletion Genomic: g.5530delG
CDS: c.1345delG
AnimoAcid: p.Ala450ProfsX21		 Deletion Direct sequencing Kawasaki Y et al., 2013
610 Substitutions Genomic: g.1974G>A
CDS: c.397G>A
AnimoAcid: p.Glu133Lys		 Substitutions Sanger Sequencing Boonyawat B et al., 2013
611 Substitutions Genomic: g.73A>G
CDS: c.16A>G
AnimoAcid: p.Met6Val		 Substitutions NA Zhang S et al., 2013
612 Substitutions Genomic: g.520G>A
CDS: c.166G>A
AnimoAcid: p.Ala56Thr		 Substitutions Direct sequencing Wada T et al., 2014