CYBB
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Deletion Genomic: g.18965_18966delAG
CDS: c.701_702delAG
AnimoAcid: p.Ser235PhefsX5
Deletion Direct sequencing, SSCP Rae J et al., 1998
2 Duplications Genomic: g.13754dupA
CDS: c.443dupA
AnimoAcid: p.Asn149LysfsX2
Duplications Direct sequencing, SSCP Rae J et al., 1998
3 Deletion Genomic: g.26470delG
CDS: c.1414delG
AnimoAcid: p.Gly472AlafsX30
Deletion Direct sequencing, SSCP Rae J et al., 1998
4 Deletion Genomic: g.26405delC
CDS: c.1349delC
AnimoAcid: p.Phe451LeufsX51
Deletion Direct sequencing, SSCP Rae J et al., 1998
5 Insertion Genomic: g.23886_23887insCCTTTCA
CDS: c.923_924insCCTTTCA
AnimoAcid: p.Glu309LeufsX41
Insertion Direct sequencing, SSCP Rae J et al., 1998
6 Insertion Genomic: g.2147insT
CDS: c.121insT
AnimoAcid: p.Phe40fs
Insertion Direct sequencing, PCR based assay Ishibashi F et al., 2000
7 Substitutions Genomic: g.3493G>T
CDS: c.161G>T
AnimoAcid: p.Arg54Met
Substitutions Direct sequencing, PCR based assay Ishibashi F et al., 2000
8 Substitutions Genomic: g.3496C>A
CDS: c.164C>A
AnimoAcid: p.Ala55Asp
Substitutions Direct sequencing, PCR based assay Ishibashi F et al., 2000
9 Substitutions Genomic: g.3502C>A
CDS: c.170C>A
AnimoAcid: p.Ala57Glu
Substitutions Direct sequencing, PCR based assay Ishibashi F et al., 2000
10 Substitutions Genomic: g.11977C>T
CDS: c.271C>T
AnimoAcid: p.Arg91X
Substitutions Direct sequencing, PCR based assay Ishibashi F et al., 2000
11 Substitutions Genomic: g.12007C>T
CDS: c.301C>T
AnimoAcid: p.His101Tyr
Substitutions Direct sequencing, PCR based assay Ishibashi F et al., 2000
12 Substitutions Genomic: g.13699C>T
CDS: c.388C>T
AnimoAcid: p.Arg130X
Substitutions Direct sequencing, PCR based assay Ishibashi F et al., 2000
13 Substitutions Genomic: g.13753C>T
CDS: c.442C>T
AnimoAcid: p.Gln148X
Substitutions Direct sequencing, PCR based assay Ishibashi F et al., 2000
14 Substitutions Genomic: g.13780C>T
CDS: c.469C>T
AnimoAcid: p.Arg157X
Substitutions Direct sequencing, PCR based assay Ishibashi F et al., 2000
15 Deletion Genomic: g.16057delT
CDS: c.606delT
AnimoAcid: p.Tyr201fs
Deletion Direct sequencing, PCR based assay Ishibashi F et al., 2000
16 Deletion Genomic: g.16060delA
CDS: c.609delT
AnimoAcid: p.Glu203fs
Deletion Direct sequencing, PCR based assay Ishibashi F et al., 2000
17 Substitutions Genomic: g.16077A>G
CDS: c.626A>G
AnimoAcid: p.His209Arg
Substitutions Direct sequencing, PCR based assay Ishibashi F et al., 2000
18 Substitutions Genomic: g.16122C>G
CDS: c.671C>G
AnimoAcid: p.Ala224Gly
Substitutions Direct sequencing, PCR based assay Ishibashi F et al., 2000
19 Substitutions Genomic: g.18940C>T
CDS: c.676C>T
AnimoAcid: p.Arg226X
Substitutions Direct sequencing, PCR based assay Ishibashi F et al., 2000
20 Duplications Genomic: g.18970_18971dupTT
CDS: c.706_707dupTT
AnimoAcid: p.Leu236PhefsX7
Duplications Direct sequencing, PCR based assay Ishibashi F et al., 2000
21 Insertion Genomic: g.19006insA
CDS: c.742insA
AnimoAcid: p.Lys247fs
Insertion Direct sequencing, PCR based assay Ishibashi F et al., 2000
22 Deletion Genomic: g.21305delA
CDS: c.870delA
AnimoAcid: p.Arg290fs
Deletion Direct sequencing, PCR based assay Ishibashi F et al., 2000
23 Substitutions Genomic: g.23888G>A
CDS: c.925G>A
AnimoAcid: p.Glu309Lys
Substitutions Direct sequencing, PCR based assay Ishibashi F et al., 2000
24 Substitutions Genomic: g.23930C>T
CDS: c.967C>T
AnimoAcid: p.Gln323X
Substitutions Direct sequencing, PCR based assay Ishibashi F et al., 2000
25 Substitutions Genomic: g.23975C>T
CDS: c.1012C>T
AnimoAcid: p.His338Tyr
Substitutions Direct sequencing, PCR based assay Ishibashi F et al., 2000
26 Substitutions Genomic: g.23979C>A
CDS: c.1016C>A
AnimoAcid: p.Pro339His
Substitutions Direct sequencing, PCR based assay Ishibashi F et al., 2000
27 Substitutions Genomic: g.23994C>T
CDS: c.1031C>T
AnimoAcid: p.Ser344Phe
Substitutions Direct sequencing, PCR based assay Ishibashi F et al., 2000
28 Substitutions Genomic: g.25004G>A
CDS: c.1166G>A
AnimoAcid: p.Gly389Glu
Substitutions Direct sequencing, PCR based assay Ishibashi F et al., 2000
29 Deletion Genomic: g.25018_25020delGCC
CDS: c.1180_1182delGCC
AnimoAcid: p.Thr393fs
Deletion Direct sequencing, PCR based assay Ishibashi F et al., 2000
30 Insertion Genomic: g.25018_25019ins15
CDS: c.1180_1181ins15
AnimoAcid: p.Ala394fs
Insertion Direct sequencing, PCR based assay Ishibashi F et al., 2000
31 Substitutions Genomic: g.25097T>C
CDS: c.1259T>C
AnimoAcid: p.Leu420Pro
Substitutions Direct sequencing Ishibashi F et al., 2000
32 Substitutions Genomic: g.25147A>T
CDS: c.1309A>T
AnimoAcid: p.Lys437X
Substitutions Direct sequencing Ishibashi F et al., 2000
33 Substitutions Genomic: g.26410G>T
CDS: c.1354G>T
AnimoAcid: p.Glu452X
Substitutions Direct sequencing Ishibashi F et al., 2000
34 Substitutions Genomic: g.26452C>T
CDS: c.1396C>T
AnimoAcid: p.Gln466X
Substitutions Direct sequencing Ishibashi F et al., 2000
35 Substitutions Genomic: g.26484C>A
CDS: c.1428C>A
AnimoAcid: p.Tyr476X
Substitutions Direct sequencing Ishibashi F et al., 2000
36 Deletion Genomic: g.26503_26515del13
CDS: c.1447_1459del13
AnimoAcid: p.Gly482fs
Deletion Direct sequencing Ishibashi F et al., 2000
37 Deletion Genomic: g.29586delA
CDS: c.1497delA
AnimoAcid: p.Lys499fs
Deletion Direct sequencing Ishibashi F et al., 2000
38 Deletion Genomic: g.29610_29615delAAAGA
CDS: c.1521_1525delAAAGA
AnimoAcid: p.Lys506fs
Deletion Direct sequencing Ishibashi F et al., 2000
39 Insertion Genomic: g.29610insCATCTGGG
CDS: c.1521insCATCTGGG
AnimoAcid: p.Lys506fs
Insertion Direct sequencing Ishibashi F et al., 2000
40 Substitutions Genomic: g.29635T>C
CDS: c.1546T>C
AnimoAcid: p.Trp516Arg
Substitutions Direct sequencing Ishibashi F et al., 2000
41 Substitutions Genomic: g.13648G>A
CDS: c.338-1G>A
AnimoAcid:
Substitutions Direct sequencing Ishibashi F et al., 2000
42 Substitutions Genomic: g.21238A>G
CDS: c.805-2A>G
AnimoAcid:
Substitutions Direct sequencing Ishibashi F et al., 2000
43 Deletion Genomic: g.24001delT
CDS: c.1038delT
AnimoAcid: p.Glu347ArgfsX39
Deletion Direct sequencing, SSCP Pitimana et al.,1998
44 Deletion-Insertion Genomic: g.25151_25152delAGinsT
CDS: c.1313_1314delAGinsT
AnimoAcid: p.Lys438IlefsX64
Deletion-Insertion Direct sequencing, SSCP Rae J et al., 1998
45 Duplications Genomic: g.25072dupG
CDS: c.1234dupG
AnimoAcid: p.Val413GlyfsX18
Duplications Direct sequencing, SSCP Rae J et al., 1998
46 Deletion Genomic: g.16046delA
CDS: c.595delA
AnimoAcid: p.Arg199GlyfsX15
Deletion Direct sequencing, SSCP Rae J et al., 1998
47 Insertion Genomic: g.23979_23980insC
CDS: c.1016_1017insC
AnimoAcid: p.Phe340fs
Insertion Direct sequencing Wolach B et al., 2008
48 Substitutions Genomic: g.18940C>T
CDS: c.676C>T
AnimoAcid: p.Arg226X
Substitutions Direct sequencing Wolach B et al., 2008
49 Deletion-Insertion Genomic: g.2116_2118delinsGGT
CDS: c.90_92delinsGGT
AnimoAcid: p.Tyr30X
Deletion-Insertion Direct sequencing Wolach B et al., 2008
50 Deletion Genomic: g.13699delC
CDS: c.388delC
AnimoAcid: p.Arg130fs
Deletion Direct sequencing Wolach B et al., 2008
51 Substitutions Genomic: g.23979C>A
CDS: c.1016C>A
AnimoAcid: p.Pro339His
Substitutions Direct sequencing Wolach B et al., 2008
52 Substitutions Genomic: g.24044T>C
CDS: c.1081T>C
AnimoAcid: p.Trp361Arg
Substitutions Direct sequencing Wolach B et al., 2008
53 Substitutions Genomic: g.11977C>T
CDS: c.271C>T
AnimoAcid: p.Arg91X
Substitutions Direct sequencing Wolach B et al., 2008
54 Substitutions Genomic: g.13699C>T
CDS: c.388C>T
AnimoAcid: p.Arg130X
Substitutions Direct sequencing Wolach B et al., 2008
55 Deletion Genomic: g.25109delG
CDS: c.1271delG
AnimoAcid: p.Trp424CysfsX11
Deletion Direct sequencing, SSCP Rae J et al., 1998
56 Duplications Genomic: g.18970_18971dupTT
CDS: c.706_707dupTT
AnimoAcid: p.Leu236PhefsX7
Duplications Direct sequencing Ariga T et al., 1998
57 Substitutions Genomic: g.23994C>T
CDS: c.1031C>T
AnimoAcid: p.Ser344Phe
Substitutions Direct sequencing Ariga T et al., 1998
58 Substitutions Genomic: g.3493G>T
CDS: c.161G>T
AnimoAcid: p.Arg54Met
Substitutions Direct sequencing Ariga T et al., 1998
59 Substitutions Genomic: g.3490C>A
CDS: c.158C>A
AnimoAcid: p.Ala55Asp
Substitutions Direct sequencing Ariga T et al., 1998
60 Substitutions Genomic: g.13648G>A
CDS: c.338-1G>A
AnimoAcid:
Substitutions Direct sequencing Ariga T et al., 1998
61 Substitutions Genomic: g.72G>A
CDS: c.11G>A
AnimoAcid: p.Trp4X
Substitutions Direct sequencing Kannengiesser C et al., 2008
62 Substitutions Genomic: g.2079G>A
CDS: c.53G>A
AnimoAcid: p.Trp18X
Substitutions Direct sequencing Kannengiesser C et al., 2008
63 Substitutions Genomic: g.3496C>A
CDS: c.164C>A
AnimoAcid: p.Ala55Asp
Substitutions Direct sequencing Kannengiesser C et al., 2008
64 Substitutions Genomic: g.13699C>T
CDS: c.388C>T
AnimoAcid: p.Arg130X
Substitutions Direct sequencing Kannengiesser C et al., 2008
65 Substitutions Genomic: g.13733T>C
CDS: c.422T>C
AnimoAcid: p.Leu141Pro
Substitutions Direct sequencing Kannengiesser C et al., 2008
66 Substitutions Genomic: g.13780C>T
CDS: c.469C>T
AnimoAcid: p.Arg157X
Substitutions Direct sequencing Kannengiesser C et al., 2008
67 Substitutions Genomic: g.16028T>C
CDS: c.577T>C
AnimoAcid: p.Ser193Pro
Substitutions Direct sequencing Kannengiesser C et al., 2008
68 Substitutions Genomic: g.16078T>A
CDS: c.627T>A
AnimoAcid: p.His209Gln
Substitutions Direct sequencing Kannengiesser C et al., 2008
69 Substitutions Genomic: g.16116A>G
CDS: c.665A>G
AnimoAcid: p.His222Arg
Substitutions Direct sequencing Kannengiesser C et al., 2008
70 Substitutions Genomic: g.18940C>T
CDS: c.676C>T
AnimoAcid: p.Arg226X
Substitutions Direct sequencing Kannengiesser C et al., 2008
71 Substitutions Genomic: g.18996T>A
CDS: c.732T>A
AnimoAcid: p.Cys244X
Substitutions Direct sequencing Kannengiesser C et al., 2008
72 Substitutions Genomic: g.19000C>T
CDS: c.736C>T
AnimoAcid: p.Gln246X
Substitutions Direct sequencing Kannengiesser C et al., 2008
73 Substitutions Genomic: g.21303C>T
CDS: c.868C>T
AnimoAcid: p.Arg290X
Substitutions Direct sequencing Kannengiesser C et al., 2008
74 Substitutions Genomic: g.23867A>C
CDS: c.904A>C
AnimoAcid: p.Thr302Pro
Substitutions Direct sequencing Kannengiesser C et al., 2008
75 Substitutions Genomic: g.24038G>A
CDS: c.1075G>A
AnimoAcid: p.Gly359Arg
Substitutions Direct sequencing Kannengiesser C et al., 2008
76 Substitutions Genomic: g.24046G>A
CDS: c.1083G>A
AnimoAcid: p.Trp361X
Substitutions Direct sequencing Kannengiesser C et al., 2008
77 Substitutions Genomic: g.25102C>A
CDS: c.1264C>A
AnimoAcid: p.Ser422X
Substitutions Direct sequencing Kannengiesser C et al., 2008
78 Substitutions Genomic: g.26413T>C
CDS: c.1357T>C
AnimoAcid: p.Trp453Arg
Substitutions Direct sequencing Kannengiesser C et al., 2008
79 Substitutions Genomic: g.29587G>T
CDS: c.1498G>T
AnimoAcid: p.Asp500Tyr
Substitutions Direct sequencing Kannengiesser C et al., 2008
80 Substitutions Genomic: g.29587G>C
CDS: c.1498G>C
AnimoAcid: p.Asp500His
Substitutions Direct sequencing Kannengiesser C et al., 2008
81 Substitutions Genomic: g.29589T>G
CDS: c.1500T>G
AnimoAcid: p.Asp500Glu
Substitutions Direct sequencing Kannengiesser C et al., 2008
82 Substitutions Genomic: g.29622T>A
CDS: c.1533T>A
AnimoAcid: p.Tyr511X
Substitutions Direct sequencing Kannengiesser C et al., 2008
83 Substitutions Genomic: g.29635T>A
CDS: c.1546T>A
AnimoAcid: p.Trp516Arg
Substitutions Direct sequencing Kannengiesser C et al., 2008
84 Substitutions Genomic: g.111G>A
CDS: c.45+5G>A
AnimoAcid:
Substitutions Direct sequencing Kannengiesser C et al., 2008
85 Substitutions Genomic: g.2061T>G
CDS: c.46-11T>G
AnimoAcid:
Substitutions Direct sequencing Kannengiesser C et al., 2008
86 Substitutions Genomic: g.13795G>A
CDS: c.483+1G>A
AnimoAcid:
Substitutions Direct sequencing Kannengiesser C et al., 2008
87 Duplications Genomic: g.16079_16082dupCATC
CDS: c.628_631dupCATC
AnimoAcid: p.Leu211ProfsX15
Duplications Direct sequencing Kannengiesser C et al., 2008
88 Duplications Genomic: g.19006dupA
CDS: c.742dupA
AnimoAcid: p.Ile248AsnfsX35
Duplications Direct sequencing Kannengiesser C et al., 2008
89 Deletion Genomic: g.19061delC
CDS: c.797delC
AnimoAcid: p.Pro266LeufsX3
Deletion Direct sequencing Kannengiesser C et al., 2008
90 Substitutions Genomic: g.21333G>T
CDS: c.897+1G>T
AnimoAcid:
Substitutions Direct sequencing Kannengiesser C et al., 2008
91 Deletion Genomic: g.24026delA
CDS: c.1063delA
AnimoAcid: p.Ile355SerfsX30
Deletion Direct sequencing Kannengiesser C et al., 2008
92 Deletion Genomic: g.26396delA
CDS: c.1340delA
AnimoAcid: p.Asp447AlafsX54
Deletion Direct sequencing Kannengiesser C et al., 2008
93 Deletion Genomic: g.29598delA
CDS: c.1509delA
AnimoAcid: p.Gly504AlafsX1
Deletion Direct sequencing Kannengiesser C et al., 2008
94 Deletion Genomic: g.29612delA
CDS: c.1523delA
AnimoAcid: p.Lys508ArgfsX24
Deletion Direct sequencing Kannengiesser C et al., 2008
95 Duplications Genomic: g.29668dupC
CDS: c.1579dupC
AnimoAcid: p.His527ProfsX2
Duplications Direct sequencing Kannengiesser C et al., 2008
96 Deletion Genomic: g.30798_30799delGT
CDS: c.1610_1611delGT
AnimoAcid: p.Cys537TrpfsX2
Deletion Direct sequencing Kannengiesser C et al., 2008
97 Substitutions Genomic: g.25060G>C
CDS: c.1222G>C
AnimoAcid: p.Gly408Arg
Substitutions Direct sequencing Bakri FG et al., 2009
98 Substitutions Genomic: g.16069G>A
CDS: c.618G>A
AnimoAcid: p.Trp206X
Substitutions Direct sequencing Gono T et al., 2008
99 Deletion Genomic: g.19016delG
CDS: c.752delG
AnimoAcid: p.Gly252GlufsX3
Deletion Direct sequencing, SSCP Rae J et al., 1998
100 Substitutions Genomic: g.19070T>A
CDS: c.804+2T>A
AnimoAcid: p.Arg226fs
Substitutions Direct sequencing de Boer M et al., 1992
101 Substitutions Genomic: g.13797A>T
CDS: c.483+3A>T
AnimoAcid: p.Ala113fs
Substitutions Direct sequencing de Boer M et al., 1992
102 Substitutions Genomic: g.3589G>A
CDS: c.252+5G>A
AnimoAcid: p.Ser48fs
Substitutions Direct sequencing de Boer M et al., 1992
103 Substitutions Genomic: g.2071G>A
CDS: c.46-1G>A
AnimoAcid: p.Leu16fs
Substitutions Direct sequencing de Boer M et al., 1992
104 Substitutions Genomic: g.25110G>A
CDS: c.1272G>A
AnimoAcid: p.Trp424X
Substitutions Fluorescent sequencing, SSCP Teimourian S et al., 2008
105 Substitutions Genomic: g.18940C>T
CDS: c.676C>T
AnimoAcid: p.Arg226X
Substitutions Fluorescent sequencing, SSCP Teimourian S et al., 2008
106 Deletion Genomic: g.18967_18968delAG
CDS: c.703_704delAG
AnimoAcid: p.Ser235fs
Deletion Fluorescent sequencing, SSCP Teimourian S et al., 2008
107 Substitutions Genomic: g.3549C>T
CDS: c.217C>T
AnimoAcid: p.Arg73X
Substitutions Fluorescent sequencing, SSCP Teimourian S et al., 2008
108 Substitutions Genomic: g.21303C>T
CDS: c.868C>T
AnimoAcid: p.Arg290X
Substitutions Fluorescent sequencing, SSCP Teimourian S et al., 2008
109 Substitutions Genomic: g.11977C>T
CDS: c.271C>T
AnimoAcid: p.Arg91X
Substitutions Fluorescent sequencing, SSCP Teimourian S et al., 2008
110 Substitutions Genomic: g.23974G>A
CDS: c.1011G>A
AnimoAcid: p.Trp337X
Substitutions Fluorescent sequencing, SSCP Teimourian S et al., 2008
111 Substitutions Genomic: g.21245G>A
CDS: c.810G>A
AnimoAcid: p.Trp270X
Substitutions Fluorescent sequencing, SSCP Teimourian S et al., 2008
112 Substitutions Genomic: g.13699C>T
CDS: c.388C>T
AnimoAcid: p.Arg130X
Substitutions Dideoxy fingerprinting, PCR based assay Porter CD et al., 1996
113 Substitutions Genomic: g.21303C>T
CDS: c.868C>T
AnimoAcid: p.Arg290X
Substitutions Dideoxy fingerprinting, PCR based assay Porter CD et al., 1996
114 Substitutions Genomic: g.13795G>T
CDS: c.483+1G>T
AnimoAcid: p.Ala113fs
Substitutions Dideoxy fingerprinting, PCR based assay Porter CD et al., 1996
115 Substitutions Genomic: g.3584G>A
CDS: c.252G>A
AnimoAcid: p.Ser48_Ala84del
Substitutions Dideoxy fingerprinting, PCR based assay Porter CD et al., 1996
116 Substitutions Genomic: g.23985C>A
CDS: c.1022C>A
AnimoAcid: p.Thr341Lys
Substitutions Direct sequencing Leusen JH et al., 2000
117 Substitutions Genomic: g.24068T>C
CDS: c.1105T>C
AnimoAcid: p.Cys369Arg
Substitutions Direct sequencing Leusen JH et al., 2000
118 Substitutions Genomic: g.25004G>C
CDS: c.1166G>C
AnimoAcid: p.Gly389Ala
Substitutions Direct sequencing Bolscher BG et al., 1991
119 Substitutions Genomic: g.25061G>A
CDS: c.1223G>A
AnimoAcid: p.Gly408Glu
Substitutions Direct sequencing Leusen JH et al., 2000
120 Substitutions Genomic: g.30890G>A
CDS: c.1702G>A
AnimoAcid: p.Glu568Lys
Substitutions Direct sequencing Leusen JH et al., 2000
121 Substitutions Genomic: g.16076C>T
CDS: c.625C>T
AnimoAcid: p.His209Tyr
Substitutions Direct sequencing Bolscher BG et al., 1991
122 Substitutions Genomic: g.13780C>T
CDS: c.469C>T
AnimoAcid: p.Arg157X
Substitutions Direct sequencing Bolscher BG et al., 1991
123 Substitutions Genomic: g.18995G>C
CDS: c.731G>C
AnimoAcid: p.Cys244Ser
Substitutions Direct sequencing Bolscher BG et al., 1991
124 Substitutions Genomic: g.13777G>A
CDS: c.466G>A
AnimoAcid: p.Ala156Thr
Substitutions Direct sequencing Bolscher BG et al., 1991
125 Substitutions Genomic: g.12008A>G
CDS: c.302A>G
AnimoAcid: p.His101Arg
Substitutions Direct sequencing Bolscher BG et al., 1991
126 Deletion Genomic: g.19020delA
CDS: c.756delA
AnimoAcid: p.Ile254X
Deletion Direct sequencing, SSCP Rae J et al., 1998
127 Substitutions Genomic: g.23988T>A
CDS: c.1025T>A
AnimoAcid: p.Leu342Glu
Substitutions Direct sequencing, SSCP Hui YF et al., 1996
128 Deletion Genomic: g.16097_16099delTTC
CDS: c.646_648delTTC
AnimoAcid: p.Phe216del
Deletion Direct sequencing, SSCP Hui YF et al., 1996
129 Substitutions Genomic: g.16064T>A
CDS: c.613T>A
AnimoAcid: p.Phe205Ile
Substitutions Direct sequencing, SSCP Hui YF et al., 1996
130 Duplications Genomic: g.19006dupA
CDS: c.742dupA
AnimoAcid: p.Ile248fs
Duplications Direct sequencing, SSCP Hui YF et al., 1996
131 Substitutions Genomic: g.29644G>T
CDS: c.1555G>T
AnimoAcid: p.Glu519X
Substitutions Direct sequencing, SSCP Hui YF et al., 1996
132 Substitutions Genomic: g.3584G>A
CDS: c.252G>A
AnimoAcid: p.Ser48fs
Substitutions Direct sequencing, SSCP Hui YF et al., 1996
133 Substitutions Genomic: g.2110G>A
CDS: c.84G>A
AnimoAcid: p.Trp28X
Substitutions Direct sequencing, SSCP Gerard B et al., 2001
134 Substitutions Genomic: g.3549C>T
CDS: c.217C>T
AnimoAcid: p.Arg73X
Substitutions Direct sequencing, SSCP Gerard B et al., 2001
135 Substitutions Genomic: g.13699C>T
CDS: c.388C>T
AnimoAcid: p.Arg130X
Substitutions Direct sequencing, SSCP Gerard B et al., 2001
136 Substitutions Genomic: g.18940C>T
CDS: c.676C>T
AnimoAcid: p.Arg226X
Substitutions Direct sequencing, SSCP Gerard B et al., 2001
137 Substitutions Genomic: g.18955C>T
CDS: c.691C>T
AnimoAcid: p.Gln231X
Substitutions Direct sequencing, SSCP Gerard B et al., 2001
138 Substitutions Genomic: g.21303C>T
CDS: c.868C>T
AnimoAcid: p.Arg290X
Substitutions Direct sequencing, SSCP Gerard B et al., 2001
139 Substitutions Genomic: g.26440G>T
CDS: c.1384G>T
AnimoAcid: p.Glu462X
Substitutions Direct sequencing, SSCP Gerard B et al., 2001
140 Substitutions Genomic: g.3509C>G
CDS: c.177C>G
AnimoAcid: p.Cys59Trp
Substitutions Direct sequencing, SSCP Gerard B et al., 2001
141 Substitutions Genomic: g.23882A>C
CDS: c.919A>C
AnimoAcid: p.Thr307Pro
Substitutions Direct sequencing, SSCP Gerard B et al., 2001
142 Substitutions Genomic: g.29603T>G
CDS: c.1514T>G
AnimoAcid: p.Leu505Arg
Substitutions Direct sequencing, SSCP Gerard B et al., 2001
143 Deletion Genomic: g.3491_3496delCAGGGC
CDS: c.159_164delCAGGGC
AnimoAcid: p.Arg54_Ala55del
Deletion Direct sequencing, SSCP Gerard B et al., 2001
144 Insertion Genomic: g.2118_2119insC
CDS: c.92_93insC
AnimoAcid: p.Val32GlyfsX3
Insertion Direct sequencing, SSCP Gerard B et al., 2001
145 Insertion Genomic: g.11996_11997insAGGAA
CDS: c.290_291insAGGAA
AnimoAcid: p.Asn97LysfsX33
Insertion Direct sequencing, SSCP Gerard B et al., 2001
146 Insertion Genomic: g.23884_23885insGTTTC
CDS: c.921_922insGTTTC
AnimoAcid: p.Ile308SerfsX6
Insertion Direct sequencing, SSCP Gerard B et al., 2001
147 Substitutions Genomic: g.11956A>G
CDS: c.253-3A>G
AnimoAcid:
Substitutions Direct sequencing Lewis EM et al., 2008
148 Deletion Genomic: g.23926delG
CDS: c.963delG
AnimoAcid: p.Gly322AspfsX21
Deletion Direct sequencing, SSCP Rae J et al., 1998
149 Insertion Genomic: g.30850_30851insT
CDS: c.1662_1663insT
AnimoAcid: p.Glu555X
Insertion Direct sequencing, SSCP Oh HB et al., 2004
150 Substitutions Genomic: g.26370G>T
CDS: c.1315-1G>T
AnimoAcid:
Substitutions Direct sequencing, SSCP Oh HB et al., 2004
151 Insertion Genomic: g.88_89insG
CDS: c.27_28insG
AnimoAcid: p.Leu10fs
Insertion Direct sequencing, SSCP Oh HB et al., 2004
152 Deletion Genomic: g.23878delC
CDS: c.915delC
AnimoAcid: p.Phe305fs
Deletion Direct sequencing, SSCP Oh HB et al., 2004
153 Substitutions Genomic: g.13733T>C
CDS: c.422T>C
AnimoAcid: p.Leu141Pro
Substitutions Direct sequencing, SSCP Oh HB et al., 2004
154 Substitutions Genomic: g.21302G>A
CDS: c.867G>A
AnimoAcid: p.Trp289X
Substitutions Direct sequencing Anderson-Cohen M et al., 2003
155 Insertion Genomic: g.19006_19007insA
CDS: c.742_743insA
AnimoAcid: p.Ile248fs
Insertion Direct sequencing Hauck F et al., 2008
156 Substitutions Genomic: g.23870C>A
CDS: c.907C>A
AnimoAcid: p.His303Asn
Substitutions Direct sequencing, PCR based assay, SSCP Stasia MJ et al., 2002
157 Substitutions Genomic: g.23874C>G
CDS: c.911C>G
AnimoAcid: p.Pro304Arg
Substitutions Direct sequencing, PCR based assay, SSCP Stasia MJ et al., 2002
158 Substitutions Genomic: g.16130G>C
CDS: c.674+5G>C
AnimoAcid:
Substitutions Direct sequencing Barese CN et al., 2005
159 Substitutions Genomic: g.2147T>G
CDS: c.121T>G
AnimoAcid: p.Tyr41Asp
Substitutions Fluorescent sequencing, PCR based assay Jirapongsananuruk O et al., 2002
160 Substitutions Genomic: g.30797T>C
CDS: c.1609T>C
AnimoAcid: p.Cys537Arg
Substitutions Fluorescent sequencing, PCR based assay Jirapongsananuruk O et al., 2002
161 Substitutions Genomic: g.2079G>A
CDS: c.53G>A
AnimoAcid: p.Trp18X
Substitutions Direct sequencing Stasia MJ et al., 2005
162 Substitutions Genomic: g.13686G>A
CDS: c.375G>A
AnimoAcid: p.Trp125X
Substitutions Direct sequencing Stasia MJ et al., 2005
163 Substitutions Genomic: g.13780C>T
CDS: c.469C>T
AnimoAcid: p.Arg157X
Substitutions Direct sequencing Stasia MJ et al., 2005
164 Substitutions Genomic: g.23921G>T
CDS: c.958G>T
AnimoAcid: p.Glu320X
Substitutions Direct sequencing Stasia MJ et al., 2005
165 Substitutions Genomic: g.29637G>A
CDS: c.1548G>A
AnimoAcid: p.Trp516X
Substitutions Direct sequencing Stasia MJ et al., 2005
166 Deletion Genomic: g.23956delG
CDS: c.993delG
AnimoAcid: p.Val332CysfsX11
Deletion Direct sequencing Stasia MJ et al., 2005
167 Substitutions Genomic: g.29603T>G
CDS: c.1514T>G
AnimoAcid: p.Leu505Arg
Substitutions Direct sequencing Stasia MJ et al., 2005
168 Substitutions Genomic: g.2147T>G
CDS: c.121T>G
AnimoAcid: p.Tyr41Asp
Substitutions Direct sequencing Jirapongsananuruk O et al., 2003
169 Substitutions Genomic: g.30797T>C
CDS: c.1609T>C
AnimoAcid: p.Cys537Arg
Substitutions Direct sequencing Jirapongsananuruk O et al., 2003
170 Deletion Genomic: g.13750_13751delAG
CDS: c.439_440delAG
AnimoAcid: p.Arg147AlafsX3
Deletion Direct sequencing, SSCP von Goessel H et al., 2006
171 Deletion Genomic: g.19052delC
CDS: c.788delC
AnimoAcid: p.Ala263ValfsX6
Deletion Direct sequencing, SSCP von Goessel H et al., 2006
172 Deletion Genomic: g.23942delC
CDS: c.979delC
AnimoAcid: p.Val327SerfsX16
Deletion Direct sequencing, SSCP von Goessel H et al., 2006
173 Substitutions Genomic: g.3524C>A
CDS: c.192C>A
AnimoAcid: p.Cys64X
Substitutions Direct sequencing, SSCP von Goessel H et al., 2006
174 Substitutions Genomic: g.12024G>A
CDS: c.318G>A
AnimoAcid: p.Trp106X
Substitutions Direct sequencing, SSCP von Goessel H et al., 2006
175 Substitutions Genomic: g.13699C>T
CDS: c.388C>T
AnimoAcid: p.Arg130X
Substitutions Direct sequencing, SSCP von Goessel H et al., 2006
176 Substitutions Genomic: g.18940C>T
CDS: c.676C>T
AnimoAcid: p.Arg226X
Substitutions Direct sequencing, SSCP von Goessel H et al., 2006
177 Substitutions Genomic: g.26382C>G
CDS: c.1326C>G
AnimoAcid: p.Tyr442X
Substitutions Direct sequencing, SSCP von Goessel H et al., 2006
178 Substitutions Genomic: g.23882A>C
CDS: c.919A>C
AnimoAcid: p.Thr307Pro
Substitutions Direct sequencing, SSCP von Goessel H et al., 2006
179 Substitutions Genomic: g.23990A>C
CDS: c.1027A>C
AnimoAcid: p.Thr343Pro
Substitutions Direct sequencing, SSCP von Goessel H et al., 2006
180 Substitutions Genomic: g.107G>A
CDS: c.45+1G>A
AnimoAcid:
Substitutions Direct sequencing, SSCP von Goessel H et al., 2006
181 Substitutions Genomic: g.2071G>T
CDS: c.46-1G>T
AnimoAcid:
Substitutions Direct sequencing, SSCP von Goessel H et al., 2006
182 Substitutions Genomic: g.3589G>A
CDS: c.252+5G>A
AnimoAcid:
Substitutions Direct sequencing, SSCP von Goessel H et al., 2006
183 Substitutions Genomic: g.12044G>C
CDS: c.337+1G>C
AnimoAcid:
Substitutions Direct sequencing, SSCP von Goessel H et al., 2006
184 Substitutions Genomic: g.21238A>G
CDS: c.805-2A>G
AnimoAcid:
Substitutions Direct sequencing Ariga T et al., 1998
185 Duplications Genomic: g.3527dupG
CDS: c.195dupG
AnimoAcid: p.Leu66AlafsX37
Duplications Direct sequencing, SSCP Rae J et al., 1998
186 Deletion Genomic: g.23906_23908delAAG
CDS: c.943_945delAAG
AnimoAcid: p.Lys315del
Deletion Direct sequencing, PCR based assay Bu-Ghanim HN et al., 1995
187 Substitutions Genomic: g.18995G>A
CDS: c.731G>A
AnimoAcid: p.Cys244Tyr
Substitutions Direct sequencing, PCR based assay Bu-Ghanim HN et al., 1995
188 Duplications Genomic: g.23979dupC
CDS: c.1016dupC
AnimoAcid: p.Thr341TyrfsX7
Duplications Direct sequencing Wolach B et al., 2005
189 Substitutions Genomic: g.13699C>T
CDS: c.388C>T
AnimoAcid: p.Arg130X
Substitutions Direct sequencing Chollet-Martin S et al., 2007
190 Insertion Genomic: g.16083_16084insCATC
CDS: c.632_633insCATC
AnimoAcid: p.Phe212IlefsX15
Insertion Direct sequencing Chollet-Martin S et al., 2007
191 Substitutions Genomic: g.3494G>C
CDS: c.162G>C
AnimoAcid: p.Arg54Ser
Substitutions Direct sequencing Cross AR et al., 1995
192 Substitutions Genomic: g.11977C>T
CDS: c.271C>T
AnimoAcid: p.Arg91X
Substitutions Direct sequencing, Restriction enzyme analysis Vilaiphan P et al., 2007
193 Substitutions Genomic: g.13767T>A
CDS: c.456T>A
AnimoAcid: p.Tyr152X
Substitutions Direct sequencing, Restriction enzyme analysis Vilaiphan P et al., 2007
194 Deletion Genomic: g.26511delG
CDS: c.1455delG
AnimoAcid: p.Glu485AspfsX17
Deletion Direct sequencing, SSCP Rae J et al., 1998
195 Substitutions Genomic: g.30825T>C
CDS: c.1637T>C
AnimoAcid: p.Leu546Pro
Substitutions Direct sequencing Roesler J et al., 1999
196 Substitutions Genomic: g.16029C>T
CDS: c.578C>T
AnimoAcid: p.Ser193Phe
Substitutions Direct sequencing Roesler J et al., 1999
197 Substitutions Genomic: g.23975C>T
CDS: c.1012C>T
AnimoAcid: p.His338Tyr
Substitutions Direct sequencing Roesler J et al., 1999
198 Substitutions Genomic: g.23975C>T
CDS: c.1012C>T
AnimoAcid: p.His338Tyr
Substitutions Direct sequencing Yoshida LS et al., 1998
199 Substitutions Genomic: g.23979C>A
CDS: c.1016C>A
AnimoAcid: p.Pro339His
Substitutions Direct sequencing Roesler J et al., 1999
200 Substitutions Genomic: g.16116A>G
CDS: c.665A>G
AnimoAcid: p.His222Arg
Substitutions Direct sequencing Roesler J et al., 1999
201 Substitutions Genomic: g.13799G>A
CDS: c.483+5G>A
AnimoAcid:
Substitutions Direct sequencing Roesler J et al., 1999
202 Substitutions Genomic: g.24979T>G
CDS: c.1152-11T>G
AnimoAcid:
Substitutions Direct sequencing Roesler J et al., 1999
203 Substitutions Genomic: g.107G>C
CDS: c.45+1G>C
AnimoAcid:
Substitutions Direct sequencing Roesler J et al., 1999
204 Substitutions Genomic: g.2172G>A
CDS: c.141+5G>A
AnimoAcid:
Substitutions Direct sequencing Roesler J et al., 1999
205 Substitutions Genomic: g.29635T>C
CDS: c.1546T>C
AnimoAcid: p.Trp516Arg
Substitutions Direct sequencing Kaneda M et al., 1999
206 Deletion Genomic: g.26371delA
CDS: c.1315delA
AnimoAcid: p.Ile439Serfs
Deletion Direct sequencing Dusi S et al., 1998
207 Substitutions Genomic: g.15986G>A
CDS: c.535G>A
AnimoAcid: p.Gly179Arg
Substitutions Direct sequencing Dusi S et al., 1998
208 Deletion Genomic: g.101delG
CDS: c.40delG
AnimoAcid: p.Val14SerfsX8
Deletion Direct sequencing Dusi S et al., 1998
209 Substitutions Genomic: g.29637G>A
CDS: c.1548G>A
AnimoAcid: p.Trp516X
Substitutions Direct sequencing Dusi S et al., 1998
210 Deletion Genomic: g.21240_21332del
CDS: c.805_897del
AnimoAcid: p.Thr269_Lys299del
Deletion Direct sequencing Dusi S et al., 1998
211 Deletion Genomic: g.21377_23919del
CDS: c.892_906del
AnimoAcid: p.Thr298_Thr302del
Deletion Direct sequencing Dusi S et al., 1998
212 Substitutions Genomic: g.23888G>A
CDS: c.925G>A
AnimoAcid: p.Glu309Lys
Substitutions Direct sequencing Kaneda M et al., 1999
213 Substitutions Genomic: g.25097T>C
CDS: c.1259T>C
AnimoAcid: p.Leu420Pro
Substitutions Direct sequencing Kaneda M et al., 1999
214 Substitutions Genomic: g.12007C>T
CDS: c.301C>T
AnimoAcid: p.His101Tyr
Substitutions Direct sequencing Kaneda M et al., 1999
215 Substitutions Genomic: g.12007C>T
CDS: c.301C>T
AnimoAcid: p.His101Tyr
Substitutions Dideoxy fingerprinting Tsuda M et al., 1998
216 Deletion Genomic: g.18980_18984delATAAT
CDS: c.716_720delATAAT
AnimoAcid: p.Ile241SerfsX3
Deletion Direct sequencing, SSCP Rae J et al., 1998
217 Substitutions Genomic: g.2084G>C
CDS: c.58G>C
AnimoAcid: p.Gly20Arg
Substitutions Direct sequencing, SSCP Rae J et al., 1998
218 Substitutions Genomic: g.3494G>C
CDS: c.162G>C
AnimoAcid: p.Arg54Ser
Substitutions Direct sequencing, SSCP Rae J et al., 1998
219 Substitutions Genomic: g.3507T>C
CDS: c.175T>C
AnimoAcid: p.Cys59Arg
Substitutions Direct sequencing, SSCP Rae J et al., 1998
220 Substitutions Genomic: g.13667A>G
CDS: c.356A>G
AnimoAcid: p.His119Arg
Substitutions Direct sequencing, SSCP Rae J et al., 1998
221 Substitutions Genomic: g.13777G>A
CDS: c.466G>A
AnimoAcid: p.Ala156Thr
Substitutions Direct sequencing, SSCP Rae J et al., 1998
222 Substitutions Genomic: g.16078T>A
CDS: c.627T>A
AnimoAcid: p.His209Gln
Substitutions Direct sequencing, SSCP Rae J et al., 1998
223 Substitutions Genomic: g.16115C>A
CDS: c.664C>A
AnimoAcid: p.His222Asn
Substitutions Direct sequencing, SSCP Rae J et al., 1998
224 Substitutions Genomic: g.16115C>T
CDS: c.664C>T
AnimoAcid: p.His222Tyr
Substitutions Direct sequencing, SSCP Rae J et al., 1998
225 Substitutions Genomic: g.16116A>G
CDS: c.665A>G
AnimoAcid: p.His222Arg
Substitutions Direct sequencing, SSCP Rae J et al., 1998
226 Deletion-Insertion Genomic: g.16118_16119delinsTT
CDS: c.667_668delinsTT
AnimoAcid: p.Gly223Leu
Deletion-Insertion Direct sequencing, SSCP Rae J et al., 1998
227 Substitutions Genomic: g.18994T>C
CDS: c.730T>C
AnimoAcid: p.Cys244Arg
Substitutions Direct sequencing, SSCP Rae J et al., 1998
228 Substitutions Genomic: g.23888G>A
CDS: c.925G>A
AnimoAcid: p.Glu309Lys
Substitutions Direct sequencing, SSCP Rae J et al., 1998
229 Substitutions Genomic: g.23928G>A
CDS: c.965G>A
AnimoAcid: p.Gly322Glu
Substitutions Direct sequencing, SSCP Rae J et al., 1998
230 Substitutions Genomic: g.23936A>T
CDS: c.973A>T
AnimoAcid: p.Ile325Phe
Substitutions Direct sequencing, SSCP Rae J et al., 1998
231 Substitutions Genomic: g.23960T>C
CDS: c.997T>C
AnimoAcid: p.Ser333Pro
Substitutions Direct sequencing, SSCP Rae J et al., 1998
232 Substitutions Genomic: g.23979C>A
CDS: c.1016C>A
AnimoAcid: p.Pro339His
Substitutions Direct sequencing, SSCP Rae J et al., 1998
233 Substitutions Genomic: g.24030G>C
CDS: c.1067G>C
AnimoAcid: p.Arg356Pro
Substitutions Direct sequencing, SSCP Rae J et al., 1998
234 Substitutions Genomic: g.25052T>G
CDS: c.1214T>G
AnimoAcid: p.Met405Arg
Substitutions Direct sequencing, SSCP Rae J et al., 1998
235 Substitutions Genomic: g.25060G>A
CDS: c.1222G>A
AnimoAcid: p.Gly408Arg
Substitutions Direct sequencing, SSCP Rae J et al., 1998
236 Substitutions Genomic: g.25061G>A
CDS: c.1223G>A
AnimoAcid: p.Gly408Glu
Substitutions Direct sequencing, SSCP Rae J et al., 1998
237 Substitutions Genomic: g.25082C>A
CDS: c.1244C>A
AnimoAcid: p.Pro415His
Substitutions Direct sequencing, SSCP Rae J et al., 1998
238 Substitutions Genomic: g.25082C>T
CDS: c.1244C>T
AnimoAcid: p.Pro415Leu
Substitutions Direct sequencing, SSCP Rae J et al., 1998
239 Substitutions Genomic: g.25102T>C
CDS: c.1264T>C
AnimoAcid: p.Ser422Pro
Substitutions Direct sequencing, SSCP Rae J et al., 1998
240 Substitutions Genomic: g.26413T>C
CDS: c.1357T>C
AnimoAcid: p.Trp453Arg
Substitutions Direct sequencing, SSCP Rae J et al., 1998
241 Substitutions Genomic: g.29637G>T
CDS: c.1548G>T
AnimoAcid: p.Trp516Cys
Substitutions Direct sequencing, SSCP Rae J et al., 1998
242 Substitutions Genomic: g.30789T>A
CDS: c.1601T>A
AnimoAcid: p.Val534Asp
Substitutions Direct sequencing, SSCP Rae J et al., 1998
243 Substitutions Genomic: g.30797T>C
CDS: c.1609T>C
AnimoAcid: p.Cys537Arg
Substitutions Direct sequencing, SSCP Rae J et al., 1998
244 Substitutions Genomic: g.3549C>T
CDS: c.217C>T
AnimoAcid: p.Arg73X
Substitutions Direct sequencing, SSCP Rae J et al., 1998
245 Substitutions Genomic: g.73G>A
CDS: c.12G>A
AnimoAcid: p.Trp4X
Substitutions Direct sequencing, SSCP Rae J et al., 1998
246 Substitutions Genomic: g.11977C>T
CDS: c.271C>T
AnimoAcid: p.Arg91X
Substitutions Direct sequencing, SSCP Rae J et al., 1998
247 Substitutions Genomic: g.13699C>T
CDS: c.388C>T
AnimoAcid: p.Arg130X
Substitutions Direct sequencing, SSCP Rae J et al., 1998
248 Substitutions Genomic: g.13767T>A
CDS: c.456T>A
AnimoAcid: p.Tyr152X
Substitutions Direct sequencing, SSCP Rae J et al., 1998
249 Substitutions Genomic: g.13780C>T
CDS: c.469C>T
AnimoAcid: p.Arg157X
Substitutions Direct sequencing, SSCP Rae J et al., 1998
250 Substitutions Genomic: g.16006C>A
CDS: c.555C>A
AnimoAcid: p.Cys185X
Substitutions Direct sequencing, SSCP Rae J et al., 1998
251 Substitutions Genomic: g.18940C>T
CDS: c.676C>T
AnimoAcid: p.Arg226X
Substitutions Direct sequencing, SSCP Rae J et al., 1998
252 Substitutions Genomic: g.19000C>T
CDS: c.736C>T
AnimoAcid: p.Gln246X
Substitutions Direct sequencing, SSCP Rae J et al., 1998
253 Substitutions Genomic: g.21250G>A
CDS: c.815G>A
AnimoAcid: p.Trp272X
Substitutions Direct sequencing, SSCP Rae J et al., 1998
254 Substitutions Genomic: g.21303C>T
CDS: c.868C>T
AnimoAcid: p.Arg290X
Substitutions Direct sequencing, SSCP Rae J et al., 1998
255 Substitutions Genomic: g.23969G>T
CDS: c.1006G>T
AnimoAcid: p.Glu336X
Substitutions Direct sequencing, SSCP Rae J et al., 1998
256 Substitutions Genomic: g.24102G>A
CDS: c.1139G>A
AnimoAcid: p.Trp380X
Substitutions Direct sequencing, SSCP Rae J et al., 1998
257 Substitutions Genomic: g.26376C>A
CDS: c.1320C>A
AnimoAcid: p.Tyr440X
Substitutions Direct sequencing, SSCP Rae J et al., 1998
258 Substitutions Genomic: g.26385G>A
CDS: c.1329G>A
AnimoAcid: p.Trp443X
Substitutions Direct sequencing, SSCP Rae J et al., 1998
259 Substitutions Genomic: g.26414G>A
CDS: c.1358G>A
AnimoAcid: p.Trp453X
Substitutions Direct sequencing, SSCP Rae J et al., 1998
260 Substitutions Genomic: g.29608C>T
CDS: c.1519C>T
AnimoAcid: p.Gln507X
Substitutions Direct sequencing, SSCP Rae J et al., 1998
261 Deletion Genomic: g.16094_16096delTTC
CDS: c.643_645delTTC
AnimoAcid: p.Phe215del
Deletion Dideoxy fingerprinting Jendrossek V et al., 1997
262 Substitutions Genomic: g.18940C>T
CDS: c.676C>T
AnimoAcid: p.Arg226X
Substitutions NA van Montfrans JM et al., 2009
263 Substitutions Genomic: g.29588A>G
CDS: c.1499A>G
AnimoAcid: p.Asp500Gly
Substitutions Direct sequencing Leusen JH et al., 1994
264 Duplications Genomic: g.3490dupC
CDS: c.158dupC
AnimoAcid: p.Arg54GlnfsX102
Duplications Direct sequencing, SSCP Rae J et al., 1998
265 Deletion-Insertion Genomic: g.29621_29627delATGGACGinsTTCA
CDS: c.1532_1538delATGGACGinsTTCA
AnimoAcid: p.Tyr511_Arg513delinsPheGln
Deletion-Insertion Direct sequencing Jirapongsananuruk O et al., 2007
266 Substitutions Genomic: g.2071G>C
CDS: c.46-1G>C
AnimoAcid: p.Leu16_Gly47del
Substitutions Direct sequencing Lee PP et al., 2008
267 Substitutions Genomic: g.11958G>A
CDS: c.253-1G>A
AnimoAcid: p.Arg89SerfsX13
Substitutions Direct sequencing Lee PP et al., 2008
268 Substitutions Genomic: g.16028T>C
CDS: c.577T>C
AnimoAcid: p.Ser193Pro
Substitutions Direct sequencing Lee PP et al., 2008
269 Deletion Genomic: g.18977delT
CDS: c.713delT
AnimoAcid: p.Val238GlyfsX4
Deletion Direct sequencing Lee PP et al., 2008
270 Substitutions Genomic: g.23898T>A
CDS: c.935T>A
AnimoAcid: p.Met312Lys
Substitutions Direct sequencing Lee PP et al., 2008
271 Deletion Genomic: g.26383delT
CDS: c.1327delT
AnimoAcid: p.Trp443fs
Deletion Direct sequencing Lee PP et al., 2008
272 Substitutions Genomic: g.26493C>A
CDS: c.1437C>A
AnimoAcid: p.Tyr479X
Substitutions Direct sequencing Lee PP et al., 2008
273 Substitutions Genomic: g.29587G>C
CDS: c.1498G>C
AnimoAcid: p.Asp500His
Substitutions Direct sequencing Lee PP et al., 2008
274 Substitutions Genomic: g.3584G>A
CDS: c.252G>A
AnimoAcid: p.Ser48_Ala84del
Substitutions Direct sequencing Lee PP et al., 2008
275 Deletion Genomic: g.16097_16099delTTC
CDS: c.646_648delTTC
AnimoAcid: p.Phe216del
Deletion Direct sequencing Lee PP et al., 2008
276 Substitutions Genomic: g.16064T>A
CDS: c.613T>A
AnimoAcid: p.Phe205Ile
Substitutions Direct sequencing Lee PP et al., 2008
277 Insertion Genomic: g.19006_19007insA
CDS: c.742_743insA
AnimoAcid: p.Ile248AsnfsX36
Insertion Direct sequencing Lee PP et al., 2008
278 Substitutions Genomic: g.21303C>T
CDS: c.868C>T
AnimoAcid: p.Arg290X
Substitutions Direct sequencing Lee PP et al., 2008
279 Substitutions Genomic: g.23988T>A
CDS: c.1025T>A
AnimoAcid: p.Leu342Gln
Substitutions Direct sequencing Lee PP et al., 2008
280 Substitutions Genomic: g.29644G>T
CDS: c.1555G>T
AnimoAcid: p.Glu519X
Substitutions Direct sequencing Lee PP et al., 2008
281 Substitutions Genomic: g.13749C>T
CDS: c.438C>T
AnimoAcid: p.Arg147X
Substitutions Dideoxy fingerprinting Ariga T et al., 1994
282 Substitutions Genomic: g.23978C>A
CDS: c.1015C>A
AnimoAcid: p.Pro339His
Substitutions Direct sequencing Ariga T et al., 1994
283 Substitutions Genomic: g.26484C>A
CDS: c.1428C>A
AnimoAcid: p.Tyr476X
Substitutions Direct sequencing Ariga T et al., 1994
284 Deletion Genomic: g.12001delA
CDS: c.295delA
AnimoAcid: p.Thr99ProfsX9
Deletion Direct sequencing, SSCP Rae J et al., 1998
285 Deletion Genomic: g.13665delA
CDS: c.354delA
AnimoAcid: p.His119IlefsX9
Deletion Direct sequencing, SSCP Rae J et al., 1998
286 Deletion-Insertion Genomic: g.13753_13754delCAinsT
CDS: c.442_443delCAinsT
AnimoAcid: p.Gln148X
Deletion-Insertion Direct sequencing, SSCP Rae J et al., 1998
287 Substitutions Genomic: g.23948T>C
CDS: c.985T>C
AnimoAcid: p.Cys329Arg
Substitutions Direct sequencing, SSCP Barese C et al., 2004
288 Substitutions Genomic: g.21303C>T
CDS: c.868C>T
AnimoAcid: p.Arg290X
Substitutions Direct sequencing, SSCP Barese C et al., 2004
289 Substitutions Genomic: g.16130G>C
CDS: c.674+5G>C
AnimoAcid:
Substitutions Direct sequencing, SSCP Barese C et al., 2004
290 Substitutions Genomic: g.3585G>A
CDS: c.252+1G>A
AnimoAcid:
Substitutions Direct sequencing, SSCP Barese C et al., 2004
291 Substitutions Genomic: g.3473G>C
CDS: c.142-1G>C
AnimoAcid:
Substitutions Direct sequencing, SSCP Barese C et al., 2004
292 Substitutions Genomic: g.13795G>A
CDS: c.483+1G>A
AnimoAcid:
Substitutions Direct sequencing, SSCP Barese C et al., 2004
293 Substitutions Genomic: g.2168G>A
CDS: c.141+1G>A
AnimoAcid:
Substitutions Direct sequencing, SSCP Barese C et al., 2004
294 Deletion Genomic: g.19019_19020delGA
CDS: c.755_756delGA
AnimoAcid: p.Gly252GlufsX31
Deletion Direct sequencing, SSCP Barese C et al., 2004
295 Substitutions Genomic: g.16125A>T
CDS: c.674A>T
AnimoAcid: p.Glu225Val
Substitutions Direct sequencing, SSCP Barese C et al., 2004
296 Substitutions Genomic: g.3502C>A
CDS: c.170C>A
AnimoAcid: p.Ala57Glu
Substitutions Dideoxy fingerprinting Ariga T et al., 1993
297 Duplications Genomic: g.26512dupT
CDS: c.1456dupT
AnimoAcid: p.Ser486PhefsX11
Duplications Direct sequencing, SSCP Rae J et al., 1998
298 Deletion Genomic: g.29552delC
CDS: c.1463delC
AnimoAcid: p.Asn489IlefsX14
Deletion Direct sequencing, SSCP Rae J et al., 1998
299 Deletion Genomic: g.29616_29617delTT
CDS: c.1527_1528delTT
AnimoAcid: p.Leu510ValfsX8
Deletion Direct sequencing, SSCP Rae J et al., 1998
300 Substitutions Genomic: g.112T>C
CDS: c.45+6T>C
AnimoAcid:
Substitutions Direct sequencing, SSCP Rae J et al., 1998
301 Substitutions Genomic: g.3472A>G
CDS: c.142-2A>G
AnimoAcid:
Substitutions Direct sequencing, SSCP Rae J et al., 1998
302 Substitutions Genomic: g.2168G>T
CDS: c.141+1G>T
AnimoAcid:
Substitutions Direct sequencing, SSCP Rae J et al., 1998
303 Substitutions Genomic: g.2168G>A
CDS: c.141+1G>A
AnimoAcid:
Substitutions Direct sequencing, SSCP Rae J et al., 1998
304 Substitutions Genomic: g.11951A>G
CDS: c.253-8A>G
AnimoAcid:
Substitutions Direct sequencing, SSCP Rae J et al., 1998
305 Substitutions Genomic: g.3589G>C
CDS: c.252+2G>C
AnimoAcid:
Substitutions Direct sequencing, SSCP Rae J et al., 1998
306 Substitutions Genomic: g.13796T>C
CDS: c.483+2T>C
AnimoAcid:
Substitutions Direct sequencing, SSCP Rae J et al., 1998
307 Substitutions Genomic: g.13795G>T
CDS: c.483+1G>T
AnimoAcid:
Substitutions Direct sequencing, SSCP Rae J et al., 1998
308 Substitutions Genomic: g.13799G>A
CDS: c.483+5G>A
AnimoAcid:
Substitutions Direct sequencing, SSCP Rae J et al., 1998
309 Deletion Genomic: g.16128_16131delGAGT
CDS: c.674+3_674+6delGAGT
AnimoAcid:
Deletion Direct sequencing, SSCP Rae J et al., 1998
310 Substitutions Genomic: g.16131T>A
CDS: c.674+6T>A
AnimoAcid:
Substitutions Direct sequencing, SSCP Rae J et al., 1998
311 Substitutions Genomic: g.21239G>A
CDS: c.805-1G>A
AnimoAcid:
Substitutions Direct sequencing, SSCP Rae J et al., 1998
312 Substitutions Genomic: g.26370G>C
CDS: c.1315-1G>C
AnimoAcid:
Substitutions Direct sequencing, SSCP Rae J et al., 1998
313 Substitutions Genomic: g.25153G>A
CDS: c.1314+1G>A
AnimoAcid:
Substitutions Direct sequencing, SSCP Rae J et al., 1998
314 Deletion Genomic: g.23906_23908delAAG
CDS: c.943_945delAAG
AnimoAcid: p.Lys315del
Deletion Direct sequencing, SSCP Rae J et al., 1998
315 Deletion Genomic: g.24113_24116del
CDS: c.1150_1151+2del
AnimoAcid:
Deletion Direct sequencing, SSCP Rae J et al., 1998
316 Deletion Genomic: g.13793_13798del
CDS: c.482_483+4del
AnimoAcid:
Deletion Direct sequencing, SSCP Rae J et al., 1998
317 Deletion Genomic: g.30776_30898del
CDS: c.1588_1710del
AnimoAcid: p.Thr530_Phe570del
Deletion Direct sequencing, SSCP Rae J et al., 1998
318 Substitutions Genomic: g.11947A>G
CDS: c.253-8A>G
AnimoAcid:
Substitutions Direct sequencing, SSCP Rae J et al., 1998
319 Deletion Genomic: g.(26371-?)_30901+?del
CDS: c.1315-?_1713+?del
AnimoAcid: p.Ile439_Phe570del
Deletion Direct sequencing, SSCP Rae J et al., 1998
320 Substitutions Genomic: g.2109G>A
CDS: c.83G>A
AnimoAcid: p.Trp28X
Substitutions Denaturing HPLC, Direct sequencing Di Matteo G et al., 2009
321 Substitutions Genomic: g.2153A>T
CDS: c.127A>T
AnimoAcid: p.Arg43X
Substitutions Denaturing HPLC, Direct sequencing Di Matteo G et al., 2009
322 Substitutions Genomic: g.13699C>T
CDS: c.388C>T
AnimoAcid: p.Arg130X
Substitutions Denaturing HPLC, Direct sequencing Di Matteo G et al., 2009
323 Substitutions Genomic: g.13780C>T
CDS: c.469C>T
AnimoAcid: p.Arg157X
Substitutions Denaturing HPLC, Direct sequencing Di Matteo G et al., 2009
324 Substitutions Genomic: g.18955C>T
CDS: c.691C>T
AnimoAcid: p.Gln231X
Substitutions Denaturing HPLC, Direct sequencing Di Matteo G et al., 2009
325 Substitutions Genomic: g.21303G>T
CDS: c.868C>T
AnimoAcid: p.Arg290X
Substitutions Denaturing HPLC, Direct sequencing Di Matteo G et al., 2009
326 Substitutions Genomic: g.23969G>T
CDS: c.1006G>T
AnimoAcid: p.Glu336X
Substitutions Denaturing HPLC, Direct sequencing Di Matteo G et al., 2009
327 Substitutions Genomic: g.24086G>T
CDS: c.1123G>T
AnimoAcid: p.Glu375X
Substitutions Denaturing HPLC, Direct sequencing Di Matteo G et al., 2009
328 Substitutions Genomic: g.62A>G
CDS: c.1A>G
AnimoAcid: p.Met1Val
Substitutions Denaturing HPLC, Direct sequencing Di Matteo G et al., 2009
329 Substitutions Genomic: g.2084G>A
CDS: c.58G>A
AnimoAcid: p.Gly20Arg
Substitutions Denaturing HPLC, Direct sequencing Di Matteo G et al., 2009
330 Substitutions Genomic: g.23888G>A
CDS: c.925G>A
AnimoAcid: p.Glu309Lys
Substitutions Denaturing HPLC, Direct sequencing Di Matteo G et al., 2009
331 Substitutions Genomic: g.24039G>C
CDS: c.1076G>C
AnimoAcid: p.Gly359Ala
Substitutions Denaturing HPLC, Direct sequencing Di Matteo G et al., 2009
332 Substitutions Genomic: g.26413T>A
CDS: c.1357T>A
AnimoAcid: p.Trp453Arg
Substitutions Denaturing HPLC, Direct sequencing Di Matteo G et al., 2009
333 Deletion Genomic: g.3516delT
CDS: c.184delT
AnimoAcid: p.Phe62SerfsX5
Deletion Denaturing HPLC, Direct sequencing Di Matteo G et al., 2009
334 Deletion Genomic: g.15835_16416del
CDS: c.484-100_674+291del
AnimoAcid: p.Asn162_Glu225del
Deletion Denaturing HPLC, Direct sequencing Di Matteo G et al., 2009
335 Deletion Genomic: g.18940+?_19068+?del
CDS: c.674+?_804+?del
AnimoAcid: p.Arg226_Met268del
Deletion Denaturing HPLC, Direct sequencing Di Matteo G et al., 2009
336 Deletion Genomic: g.19019delG
CDS: c.755delG
AnimoAcid: p.Gly252GlufsX3
Deletion Denaturing HPLC, Direct sequencing Di Matteo G et al., 2009
337 Deletion Genomic: g.62+?_3584+?del
CDS: c.1+?_252+?del
AnimoAcid: p.Met1_Ala84del
Deletion Denaturing HPLC, Direct sequencing Di Matteo G et al., 2009
338 Duplications Genomic: g.103_106dupCATT
CDS: c.42_45dupCATT
AnimoAcid: p.Leu16HisfsX20
Duplications Denaturing HPLC, Direct sequencing Di Matteo G et al., 2009
339 Substitutions Genomic: g.2172G>T
CDS: c.141+5G>T
AnimoAcid: p.Leu16_Gly47del
Substitutions Denaturing HPLC, Direct sequencing, PCR based assay Di Matteo G et al., 2009
340 Substitutions Genomic: g.3473G>A
CDS: c.142-1G>A
AnimoAcid: p.Ser48_Ala84del
Substitutions Denaturing HPLC, Direct sequencing, PCR based assay Di Matteo G et al., 2009
341 Substitutions Genomic: g.3584G>A
CDS: c.252G>A
AnimoAcid: p.Ser48_Ala84del
Substitutions Denaturing HPLC, Direct sequencing, PCR based assay Di Matteo G et al., 2009
342 Substitutions Genomic: g.14772G>T
CDS: c.483+978G>T
AnimoAcid:
Substitutions SSCP Noack D et al., 2001
343 Insertion Genomic: g.13794+?_15935-?ins957
CDS: c.483+?_?-484ins957
AnimoAcid:
Insertion PCR based assay Meischl C et al., 2000
344 Substitutions Genomic: g.17205A>G
CDS: c.674+1080A>G
AnimoAcid:
Substitutions PCR based assay, SSCP Noack D et al., 1999
345 Substitutions Genomic: g.17782G>A
CDS: c.675-1157G>A
AnimoAcid: p.Glu225AspfsX2
Substitutions Fluorescent sequencing, PCR based assay Rump A et al., 2006
346 Deletion-Insertion Genomic: g.29610_29614delAAAGAinsCATCTGGG
CDS: c.1521_1525delAAAGAinsCATCTGGG
AnimoAcid: p.Gln507_Thr509delinsHisIleTrpAla
Deletion-Insertion Dideoxy fingerprinting Azuma H et al., 1995
347 Insertion Genomic: c.-67_-66insT
CDS:
AnimoAcid:
Insertion Direct sequencing, PCR based assay Defendi F et al., 2009
348 Insertion Genomic: g.25092_25093insA
CDS: c.1254_1255insA
AnimoAcid: p.Ile419AsnfsX12
Insertion SSCP Agudelo-Florez P et al., 2006
349 Substitutions Genomic: g.25153G>A
CDS: c.1314+1G>A
AnimoAcid:
Substitutions SSCP Agudelo-Florez P et al., 2006
350 Substitutions Genomic: g.3584G>A
CDS: c.252G>A
AnimoAcid:
Substitutions Direct sequencing Brunner J et al., 2007
351 Substitutions Genomic: g.18956A>C
CDS: c.692A>C
AnimoAcid: p.Gln231Pro
Substitutions Direct sequencing Bustamante J et al., 2011
352 Substitutions Genomic: g.15983A>C
CDS: c.532A>C
AnimoAcid: p.Thr178Pro
Substitutions Direct sequencing Bustamante J et al., 2011
353 Substitutions Genomic: g.16129A>G
CDS: c.674+4A>G
AnimoAcid:
Substitutions Direct sequencing Perez-Aradas V et al., 2011
354 Substitutions Genomic: c.-67T>C
CDS:
AnimoAcid:
Substitutions Direct sequencing Stasia MJ et al., 2003
355 Insertion Genomic: g.67_68insG
CDS: c.6_7insG
AnimoAcid: p.Asn3GlufsX6
Insertion Direct sequencing Vieira AP et al., 2004
356 Deletion Genomic: g.(62-?)_3584+?del
CDS: c.(1-?)_252+?del
AnimoAcid:
Deletion Southern blotting Jurkowska M et al., 2004
357 Substitutions Genomic: g.3584G>A
CDS: c.252G>A
AnimoAcid: p.Ser48_Ala84del
Substitutions Direct sequencing Jurkowska M et al., 2004
358 Substitutions Genomic: g.29587G>T
CDS: c.1498G>T
AnimoAcid: p.Asp500Tyr
Substitutions Direct sequencing Jurkowska M et al., 2004
359 Deletion Genomic: g.29667delA
CDS: c.1578delA
AnimoAcid: p.Gln526HisfsX7
Deletion Direct sequencing Jurkowska M et al., 2004
360 Substitutions Genomic: c.-67T>C
CDS:
AnimoAcid:
Substitutions SSCP Newburger PE et al., 1994
361 Substitutions Genomic: c.-69A>C
CDS:
AnimoAcid:
Substitutions SSCP Newburger PE et al., 1994
362 Substitutions Genomic: c.-65C>T
CDS:
AnimoAcid:
Substitutions Direct sequencing Suzuki S et al., 1998
363 Substitutions Genomic: c.-64C>T
CDS:
AnimoAcid:
Substitutions Direct sequencing Suzuki S et al., 1998
364 Substitutions Genomic: g.18964G>T
CDS: c.700G>T
AnimoAcid: p.Glu234X
Substitutions Direct sequencing Koker MY et al., 2007
365 Substitutions Genomic: g.19000C>T
CDS: c.736C>T
AnimoAcid: p.Gln246X
Substitutions Direct sequencing Koker MY et al., 2007
366 Substitutions Genomic: g.25082C>A
CDS: c.1244C>A
AnimoAcid: p.Pro415His
Substitutions Dideoxy fingerprinting, Northern blotting Dinauer MC et al., 1989
367 Substitutions Genomic: g.18940C>T
CDS: c.676C>T
AnimoAcid: p.Arg226X
Substitutions PCR based assay, SSCP Newburger PE et al., 1994
368 Substitutions Genomic: g.23870C>T
CDS: c.907C>T
AnimoAcid: p.His303Tyr
Substitutions Direct sequencing Isman-Nelkenbaum G et al., 2011
369 Deletion-Insertion Genomic: g.25002_25004delinsATC
CDS: c.1164_1166delinsATC
AnimoAcid: p.Asp388_Gly389delinsGluSer
Deletion-Insertion Direct sequencing Naidoo R et al., 2011
370 Deletion, Insertion Genomic: g.25018_25020delins15
CDS: c.1180_1182delins15
AnimoAcid: p.Ala394delinsMetfs
Deletion, Insertion PCR based assay Ariga T et al., 1995
371 Substitutions Genomic: c.-64C>T
CDS:
AnimoAcid:
Substitutions Direct sequencing Weening RS et al., 2000
372 Substitutions Genomic: c.-65C>T
CDS:
AnimoAcid:
Substitutions Direct sequencing Weening RS et al., 2000
373 Substitutions Genomic: g.2071G>T
CDS: c.46-1G>T
AnimoAcid: p.Leu16_Gly47del
Substitutions Direct sequencing Martel C et al., 2012
374 Substitutions Genomic: g.3475C>G
CDS: c.143C>G
AnimoAcid: p.Ser48X
Substitutions Direct sequencing Martel C et al., 2012
375 Substitutions Genomic: g.2168G>A
CDS: c.141+1G>A
AnimoAcid: p.Leu16_Gly47del
Substitutions Direct sequencing Martel C et al., 2012
376 Substitutions Genomic: g.13780C>T
CDS: c.469C>T
AnimoAcid: p.Arg157X
Substitutions Direct sequencing Martel C et al., 2012
377 Substitutions Genomic: g.15944G>T
CDS: c.493G>T
AnimoAcid: p.Gly165X
Substitutions Direct sequencing Martel C et al., 2012
378 Substitutions Genomic: g.16076C>G
CDS: c.625C>G
AnimoAcid: p.His209Asp
Substitutions Direct sequencing Martel C et al., 2012
379 Substitutions Genomic: g.29597C>T
CDS: c.1508C>T
AnimoAcid: p.Thr503Ile
Substitutions Direct sequencing Martel C et al., 2012
380 Substitutions Genomic: g.16076C>T
CDS: c.625C>T
AnimoAcid: p.His209Tyr
Substitutions Direct sequencing Martel C et al., 2012
381 Deletion Genomic: g.16129delAGTG
CDS: c.674+4_674+7delAGTG
AnimoAcid: p.Asn162_Glu225del
Deletion Direct sequencing Martel C et al., 2012
382 Substitutions Genomic: g.18955C>T
CDS: c.691C>T
AnimoAcid: p.Gln231X
Substitutions Direct sequencing Martel C et al., 2012
383 Substitutions Genomic: g.19016G>A
CDS: c.752G>A
AnimoAcid: p.Trp251X
Substitutions Direct sequencing Martel C et al., 2012
384 Substitutions Genomic: g.21333G>A
CDS: c.897+1G>A
AnimoAcid: p.Thr269_Lys299del
Substitutions Direct sequencing Martel C et al., 2012
385 Deletion-Insertion Genomic: g.23987_23989delCTGinsT
CDS: c.1024_1026delCTGinsT
AnimoAcid: p.Leu342TyrfsX5
Deletion-Insertion Direct sequencing Martel C et al., 2012
386 Substitutions Genomic: g.24039G>C
CDS: c.1076G>C
AnimoAcid: p.Gly359Ala
Substitutions Direct sequencing Martel C et al., 2012
387 Substitutions Genomic: g.25060G>A
CDS: c.1222G>A
AnimoAcid: p.Gly408Arg
Substitutions Direct sequencing Martel C et al., 2012
388 Substitutions Genomic: g.25082C>T
CDS: c.1244C>T
AnimoAcid: p.Pro415Leu
Substitutions Direct sequencing Martel C et al., 2012
389 Insertion Genomic: g.26429insT
CDS: c.1373insT
AnimoAcid: p.Gln459AlafsX27
Insertion Direct sequencing Martel C et al., 2012
390 Substitutions Genomic: g.26518G>A
CDS: c.1461+1G>A
AnimoAcid: p.Ile439_Gln487del
Substitutions Direct sequencing Martel C et al., 2012
391 Deletion Genomic: g.(?_1)_(19068_?)del
CDS: c.(?_-61)_(804_?)del
AnimoAcid:
Deletion PCR based assay, Southern blotting Faizunnessa NN et al., 1997
392 Deletion Genomic: g.(?_1)_(33445_?)del
CDS: c.(?_-61)_(*2544_?)del
AnimoAcid:
Deletion Southern blotting de Saint-Basile G et al., 1988
393 Substitutions Genomic: g.16130G>A
CDS: c.674+5G>A
AnimoAcid:
Substitutions Direct sequencing Ahlin A et al., 1995
394 Substitutions Genomic: g.11977C>T
CDS: c.271C>T
AnimoAcid: p.Arg91X
Substitutions Direct sequencing Ahlin A et al., 1995
395 Substitutions Genomic: g.24068T>G
CDS: c.1105T>G
AnimoAcid: p.Cys369Gly
Substitutions Direct sequencing Ahlin A et al., 1995
396 Substitutions Genomic: g.13780C>T
CDS: c.469C>T
AnimoAcid: p.Arg157X
Substitutions Direct sequencing Ahlin A et al., 1995
397 Deletion Genomic: g.(?_1)_(33445_?)del
CDS: c.(?_-61)_(*2544_?)del
AnimoAcid:
Deletion Direct sequencing Ahlin A et al., 1995
398 Duplications Genomic: g.18915_18954dup40
CDS: c.675-24_690dup40
AnimoAcid: p.Gln231SerfsX23
Duplications Direct sequencing Rabbani H et al., 1993