SI.No | Mutation change | 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 |