CD40LG
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.11119C>T
CDS: c.666C>T
AnimoAcid: p.Ser222Phe		 Substitutions SSCP Lopez-Granados E et al., 2003
2 Substitutions Genomic: g.2149C>A
CDS: c.216C>A
AnimoAcid: p.Cys72X		 Substitutions Direct sequencing Erdos M et al., 2008
3 Substitutions Genomic: g.6255G>T
CDS: c.346+1G>T
AnimoAcid: 		Substitutions Direct sequencing Erdos M et al., 2008
4 Deletion Genomic: g.10923delA
CDS: c.470delA
AnimoAcid: p.Asn157fs		 Deletion Direct sequencing Erdos M et al., 2008
5 Substitutions Genomic: g.10974A>G
CDS: c.521A>G
AnimoAcid: p.Gln174Arg		 Substitutions Direct sequencing Erdos M et al., 2008
6 Substitutions Genomic: g.11107C>A
CDS: c.654C>A
AnimoAcid: p.Cys218X		 Substitutions Direct sequencing Erdos M et al., 2008
7 Substitutions Genomic: g.11147C>T
CDS: c.694C>T
AnimoAcid: p.Gln232X		 Substitutions Direct sequencing Erdos M et al., 2008
8 Substitutions Genomic: g.10894C>A
CDS: c.441C>A
AnimoAcid: p.Thr147Asn		 Substitutions Direct sequencing Seyama K et al., 1998
9 Substitutions Genomic: g.8217T>A
CDS: c.384T>A
AnimoAcid: p.Ser128Arg		 Substitutions Direct sequencing Seyama K et al., 1998
10 Substitutions Genomic: g.8219A>G
CDS: c.386A>G
AnimoAcid: p.Glu129Gly		 Substitutions Direct sequencing Seyama K et al., 1998
11 Substitutions Genomic: g.10962A>G
CDS: c.509A>G
AnimoAcid: p.Tyr170Cys		 Substitutions Direct sequencing Seyama K et al., 1998
12 Substitutions Genomic: g.11133G>T
CDS: c.680G>T
AnimoAcid: p.Gly227Val		 Substitutions Direct sequencing Seyama K et al., 1998
13 Substitutions Genomic: g.11145T>C
CDS: c.692T>C
AnimoAcid: p.Leu231Ser		 Substitutions Direct sequencing Seyama K et al., 1998
14 Substitutions Genomic: g.11156G>C
CDS: c.703G>C
AnimoAcid: p.Ala235Pro		 Substitutions Direct sequencing Seyama K et al., 1998
15 Substitutions Genomic: g.11214C>T
CDS: c.761C>T
AnimoAcid: p.Thr254Met		 Substitutions Direct sequencing Seyama K et al., 1998
16 Substitutions Genomic: g.11226T>C
CDS: c.773T>C
AnimoAcid: p.Leu258Ser		 Substitutions Direct sequencing Seyama K et al., 1998
17 Substitutions Genomic: g.103C>T
CDS: c.31C>T
AnimoAcid: p.Arg11X		 Substitutions Direct sequencing Seyama K et al., 1998
18 Substitutions Genomic: g.2099G>T
CDS: c.166G>T
AnimoAcid: p.Glu56X		 Substitutions Direct sequencing Seyama K et al., 1998
19 Substitutions Genomic: g.10872G>A
CDS: c.419G>A
AnimoAcid: p.Trp140X		 Substitutions Direct sequencing Seyama K et al., 1998
20 Substitutions Genomic: g.11009C>T
CDS: c.556C>T
AnimoAcid: p.Gln186X		 Substitutions Direct sequencing Seyama K et al., 1998
21 Substitutions Genomic: g.11114C>T
CDS: c.661C>T
AnimoAcid: p.Gln221X		 Substitutions Direct sequencing Seyama K et al., 1998
22 Substitutions Genomic: g.103C>T
CDS: c.31C>T
AnimoAcid: p.Arg11X		 Substitutions Direct sequencing Blaeser F et al., 2005
23 Substitutions Genomic: g.6230G>T
CDS: c.322G>T
AnimoAcid: p.Glu108X		 Substitutions Direct sequencing Prasad ML et al., 2005
24 Substitutions Genomic: g.6256T>C
CDS: c.346+2T>C
AnimoAcid: 		Substitutions Direct sequencing Prasad ML et al., 2005
25 Substitutions Genomic: g.8201C>A
CDS: c.368C>A
AnimoAcid: p.Ala123Glu		 Substitutions Direct sequencing Prasad ML et al., 2005
26 Substitutions Genomic: g.8243G>A
CDS: c.409+1G>A
AnimoAcid: 		Substitutions Direct sequencing Prasad ML et al., 2005
27 Substitutions Genomic: g.10873G>T
CDS: c.420G>T
AnimoAcid: p.Trp140Cys		 Substitutions Direct sequencing Prasad ML et al., 2005
28 Substitutions Genomic: g.10884G>A
CDS: c.431G>A
AnimoAcid: p.Gly144Glu		 Substitutions Direct sequencing Prasad ML et al., 2005
29 Substitutions Genomic: g.10917T>C
CDS: c.464T>C
AnimoAcid: p.Leu155Pro		 Substitutions Direct sequencing Prasad ML et al., 2005
30 Substitutions Genomic: g.10952G>T
CDS: c.499G>T
AnimoAcid: p.Gly167X		 Substitutions Direct sequencing Prasad ML et al., 2005
31 Substitutions Genomic: g.10974A>G
CDS: c.521A>G
AnimoAcid: p.Gln174Arg		 Substitutions Direct sequencing Prasad ML et al., 2005
32 Substitutions Genomic: g.11107C>A
CDS: c.654C>A
AnimoAcid: p.Cys218X		 Substitutions Direct sequencing Prasad ML et al., 2005
33 Substitutions Genomic: g.103C>T
CDS: c.31C>T
AnimoAcid: p.Arg11X		 Substitutions Direct sequencing Lee WI et al., 2005
34 Substitutions Genomic: g.150T>G
CDS: c.78T>G
AnimoAcid: p.Tyr26X		 Substitutions Direct sequencing Lee WI et al., 2005
35 Substitutions Genomic: g.179T>G
CDS: c.107T>G
AnimoAcid: p.Met36Arg		 Substitutions Direct sequencing Lee WI et al., 2005
36 Substitutions Genomic: g.226A>T
CDS: c.154A>T
AnimoAcid: p.Lys52X		 Substitutions Direct sequencing Lee WI et al., 2005
37 Substitutions Genomic: g.229G>A
CDS: c.156+1G>A
AnimoAcid: 		Substitutions Direct sequencing Lee WI et al., 2005
38 Substitutions Genomic: g.2099G>T
CDS: c.166G>T
AnimoAcid: p.Glu56X		 Substitutions Direct sequencing Lee WI et al., 2005
39 Substitutions Genomic: g.2141C>T
CDS: c.208C>T
AnimoAcid: p.Gln70X		 Substitutions Direct sequencing Lee WI et al., 2005
40 Substitutions Genomic: g.11156G>C
CDS: c.703G>C
AnimoAcid: p.Ala235Pro		 Substitutions Direct sequencing Aruffo A et al., 1993
41 Substitutions Genomic: g.229G>T
CDS: c.156+1G>T
AnimoAcid: 		Substitutions Direct sequencing Lee WI et al., 2005
42 Substitutions Genomic: g.8217T>A
CDS: c.384T>A
AnimoAcid: p.Ser128Arg		 Substitutions Direct sequencing Aruffo A et al., 1993
43 Substitutions Genomic: g.8219A>G
CDS: c.386A>G
AnimoAcid: p.Glu129Gly		 Substitutions Direct sequencing Aruffo A et al., 1993
44 Substitutions Genomic: g.2222G>A
CDS: c.288+1G>A
AnimoAcid: p.Ile157_Gly288del		 Substitutions Direct sequencing Lee WI et al., 2005
45 Substitutions Genomic: g.2223T>A
CDS: c.288+2T>A
AnimoAcid: p.Ile157_Gly288del		 Substitutions Direct sequencing Lee WI et al., 2005
46 Deletion Genomic: g.2085_2093delAATAGATAG
CDS: c.157-5_160delAATAGATAG
AnimoAcid: 		Deletion Direct sequencing Lee WI et al., 2005
47 Deletion Genomic: g.2086_2093delATAGATAG
CDS: c.157-4_160delATAGATAG
AnimoAcid: 		Deletion Direct sequencing Lee WI et al., 2005
48 Deletion Genomic: g.2090_2093delATAG
CDS: c.157_160delATAG
AnimoAcid: p.Ile53fs		 Deletion Direct sequencing Lee WI et al., 2005
49 Substitutions Genomic: g.10871T>C
CDS: c.418T>C
AnimoAcid: p.Trp140Arg		 Substitutions Direct sequencing Jo EK et al., 2002
50 Substitutions Genomic: g.2221G>C
CDS: c.288G>C
AnimoAcid: p.Lys96Asn		 Substitutions Direct sequencing Lee WI et al., 2005
51 Deletion Genomic: g.2141_2142delCA
CDS: c.208_209delCA
AnimoAcid: p.Gln70fs		 Deletion Direct sequencing Lee WI et al., 2005
52 Deletion Genomic: g.6251_6254delAAAG
CDS: c.343_346delAAAG
AnimoAcid: p.Lys115fs		 Deletion Direct sequencing Lee WI et al., 2005
53 Substitutions Genomic: g.6254G>C
CDS: c.346G>C
AnimoAcid: p.Lys96AsnfsX12		 Substitutions Direct sequencing Lee WI et al., 2005
54 Substitutions Genomic: g.6255G>A
CDS: c.346+1G>A
AnimoAcid: p.Gly116ValfsX12		 Substitutions Direct sequencing Lee WI et al., 2005
55 Deletion Genomic: g.6255delG
CDS: c.346+1delG
AnimoAcid: p.Gly116ValfsX12		 Deletion Direct sequencing Lee WI et al., 2005
56 Substitutions Genomic: g.10958T>G
CDS: c.505T>G
AnimoAcid: p.Tyr169Asn		 Substitutions Direct sequencing Lee WI et al., 2005
57 Substitutions Genomic: g.10868C>T
CDS: c.415C>T
AnimoAcid: p.Gln139X		 Substitutions Direct sequencing Lee WI et al., 2005
58 Substitutions Genomic: g.6256T>C
CDS: c.346+2T>C
AnimoAcid: p.Gly116ValfsX12		 Substitutions Direct sequencing Lee WI et al., 2005
59 Substitutions Genomic: g.6259G>C
CDS: c.346+5G>C
AnimoAcid: p.Gly116ValfsX12		 Substitutions Direct sequencing Lee WI et al., 2005
60 Substitutions Genomic: g.10872G>A
CDS: c.419G>A
AnimoAcid: p.Trp140X		 Substitutions Direct sequencing Saiki O et al., 1995
61 Substitutions Genomic: g.11163T>A
CDS: c.710T>A
AnimoAcid: p.Val237Glu		 Substitutions Direct sequencing Saiki O et al., 1995
62 Deletion Genomic: g.11089_11090delCA
CDS: c.636_637delCA
AnimoAcid: p.His212_Ser213del		 Deletion Direct sequencing Saiki O et al., 1995
63 Substitutions Genomic: g.5340A>T
CDS: c.347-915A>T
AnimoAcid: 		Substitutions Direct sequencing Lee WI et al., 2005
64 Substitutions Genomic: g.8179G>A
CDS: c.347-1G>A
AnimoAcid: p.Gly116_Val137del		 Substitutions Direct sequencing Lee WI et al., 2005
65 Substitutions Genomic: g.8179G>C
CDS: c.347-1G>C
AnimoAcid: p.Gly116_Val137del		 Substitutions Direct sequencing Lee WI et al., 2005
66 Substitutions Genomic: g.8217T>A
CDS: c.384T>A
AnimoAcid: p.Ser128Arg		 Substitutions Direct sequencing Lee WI et al., 2005
67 Substitutions Genomic: g.8219A>G
CDS: c.386A>G
AnimoAcid: p.Glu129Gly		 Substitutions Direct sequencing Lee WI et al., 2005
68 Substitutions Genomic: g.8243G>C
CDS: c.409+1G>C
AnimoAcid: p.Gly116_Val137del		 Substitutions Direct sequencing Lee WI et al., 2005
69 Substitutions Genomic: g.10872G>A
CDS: c.419G>A
AnimoAcid: p.Trp140X		 Substitutions Direct sequencing Lee WI et al., 2005
70 Substitutions Genomic: g.10888C>A
CDS: c.435C>A
AnimoAcid: p.Tyr145X		 Substitutions Direct sequencing Lee WI et al., 2005
71 Substitutions Genomic: g.10893C>A
CDS: c.440C>A
AnimoAcid: p.Thr147Asn		 Substitutions Direct sequencing Lee WI et al., 2005
72 Substitutions Genomic: g.10949C>T
CDS: c.496C>T
AnimoAcid: p.Gln166X		 Substitutions Direct sequencing Lee WI et al., 2005
73 Substitutions Genomic: g.10973C>T
CDS: c.520C>T
AnimoAcid: p.Gln174X		 Substitutions Direct sequencing Lee WI et al., 2005
74 Substitutions Genomic: g.11051A>T
CDS: c.598A>T
AnimoAcid: p.Arg200X		 Substitutions Direct sequencing Lee WI et al., 2005
75 Substitutions Genomic: g.11009C>T
CDS: c.556C>T
AnimoAcid: p.Gln186X		 Substitutions Direct sequencing Lee WI et al., 2005
76 Substitutions Genomic: g.10958T>A
CDS: c.505T>A
AnimoAcid: p.Tyr169Asn		 Substitutions Direct sequencing Lin SC et al., 2005
77 Deletion Genomic: g.10964_10966delATC
CDS: c.511_513delATC
AnimoAcid: p.Ile171del		 Deletion SSCP Andrews FJ et al., 1996
78 Substitutions Genomic: g.11061G>T
CDS: c.608G>T
AnimoAcid: p.Arg203Ile		 Substitutions Direct sequencing Lee WI et al., 2005
79 Substitutions Genomic: g.11107C>A
CDS: c.654C>A
AnimoAcid: p.Cys218X		 Substitutions Direct sequencing Lee WI et al., 2005
80 Substitutions Genomic: g.11111C>T
CDS: c.658C>T
AnimoAcid: p.Gln220X		 Substitutions Direct sequencing Lee WI et al., 2005
81 Substitutions Genomic: g.11114C>T
CDS: c.661C>T
AnimoAcid: p.Gln221X		 Substitutions Direct sequencing Lee WI et al., 2005
82 Substitutions Genomic: g.11133G>T
CDS: c.680G>T
AnimoAcid: p.Gly227Val		 Substitutions Direct sequencing Lee WI et al., 2005
83 Substitutions Genomic: g.11146G>T
CDS: c.693G>T
AnimoAcid: p.Leu231Ser		 Substitutions Direct sequencing Lee WI et al., 2005
84 Substitutions Genomic: g.11156G>C
CDS: c.703G>C
AnimoAcid: p.Ala235Pro		 Substitutions Direct sequencing Lee WI et al., 2005
85 Substitutions Genomic: g.11214C>T
CDS: c.761C>T
AnimoAcid: p.Thr254Met		 Substitutions Direct sequencing Lee WI et al., 2005
86 Substitutions Genomic: g.11226T>C
CDS: c.773T>C
AnimoAcid: p.Leu258Ser		 Substitutions Direct sequencing Lee WI et al., 2005
87 Substitutions Genomic: g.6259G>T
CDS: c.346+5G>T
AnimoAcid: p.Gly116ValfsX12		 Substitutions SSCP Lopez-Granados E et al., 2003
88 Deletion Genomic: g.10862delG
CDS: c.410-1delG
AnimoAcid: 		Deletion Direct sequencing Lee WI et al., 2005
89 Deletion Genomic: g.10877_10882delGAAAAA
CDS: c.424_429delGAAAAA
AnimoAcid: p.Ala141fs		 Deletion Direct sequencing Lee WI et al., 2005
90 Deletion Genomic: g.10886_10888delTAC
CDS: c.433_435delTAC
AnimoAcid: p.Tyr145del		 Deletion Direct sequencing Lee WI et al., 2005
91 Deletion Genomic: g.10883delG
CDS: c.430delG
AnimoAcid: p.Lys143fs		 Deletion Direct sequencing Lee WI et al., 2005
92 Deletion Genomic: g.11042_11048delTCCCCCG
CDS: c.589_595delTCCCCCG
AnimoAcid: p.Lys196fs		 Deletion Direct sequencing Lee WI et al., 2005
93 Deletion Genomic: g.11152_11154delAGG
CDS: c.699_701delAGG
AnimoAcid: p.Pro233fs		 Deletion Direct sequencing Lee WI et al., 2005
94 Deletion Genomic: g.2090_2093delATAG
CDS: c.157_160delATAG
AnimoAcid: p.Ile53fs		 Deletion Direct sequencing Nonoyama S et al., 1997
95 Insertion Genomic: g.10862_10863ins9
CDS: c.410-1_410ins9
AnimoAcid: 		Insertion Direct sequencing Lee WI et al., 2005
96 Deletion Genomic: g.8242_8251del
CDS: c.409_418del
AnimoAcid: p.Val137fs		 Deletion Direct sequencing Weller S et al., 2001
97 Insertion Genomic: g.10862_10863ins12
CDS: c.410-1_410ins12
AnimoAcid: 		Insertion Direct sequencing Lee WI et al., 2005
98 Duplications Genomic: g.11026_11030dupCAGCC
CDS: c.573_577dupCAGCC
AnimoAcid: p.Leu193fs		 Duplications Direct sequencing Lee WI et al., 2005
99 Substitutions Genomic: g.179T>G
CDS: c.107T>G
AnimoAcid: p.Met36Arg		 Substitutions Direct sequencing Korthauer U et al., 1993
100 Substitutions Genomic: g.214A>T
CDS: c.142A>T
AnimoAcid: p.Arg48X		 Substitutions Direct sequencing Weller S et al., 2001
101 Substitutions Genomic: g.11160C>A
CDS: c.707C>A
AnimoAcid: p.Ser236X		 Substitutions Direct sequencing Weller S et al., 2001
102 Substitutions Genomic: g.10871T>G
CDS: c.418T>G
AnimoAcid: p.Trp140Gly		 Substitutions Direct sequencing Korthauer U et al., 1993
103 Substitutions Genomic: g.10872G>A
CDS: c.419G>A
AnimoAcid: p.Trp140X		 Substitutions Direct sequencing Korthauer U et al., 1993
104 Substitutions Genomic: g.179T>G
CDS: c.107T>G
AnimoAcid: p.Met36Arg		 Substitutions Direct sequencing Nonoyama S et al., 1997
105 Substitutions Genomic: g.10873G>T
CDS: c.420G>T
AnimoAcid: p.Trp140Cys		 Substitutions Direct sequencing Nonoyama S et al., 1997
106 Substitutions Genomic: g.11145T>C
CDS: c.692T>C
AnimoAcid: p.Leu231Ser		 Substitutions Direct sequencing Nonoyama S et al., 1997
107 Substitutions Genomic: g.11214C>T
CDS: c.761C>T
AnimoAcid: p.Thr254Met		 Substitutions Direct sequencing Nonoyama S et al., 1997
108 Substitutions Genomic: g.10872G>A
CDS: c.419G>A
AnimoAcid: p.Trp140X		 Substitutions Direct sequencing Nonoyama S et al., 1997
109 Substitutions Genomic: g.11004C>A
CDS: c.551C>A
AnimoAcid: p.Ser184X		 Substitutions Direct sequencing Nonoyama S et al., 1997
110 Substitutions Genomic: g.11107C>A
CDS: c.654C>A
AnimoAcid: p.Cys218X		 Substitutions Direct sequencing Nonoyama S et al., 1997
111 Deletion Genomic: g.11089_11090delCA
CDS: c.636_637delCA
AnimoAcid: p.His212fs		 Deletion Direct sequencing Nonoyama S et al., 1997
112 Deletion Genomic: g.11132_11134delGGA
CDS: c.679_681delGGA
AnimoAcid: p.Gly227fs		 Deletion Direct sequencing Nonoyama S et al., 1997
113 Deletion Genomic: g.2090_6217del
CDS: c.157_288del
AnimoAcid: p.Ile53fs		 Deletion Direct sequencing Nonoyama S et al., 1997
114 Deletion Genomic: g.8180_10862del
CDS: c.347_409del
AnimoAcid: p.Gly116fs		 Deletion Direct sequencing Nonoyama S et al., 1997
115 Deletion Genomic: g.10873_10880del8
CDS: c.420_427del8
AnimoAcid: p.Leu138fs		 Deletion Direct sequencing Nonoyama S et al., 1997
116 Substitutions Genomic: g.184G>C
CDS: c.112G>C
AnimoAcid: p.Gly38Arg		 Substitutions Direct sequencing, SSCP Katz F et al., 1996
117 Substitutions Genomic: g.2159G>T
CDS: c.226G>T
AnimoAcid: p.Glu76X		 Substitutions Direct sequencing, SSCP Katz F et al., 1996
118 Deletion Genomic: g.2204_2210delTTTGAAG
CDS: c.271_277delTTTGAAG
AnimoAcid: p.Phe91fs		 Deletion Direct sequencing, SSCP Katz F et al., 1996
119 Deletion Genomic: g.6253_6259delAGGTGAT
CDS: c.345_351delAGGTGAT
AnimoAcid: p.Lys115fs		 Deletion Direct sequencing, SSCP Katz F et al., 1996
120 Substitutions Genomic: g.8207A>G
CDS: c.374A>G
AnimoAcid: p.His125Arg		 Substitutions Direct sequencing, SSCP Katz F et al., 1996
121 Deletion-Insertion Genomic: g.10897_10901delinsC
CDS: c.444_448delinsC
AnimoAcid: p.Met148fs		 Deletion-Insertion Direct sequencing, SSCP Katz F et al., 1996
122 Deletion Genomic: g.10964_10966delATC
CDS: c.511_513delATC
AnimoAcid: p.Ile171fs		 Deletion Direct sequencing, SSCP Katz F et al., 1996
123 Substitutions Genomic: g.10974A>G
CDS: c.521A>G
AnimoAcid: p.Gln174Arg		 Substitutions Direct sequencing, SSCP Katz F et al., 1996
124 Substitutions Genomic: g.11214C>T
CDS: c.761C>T
AnimoAcid: p.Thr254Met		 Substitutions Direct sequencing, SSCP Katz F et al., 1996
125 Substitutions Genomic: g.11222G>A
CDS: c.769G>A
AnimoAcid: p.Gly257Ser		 Substitutions Direct sequencing, SSCP Katz F et al., 1996
126 Deletion Genomic: g.6203delA
CDS: c.295delA
AnimoAcid: p.Met99fs		 Deletion Direct sequencing, SSCP Katz F et al., 1996
127 Deletion Genomic: g.8202delG
CDS: c.369delG
AnimoAcid: p.Val126fs		 Deletion Direct sequencing, SSCP Katz F et al., 1996
128 Substitutions Genomic: g.10871T>C
CDS: c.418T>C
AnimoAcid: p.Trp140Arg		 Substitutions Direct sequencing, PCR based assay Macchi P et al., 1995
129 Substitutions Genomic: g.10884G>A
CDS: c.431G>A
AnimoAcid: p.Gly144Glu		 Substitutions Direct sequencing, PCR based assay Macchi P et al., 1995
130 Substitutions Genomic: g.8210T>C
CDS: c.377T>C
AnimoAcid: p.Val126Ala		 Substitutions Direct sequencing, PCR based assay Macchi P et al., 1995
131 Substitutions Genomic: g.10873G>A
CDS: c.420G>A
AnimoAcid: p.Trp140X		 Substitutions Direct sequencing, PCR based assay Macchi P et al., 1995
132 Substitutions Genomic: g.188C>G
CDS: c.116C>G
AnimoAcid: p.Ser39X		 Substitutions Direct sequencing, PCR based assay Macchi P et al., 1995
133 Deletion Genomic: g.2090_2093delATAG
CDS: c.157_160delATAG
AnimoAcid: p.Ile53fs		 Deletion Direct sequencing, PCR based assay Macchi P et al., 1995
134 Insertion Genomic: g.11034_11035insCT
CDS: c.581_582insCT
AnimoAcid: p.Cys194fs		 Insertion Direct sequencing, PCR based assay Macchi P et al., 1995
135 Insertion Genomic: g.8216insA
CDS: c.383insA
AnimoAcid: p.Ser128fs		 Insertion Direct sequencing, PCR based assay Macchi P et al., 1995
136 Insertion Genomic: g.11140_11143insATTT
CDS: c.687_690insATTT
AnimoAcid: p.Glu230fs		 Insertion Direct sequencing, PCR based assay Macchi P et al., 1995
137 Deletion-Insertion Genomic: g.10897_10901delinsC
CDS: c.444_448delinsC
AnimoAcid: p.Met148fs		 Deletion-Insertion Direct sequencing, SSCP Gilmour KC et al., 2003
138 Substitutions Genomic: g.10871T>G
CDS: c.418T>G
AnimoAcid: p.Trp140Gly		 Substitutions Direct sequencing, SSCP Gilmour KC et al., 2003
139 Substitutions Genomic: g.184G>C
CDS: c.112G>C
AnimoAcid: p.Gly38Arg		 Substitutions Direct sequencing, SSCP Gilmour KC et al., 2003
140 Insertion Genomic: g.6210_6211insA
CDS: c.302_303insA
AnimoAcid: p.Asn101fs		 Insertion Direct sequencing, SSCP Gilmour KC et al., 2003
141 Substitutions Genomic: g.6255G>T
CDS: c.346+1G>T
AnimoAcid: 		Substitutions Direct sequencing Gilmour KC et al., 2003
142 Substitutions Genomic: g.5340A>T
CDS: c.347-915A>T
AnimoAcid: 		Substitutions Direct sequencing Gilmour KC et al., 2003
143 Deletion Genomic: g.2091_2094delTAGA
CDS: c.158_161delTAGA
AnimoAcid: p.Ile53fs		 Deletion Direct sequencing, SSCP Gilmour KC et al., 2003
144 Deletion Genomic: g.10992delA
CDS: c.539delA
AnimoAcid: p.Asn180fs		 Deletion Direct sequencing, SSCP Gilmour KC et al., 2003
145 Deletion Genomic: g.10961_10969del
CDS: c.508_516del
AnimoAcid: p.Tyr170fs		 Deletion Direct sequencing, SSCP Gilmour KC et al., 2003
146 Deletion Genomic: g.10974_10975delAA
CDS: c.521_522delAA
AnimoAcid: p.Gln174fs		 Deletion Direct sequencing, SSCP Gilmour KC et al., 2003
147 Substitutions Genomic: g.10974A>G
CDS: c.521A>G
AnimoAcid: p.Gln174Arg		 Substitutions Direct sequencing, SSCP Gilmour KC et al., 2003
148 Substitutions Genomic: g.11214C>T
CDS: c.761C>T
AnimoAcid: p.Thr254Met		 Substitutions Direct sequencing, SSCP Gilmour KC et al., 2003
149 Insertion Genomic: g.2175_2176insT
CDS: c.242_243insT
AnimoAcid: p.Leu81fs		 Insertion Direct sequencing, SSCP Gilmour KC et al., 2003
150 Substitutions Genomic: g.11222G>A
CDS: c.769G>A
AnimoAcid: p.Gly257Ser		 Substitutions Direct sequencing, SSCP Gilmour KC et al., 2003
151 Deletion Genomic: g.10964_10965delAT
CDS: c.511_512delAT
AnimoAcid: p.Ile171fs		 Deletion Direct sequencing, SSCP Gilmour KC et al., 2003
152 Substitutions Genomic: g.10917T>C
CDS: c.464T>C
AnimoAcid: p.Leu155Pro		 Substitutions Direct sequencing, SSCP Gilmour KC et al., 2003
153 Substitutions Genomic: g.2149C>A
CDS: c.216C>A
AnimoAcid: p.Cys72X		 Substitutions Direct sequencing, PCR based assay, SSCP Lin Q et al., 1996
154 Substitutions Genomic: g.10917T>C
CDS: c.464T>C
AnimoAcid: p.Leu155Pro		 Substitutions Direct sequencing, PCR based assay, SSCP Lin Q et al., 1996
155 Substitutions Genomic: g.11051A>T
CDS: c.598A>T
AnimoAcid: p.Arg200X		 Substitutions Direct sequencing, PCR based assay, SSCP Lin Q et al., 1996
156 Substitutions Genomic: g.11114C>T
CDS: c.661C>T
AnimoAcid: p.Gln221X		 Substitutions Direct sequencing, PCR based assay, SSCP Lin Q et al., 1996
157 Substitutions Genomic: g.11133G>T
CDS: c.680G>T
AnimoAcid: p.Gly227Val		 Substitutions Direct sequencing, PCR based assay, SSCP Lin Q et al., 1996
158 Substitutions Genomic: g.11147C>T
CDS: c.694C>T
AnimoAcid: p.Gln232X		 Substitutions Direct sequencing, PCR based assay, SSCP Lin Q et al., 1996
159 Substitutions Genomic: g.229G>T
CDS: c.156+1G>T
AnimoAcid: 		Substitutions Direct sequencing Lin Q et al., 1996
160 Substitutions Genomic: g.2226G>A
CDS: c.288+5G>A
AnimoAcid: 		Substitutions Direct sequencing Lin Q et al., 1996
161 Insertion Genomic: g.8217insG
CDS: c.384insG
AnimoAcid: p.Ser128fs		 Insertion Direct sequencing Lin Q et al., 1996
162 Substitutions Genomic: g.8243G>C
CDS: c.409+1G>C
AnimoAcid: 		Substitutions Direct sequencing Lin Q et al., 1996
163 Deletion Genomic: c.346_408del
CDS: r.346_408del
AnimoAcid: p.Gly116_Ser136del		 Deletion Direct sequencing DiSanto JP et al., 1993
164 Deletion Genomic: g.10864_10871delGTTACAGT
CDS: c.411_418delGTTACAGT
AnimoAcid: p.Leu138fs		 Deletion Direct sequencing DiSanto JP et al., 1993
165 Deletion Genomic: c.409_418delGTGTTACAGT
CDS: r.409_418delguguuacagu
AnimoAcid: p.Val137fs		 Deletion Direct sequencing DiSanto JP et al., 1993
166 Substitutions Genomic: g.8201C>A
CDS: c.368C>A
AnimoAcid: p.Ala123Glu		 Substitutions Direct sequencing DiSanto JP et al., 1993
167 Substitutions Genomic: g.11214C>T
CDS: c.761C>T
AnimoAcid: p.Thr254Met		 Substitutions Fluorescent sequencing de Vries E et al., 1999
168 Substitutions Genomic: g.8243G>A
CDS: c.409+1G>A
AnimoAcid: 		Substitutions Dideoxy fingerprinting Villa A et al., 1994
169 Substitutions Genomic: g.10862A>G
CDS: c.410-1A>G
AnimoAcid: 		Substitutions Dideoxy fingerprinting Villa A et al., 1994
170 Deletion-Insertion Genomic: g.10862_10871delinsAA
CDS: c.410-1_418delinsAA
AnimoAcid: 		Deletion-Insertion Dideoxy fingerprinting Villa A et al., 1994
171 Substitutions Genomic: g.103C>T
CDS: c.31C>T
AnimoAcid: p.Arg11X		 Substitutions Fluorescent sequencing Danielian S et al., 2007
172 Substitutions Genomic: g.11214C>T
CDS: c.761C>T
AnimoAcid: p.Thr254Met		 Substitutions Fluorescent sequencing Danielian S et al., 2007
173 Substitutions Genomic: g.11107C>A
CDS: c.654C>A
AnimoAcid: p.Cys218X		 Substitutions Fluorescent sequencing Danielian S et al., 2007
174 Substitutions Genomic: g.11210T>A
CDS: c.757T>A
AnimoAcid: p.Phe253Ile		 Substitutions Fluorescent sequencing Danielian S et al., 2007
175 Substitutions Genomic: g.10917T>C
CDS: c.464T>C
AnimoAcid: p.Leu155Pro		 Substitutions Fluorescent sequencing Danielian S et al., 2007
176 Deletion Genomic: g.10897delG
CDS: c.444delG
AnimoAcid: p.Met148fs		 Deletion Fluorescent sequencing Danielian S et al., 2007
177 Deletion Genomic: g.2113_2129del
CDS: c.180_196del
AnimoAcid: p.Glu61fs		 Deletion Direct sequencing Rezaei N et al., 2008
178 Substitutions Genomic: g.10958T>A
CDS: c.505T>A
AnimoAcid: p.Tyr169Asn		 Substitutions Direct sequencing, PCR based assay Lin SC et al., 2006
179 Substitutions Genomic: g.6242G>T
CDS: c.334G>T
AnimoAcid: p.Glu112X		 Substitutions Dideoxy fingerprinting, PCR based assay Garcia-Perez MA et al., 2003
180 Substitutions Genomic: g.8179G>A
CDS: c.347-1G>A
AnimoAcid: 		Substitutions Dideoxy fingerprinting, PCR based assay Garcia-Perez MA et al., 2003
181 Deletion Genomic: c.289_346del
CDS: r.289_346del
AnimoAcid: p.Asp97ValfsX11		 Deletion Direct sequencing Pienaar S et al., 2003
182 Substitutions Genomic: g.2219A>T
CDS: c.286A>T
AnimoAcid: p.Lys96X		 Substitutions Direct sequencing Ma YC et al., 2005
183 Duplications Genomic: g.2122dupT
CDS: c.189dupT
AnimoAcid: p.Val64CysfsX21		 Duplications Direct sequencing Kraakman ME et al., 1995
184 Substitutions Genomic: g.11133G>T
CDS: c.680G>T
AnimoAcid: p.Gly227Val		 Substitutions Direct sequencing Allen RC et al., 1993
185 Substitutions Genomic: g.10917T>C
CDS: c.464T>C
AnimoAcid: p.Leu155Pro		 Substitutions Direct sequencing Allen RC et al., 1993
186 Substitutions Genomic: g.11085C>A
CDS: c.632C>A
AnimoAcid: p.Thr211Asn		 Substitutions Direct sequencing Allen RC et al., 1993
187 Substitutions Genomic: g.11111C>T
CDS: c.658C>T
AnimoAcid: p.Gln220X		 Substitutions PCR based assay, Restriction enzyme analysis Jayoussi-Assalia R et al., 2000
188 Substitutions Genomic: g.11147C>T
CDS: c.694C>T
AnimoAcid: p.Gln232X		 Substitutions Direct sequencing Erdos M et al., 2008
189 Substitutions Genomic: g.10935T>G
CDS: c.482T>G
AnimoAcid: p.Leu161Arg		 Substitutions Direct sequencing Erdos M et al., 2008
190 Duplications Genomic: g.2136dupC
CDS: c.203dupC
AnimoAcid: p.Ile69AspfsX16		 Duplications Direct sequencing Erdos M et al., 2008
191 Substitutions Genomic: g.11132G>T
CDS: c.679G>T
AnimoAcid: p.Gly227X		 Substitutions Direct sequencing, PCR based assay Rangel-Santos A et al., 2009
192 Deletion Genomic: g.2090_2093delATAG
CDS: c.157_160delATAG
AnimoAcid: p.Ile53fs		 Deletion Direct sequencing, PCR based assay Rangel-Santos A et al., 2009
193 Substitutions Genomic: g.8210T>A
CDS: c.377T>A
AnimoAcid: p.Val126Asp		 Substitutions Direct sequencing, PCR based assay Rangel-Santos A et al., 2009
194 Substitutions Genomic: g.11140T>A
CDS: c.687T>A
AnimoAcid: p.Phe229Leu		 Substitutions Direct sequencing, PCR based assay Rangel-Santos A et al., 2009
195 Substitutions Genomic: g.103C>T
CDS: c.31C>T
AnimoAcid: p.Arg11X		 Substitutions Direct sequencing, PCR based assay Yong PF et al., 2008
196 Insertion Genomic: g.136_137ins292
CDS: c.64_65ins292
AnimoAcid: p.Met25PhefsX60		 Insertion Direct sequencing Apoil PA et al., 2007
197 Substitutions Genomic: g.10872G>A
CDS: c.419G>A
AnimoAcid: p.Trp140X		 Substitutions Direct sequencing, SSCP Seyama K et al., 1996
198 Substitutions Genomic: g.230T>C
CDS: c.156+2T>C
AnimoAcid: 		Substitutions Direct sequencing Aghamohammadi A et al., 2009
199 Substitutions Genomic: g.11214C>T
CDS: c.761C>T
AnimoAcid: p.Thr254Met		 Substitutions Direct sequencing Aghamohammadi A et al., 2009
200 Substitutions Genomic: g.10952G>C
CDS: c.499G>C
AnimoAcid: p.Gly167Arg		 Substitutions Direct sequencing Aghamohammadi A et al., 2009
201 Substitutions Genomic: g.10935T>C
CDS: c.482T>C
AnimoAcid: p.Leu161Pro		 Substitutions Direct sequencing Aghamohammadi A et al., 2009
202 Deletion Genomic: g.155delT
CDS: c.83delT
AnimoAcid: p.Thr29LeufsX8		 Deletion Direct sequencing Aghamohammadi A et al., 2009
203 Deletion Genomic: g.2113_2129del17
CDS: c.180_196del17
AnimoAcid: p.Asp62Asnfs		 Deletion Direct sequencing Aghamohammadi A et al., 2009
204 Substitutions Genomic: g.11223G>T
CDS: c.770G>T
AnimoAcid: p.Gly257Val		 Substitutions PCR based assay Heinold A et al., 2010
205 Substitutions Genomic: c.-192A>C
CDS:
AnimoAcid: 		Substitutions Direct sequencing Van Hoeyveld E et al., 2007
206 Substitutions Genomic: g.8210T>G
CDS: c.377T>G
AnimoAcid: p.Val126Gly		 Substitutions Direct sequencing Cabral-Marques O et al., 2012
207 Substitutions Genomic: g.10873G>C
CDS: c.420G>C
AnimoAcid: p.Trp140Cys		 Substitutions Direct sequencing Cabral-Marques O et al., 2012
208 Substitutions Genomic: g.10893C>A
CDS: c.440C>A
AnimoAcid: p.Thr147Asn		 Substitutions Direct sequencing Cabral-Marques O et al., 2012
209 Substitutions Genomic: g.10872G>A
CDS: c.419G>A
AnimoAcid: p.Trp140X		 Substitutions Direct sequencing Cabral-Marques O et al., 2012
210 Deletion Genomic: g.2090_2093delATAG
CDS: c.157_160delATAG
AnimoAcid: p.Ile53LysfsX13		 Deletion Direct sequencing Cabral-Marques O et al., 2012
211 Deletion Genomic: g.6197_6254del57
CDS: c.289_346del57
AnimoAcid: 		Deletion Direct sequencing Cabral-Marques O et al., 2012
212 Insertion Genomic: g.10947_10948insAA
CDS: c.494_495insAA
AnimoAcid: p.Arg165LysfsX26		 Insertion Direct sequencing Cabral-Marques O et al., 2012
213 Substitutions Genomic: g.10873G>A
CDS: c.420G>A
AnimoAcid: p.Trp140X		 Substitutions NA Tsai HY et al., 2012
214 Substitutions Genomic: g.8247G>C
CDS: c.409+5G>C
AnimoAcid: 		Substitutions NA Tsai HY et al., 2012