SI.No | Mutation change | Expt Name | PubMed | ||
1 | Substitutions | Genomic: g.597G>A CDS: c.79G>A AnimoAcid: p.Ala27Thr |
Substitutions | CSGE, Direct sequencing |
Thomas M et al., 2006 |
2 | Substitutions | Genomic: g.39A>G CDS: c.1A>G AnimoAcid: p.Met1? |
Substitutions | Direct sequencing |
Bellanne-Chantelot C et al., 2004 |
3 | Substitutions | Genomic: g.643C>T CDS: c.125C>T AnimoAcid: p.Pro42Leu |
Substitutions | Direct sequencing |
Bellanne-Chantelot C et al., 2004 |
4 | Substitutions | Genomic: g.647C>A CDS: c.129C>A AnimoAcid: p.Phe43Leu |
Substitutions | Direct sequencing |
Bellanne-Chantelot C et al., 2004 |
5 | Substitutions | Genomic: g.655C>T CDS: c.137C>T AnimoAcid: p.Ser46Phe |
Substitutions | Direct sequencing |
Bellanne-Chantelot C et al., 2004 |
6 | Substitutions | Genomic: g.658T>C CDS: c.140T>C AnimoAcid: p.Leu47Pro |
Substitutions | Direct sequencing |
Bellanne-Chantelot C et al., 2004 |
7 | Substitutions | Genomic: g.676A>T CDS: c.158A>T AnimoAcid: p.His53Leu |
Substitutions | Direct sequencing |
Bellanne-Chantelot C et al., 2004 |
8 | Substitutions | Genomic: g.989G>C CDS: c.242G>C AnimoAcid: p.Arg81Pro |
Substitutions | Direct sequencing |
Bellanne-Chantelot C et al., 2004 |
9 | Substitutions | Genomic: g.991G>A CDS: c.244G>A AnimoAcid: p.Val82Met |
Substitutions | Direct sequencing |
Bellanne-Chantelot C et al., 2004 |
10 | Substitutions | Genomic: g.998T>C CDS: c.251T>C AnimoAcid: p.Leu84Pro |
Substitutions | Direct sequencing |
Bellanne-Chantelot C et al., 2004 |
11 | Substitutions | Genomic: g.1109T>C CDS: c.362T>C AnimoAcid: p.Leu121Pro |
Substitutions | Direct sequencing |
Bellanne-Chantelot C et al., 2004 |
12 | Substitutions | Genomic: g.3286G>C CDS: c.379G>C AnimoAcid: p.Ala127Pro |
Substitutions | Direct sequencing |
Bellanne-Chantelot C et al., 2004 |
13 | Substitutions | Genomic: g.3362T>C CDS: c.455T>C AnimoAcid: p.Leu152Pro |
Substitutions | Direct sequencing |
Bellanne-Chantelot C et al., 2004 |
14 | Substitutions | Genomic: g.3284C>T CDS: c.377C>T AnimoAcid: p.Ser126Leu |
Substitutions | Direct sequencing |
Bellanne-Chantelot C et al., 2004 |
15 | Substitutions | Genomic: g.3323C>T CDS: c.416C>T AnimoAcid: p.Pro139Leu |
Substitutions | Direct sequencing |
Bellanne-Chantelot C et al., 2004 |
16 | Substitutions | Genomic: g.3505G>A CDS: c.597+1G>A AnimoAcid: |
Substitutions | Direct sequencing |
Bellanne-Chantelot C et al., 2004 |
17 | Substitutions | Genomic: g.3509G>A CDS: c.597+5G>A AnimoAcid: |
Substitutions | Direct sequencing |
Bellanne-Chantelot C et al., 2004 |
18 | Substitutions | Genomic: g.3710G>A CDS: c.640G>A AnimoAcid: p.Gly214Arg |
Substitutions | Direct sequencing |
Bellanne-Chantelot C et al., 2004 |
19 | Substitutions | Genomic: g.3725G>A CDS: c.655G>A AnimoAcid: p.Val219Ile |
Substitutions | Direct sequencing |
Bellanne-Chantelot C et al., 2004 |
20 | Substitutions | Genomic: g.3739C>A CDS: c.669C>A AnimoAcid: p.Cys223X |
Substitutions | Direct sequencing |
Bellanne-Chantelot C et al., 2004 |
21 | Deletion | Genomic: g.3758delG CDS: c.688delG AnimoAcid: p.Asp230fs |
Deletion | Direct sequencing |
Bellanne-Chantelot C et al., 2004 |
22 | Substitutions | Genomic: g.3855C>T CDS: c.785C>T AnimoAcid: p.Pro262Leu |
Substitutions | Direct sequencing |
Bellanne-Chantelot C et al., 2004 |
23 | Substitutions | Genomic: g.700C>T CDS: c.182C>T AnimoAcid: p.Ala61Val |
Substitutions | Direct sequencing |
Horwitz M et al., 1999 |
24 | Substitutions | Genomic: g.3688G>T CDS: c.618G>T AnimoAcid: p.Leu206Phe |
Substitutions | Direct sequencing |
Horwitz M et al., 1999 |
25 | Substitutions | Genomic: g.3729G>A CDS: c.659G>A AnimoAcid: p.Arg220Gln |
Substitutions | Direct sequencing |
Horwitz M et al., 1999 |
26 | Substitutions | Genomic: g.3505G>A CDS: c.597+1G>A AnimoAcid: |
Substitutions | Direct sequencing |
Horwitz M et al., 1999 |
27 | Substitutions | Genomic: g.3507A>T CDS: c.597+3A>T AnimoAcid: |
Substitutions | Direct sequencing |
Horwitz M et al., 1999 |
28 | Substitutions | Genomic: g.3509G>A CDS: c.597+5G>A AnimoAcid: |
Substitutions | Direct sequencing |
Horwitz M et al., 1999 |
29 | Substitutions | Genomic: g.687G>A CDS: c.169G>A AnimoAcid: p.Ala57Thr |
Substitutions | Direct sequencing, PCR based assay |
Dale DC et al., 2000 |
30 | Substitutions | Genomic: g.697T>C CDS: c.179T>C AnimoAcid: p.Ile60Thr |
Substitutions | Direct sequencing, PCR based assay |
Dale DC et al., 2000 |
31 | Substitutions | Genomic: g.729T>A CDS: c.211T>A AnimoAcid: p.Cys71Ser |
Substitutions | Direct sequencing, PCR based assay |
Dale DC et al., 2000 |
32 | Substitutions | Genomic: g.1048G>A CDS: c.301G>A AnimoAcid: p.Val101Met |
Substitutions | Direct sequencing, PCR based assay |
Dale DC et al., 2000 |
33 | Substitutions | Genomic: g.3284C>T CDS: c.377C>T AnimoAcid: p.Ser126Leu |
Substitutions | Direct sequencing, PCR based assay |
Dale DC et al., 2000 |
34 | Substitutions | Genomic: g.3323C>T CDS: c.416C>T AnimoAcid: p.Pro139Leu |
Substitutions | Direct sequencing, PCR based assay |
Dale DC et al., 2000 |
35 | Substitutions | Genomic: g.3710G>A CDS: c.640G>A AnimoAcid: p.Gly214Arg |
Substitutions | Direct sequencing, PCR based assay |
Dale DC et al., 2000 |
36 | Substitutions | Genomic: g.3699G>T CDS: c.629G>T AnimoAcid: p.Gly210Val |
Substitutions | Direct sequencing, PCR based assay |
Dale DC et al., 2000 |
37 | Substitutions | Genomic: g.3744C>A CDS: c.674C>A AnimoAcid: p.Ser225X |
Substitutions | Direct sequencing, PCR based assay |
Dale DC et al., 2000 |
38 | Substitutions | Genomic: g.3731G>T CDS: c.661G>T AnimoAcid: p.Gly221X |
Substitutions | Direct sequencing, PCR based assay |
Dale DC et al., 2000 |
39 | Substitutions | Genomic: g.3754C>A CDS: c.684C>A AnimoAcid: p.Tyr228X |
Substitutions | Direct sequencing, PCR based assay |
Dale DC et al., 2000 |
40 | Substitutions | Genomic: g.3509G>A CDS: c.597+5G>A AnimoAcid: |
Substitutions | Direct sequencing, PCR based assay |
Dale DC et al., 2000 |
41 | Substitutions | Genomic: g.3266C>A CDS: c.367-8C>A AnimoAcid: |
Substitutions | Direct sequencing, PCR based assay |
Dale DC et al., 2000 |
42 | Deletion | Genomic: g.3427_3450del CDS: c.520_543del AnimoAcid: p.Val174_Cys181del |
Deletion | Direct sequencing, PCR based assay |
Dale DC et al., 2000 |
43 | Substitutions | Genomic: g.3505G>A CDS: c.597+1G>A AnimoAcid: |
Substitutions | Direct sequencing, PCR based assay |
Dale DC et al., 2000 |
44 | Substitutions | Genomic: g.3739C>A CDS: c.669C>A AnimoAcid: p.Cys223X |
Substitutions | Fluorescent sequencing |
Ishikawa N et al., 2008 |
45 | Substitutions | Genomic: g.3767G>C CDS: c.697G>C AnimoAcid: p.Ala233Pro |
Substitutions | Fluorescent sequencing |
Ishikawa N et al., 2008 |
46 | Substitutions | Genomic: g.3284C>T CDS: c.377C>T AnimoAcid: p.Ser126Leu |
Substitutions | Fluorescent sequencing |
Ishikawa N et al., 2008 |
47 | Substitutions | Genomic: g.989G>C CDS: c.242G>C AnimoAcid: p.Arg81Pro |
Substitutions | Fluorescent sequencing |
Ishikawa N et al., 2008 |
48 | Substitutions | Genomic: g.700C>T CDS: c.182C>T AnimoAcid: p.Ala61Val |
Substitutions | Fluorescent sequencing |
Ishikawa N et al., 2008 |
49 | Substitutions | Genomic: g.3710G>A CDS: c.640G>A AnimoAcid: p.Gly214Arg |
Substitutions | Fluorescent sequencing |
Ishikawa N et al., 2008 |
50 | Substitutions | Genomic: g.1048G>A CDS: c.301G>A AnimoAcid: p.Val101Met |
Substitutions | Fluorescent sequencing |
Ishikawa N et al., 2008 |
51 | Substitutions | Genomic: g.1001G>A CDS: c.254G>A AnimoAcid: p.Gly85Glu |
Substitutions | Fluorescent sequencing |
Ishikawa N et al., 2008 |
52 | Substitutions | Genomic: g.3678G>A CDS: c.608G>A AnimoAcid: p.Gly203Asp |
Substitutions | Fluorescent sequencing |
Ishikawa N et al., 2008 |
53 | Deletion | Genomic: g.3287_3289delCCA CDS: c.380_382delCCA AnimoAcid: p.Thr128del |
Deletion | Fluorescent sequencing |
Ishikawa N et al., 2008 |
54 | Substitutions | Genomic: g.3505G>A CDS: c.597+1G>A AnimoAcid: |
Substitutions | Direct sequencing, Restriction enzyme analysis |
Ancliff PJ et al., 2001 |
55 | Substitutions | Genomic: g.682G>A CDS: c.164G>A AnimoAcid: p.Cys55Tyr |
Substitutions | Direct sequencing, Restriction enzyme analysis |
Ancliff PJ et al., 2001 |
56 | Substitutions | Genomic: g.1001G>A CDS: c.254G>A AnimoAcid: p.Gly85Glu |
Substitutions | Direct sequencing, Restriction enzyme analysis |
Ancliff PJ et al., 2001 |
57 | Substitutions | Genomic: g.3266C>A CDS: c.367-8C>A AnimoAcid: |
Substitutions | Direct sequencing, Restriction enzyme analysis |
Ancliff PJ et al., 2001 |
58 | Substitutions | Genomic: g.3284C>T CDS: c.377C>T AnimoAcid: p.Ser126Leu |
Substitutions | Direct sequencing, Restriction enzyme analysis |
Ancliff PJ et al., 2001 |
59 | Substitutions | Genomic: g.3358T>A CDS: c.451T>A AnimoAcid: p.Cys151Ser |
Substitutions | Direct sequencing, Restriction enzyme analysis |
Ancliff PJ et al., 2001 |
60 | Substitutions | Genomic: g.3684C>G CDS: c.614C>G AnimoAcid: p.Pro205Arg |
Substitutions | Direct sequencing, Restriction enzyme analysis |
Ancliff PJ et al., 2001 |
61 | Substitutions | Genomic: g.3840C>T CDS: c.770C>T AnimoAcid: p.Pro257Leu |
Substitutions | Direct sequencing, Restriction enzyme analysis |
Ancliff PJ et al., 2001 |
62 | Substitutions | Genomic: g.3359G>A CDS: c.452G>A AnimoAcid: p.Cys151Tyr |
Substitutions | Direct sequencing, Restriction enzyme analysis |
Germeshausen M et al., 2001 |
63 | Substitutions | Genomic: g.729T>C CDS: c.211T>C AnimoAcid: p.Cys71Arg |
Substitutions | Fluorescent sequencing, PCR based assay, Restriction enzyme analysis |
Ancliff PJ et al., 2002 |
64 | Substitutions | Genomic: g.700C>T CDS: c.182C>T AnimoAcid: p.Ala61Val |
Substitutions | Direct sequencing, Restriction enzyme analysis |
Kawaguchi H et al., 2003 |
65 | Substitutions | Genomic: g.3284C>T CDS: c.377C>T AnimoAcid: p.Ser126Leu |
Substitutions | Direct sequencing, Restriction enzyme analysis |
Kawaguchi H et al., 2003 |
66 | Substitutions | Genomic: g.3323C>T CDS: c.416C>T AnimoAcid: p.Pro139Leu |
Substitutions | Direct sequencing |
Sera Y et al., 2005 |
67 | Substitutions | Genomic: g.3729G>A CDS: c.659G>A AnimoAcid: p.Arg220Gln |
Substitutions | Direct sequencing |
Sera Y et al., 2005 |
68 | Substitutions | Genomic: g.3739C>A CDS: c.669C>A AnimoAcid: p.Cys223X |
Substitutions | Direct sequencing |
Sera Y et al., 2005 |
69 | Substitutions | Genomic: g.3284C>T CDS: c.377C>T AnimoAcid: p.Ser126Leu |
Substitutions | Direct sequencing |
Sera Y et al., 2005 |
70 | Substitutions | Genomic: g.3712G>A CDS: c.642G>A AnimoAcid: p.Gly214Arg |
Substitutions | Direct sequencing |
Sera Y et al., 2005 |
71 | Substitutions | Genomic: g.3767G>C CDS: c.697G>C AnimoAcid: p.Ala233Pro |
Substitutions | Direct sequencing |
Sera Y et al., 2005 |
72 | Substitutions | Genomic: g.3710G>A CDS: c.640G>A AnimoAcid: p.Gly214Arg |
Substitutions | Direct sequencing |
Donini M et al., 2007 |
73 | Deletion | Genomic: g.3685delC CDS: c.615delC AnimoAcid: p.Leu206TrpfsX6 |
Deletion | Direct sequencing |
Donini M et al., 2007 |
74 | Deletion | Genomic: g.705_728delAACTTCGTCATGTCGGCCGCGCAC CDS: c.187_210delAACTTCGTCATGTCGGCCGCGCAC AnimoAcid: p.Asn63_His70del |
Deletion | Direct sequencing |
Donini M et al., 2007 |
75 | Substitutions | Genomic: g.3287C>A CDS: c.380C>A AnimoAcid: p.Ala127Asp |
Substitutions | Direct sequencing |
Donini M et al., 2007 |
76 | Substitutions | Genomic: g.3284C>T CDS: c.377C>T AnimoAcid: p.Ser126Leu |
Substitutions | Fluorescent sequencing, PCR based assay |
Boxer LA et al., 2006 |
77 | Substitutions | Genomic: g.991G>A CDS: c.244G>A AnimoAcid: p.Val82Met |
Substitutions | Direct sequencing |
Lanciotti M et al., 2009 |
78 | Substitutions | Genomic: g.1039G>A CDS: c.292G>A AnimoAcid: p.Val98Met |
Substitutions | Direct sequencing |
Lanciotti M et al., 2009 |
79 | Substitutions | Genomic: g.3505G>A CDS: c.597+1G>A AnimoAcid: p.Val190_Phe199del |
Substitutions | Direct sequencing |
Salipante SJ et al., 2007 |
80 | Substitutions | Genomic: g.3291C>T CDS: c.384C>T AnimoAcid: p.Thr128Ile |
Substitutions | Direct sequencing |
Salipante SJ et al., 2007 |
81 | Substitutions | Genomic: g.1039G>T CDS: c.292G>T AnimoAcid: p.Val98Leu |
Substitutions | Direct sequencing |
Salipante SJ et al., 2007 |
82 | Substitutions | Genomic: g.1048G>T CDS: c.301G>T AnimoAcid: p.Val101Leu |
Substitutions | Direct sequencing |
Salipante SJ et al., 2007 |
83 | Substitutions | Genomic: g.3323C>T CDS: c.416C>T AnimoAcid: p.Pro139Leu |
Substitutions | Direct sequencing |
Rosenberg PS et al., 2008 |
84 | Substitutions | Genomic: g.3284C>T CDS: c.377C>T AnimoAcid: p.Ser126Leu |
Substitutions | Direct sequencing |
Rosenberg PS et al., 2008 |
85 | Substitutions | Genomic: g.3710G>C CDS: c.640G>C AnimoAcid: p.Gly214Arg |
Substitutions | Direct sequencing |
Rosenberg PS et al., 2008 |
86 | Substitutions | Genomic: g.1048G>A CDS: c.301G>A AnimoAcid: p.Val101Met |
Substitutions | Direct sequencing |
Rosenberg PS et al., 2008 |
87 | Substitutions | Genomic: g.3677G>C CDS: c.607G>C AnimoAcid: p.Gly203Arg |
Substitutions | Direct sequencing |
Xia J et al., 2009 |
88 | Substitutions | Genomic: g.3698G>T CDS: c.628G>T AnimoAcid: p.Gly210Trp |
Substitutions | Direct sequencing |
Xia J et al., 2009 |
89 | Substitutions | Genomic: g.3731G>T CDS: c.661G>T AnimoAcid: p.Gly221X |
Substitutions | Direct sequencing |
Xia J et al., 2009 |
90 | Substitutions | Genomic: g.697T>C CDS: c.179T>C AnimoAcid: p.Ile60Thr |
Substitutions | Direct sequencing |
Xia J et al., 2009 |
91 | Substitutions | Genomic: g.3359G>C CDS: c.452G>C AnimoAcid: p.Cys151Ser |
Substitutions | Direct sequencing |
Xia J et al., 2009 |
92 | Deletion | Genomic: g.3671delG CDS: c.601delG AnimoAcid: p.Asp201ThrfsX11 |
Deletion | Direct sequencing |
Xia J et al., 2009 |
93 | Substitutions | Genomic: g.1048G>A CDS: c.301G>A AnimoAcid: p.Val101Met |
Substitutions | Direct sequencing |
Xia J et al., 2009 |
94 | Substitutions | Genomic: g.3266C>A CDS: c.367-8C>A AnimoAcid: p.Gln122_Leu123insProGln |
Substitutions | Direct sequencing |
Xia J et al., 2009 |
95 | Substitutions | Genomic: g.712T>A CDS: c.194T>A AnimoAcid: p.Val65Asp |
Substitutions | Direct sequencing |
Xia J et al., 2009 |
96 | Substitutions | Genomic: g.3754C>A CDS: c.684C>A AnimoAcid: p.Tyr228X |
Substitutions | Direct sequencing |
Xia J et al., 2009 |
97 | Substitutions | Genomic: g.3284C>T CDS: c.377C>T AnimoAcid: p.Ser126Leu |
Substitutions | Direct sequencing |
Xia J et al., 2009 |
98 | Substitutions | Genomic: g.3739C>A CDS: c.669C>A AnimoAcid: p.Cys223X |
Substitutions | Direct sequencing |
Xia J et al., 2009 |
99 | Substitutions | Genomic: g.3710G>C CDS: c.640G>C AnimoAcid: p.Gly214Arg |
Substitutions | Direct sequencing |
Xia J et al., 2009 |
100 | Substitutions | Genomic: g.3694C>A CDS: c.624C>A AnimoAcid: p.Cys208X |
Substitutions | Direct sequencing |
Xia J et al., 2009 |
101 | Substitutions | Genomic: g.687G>A CDS: c.169G>A AnimoAcid: p.Ala57Thr |
Substitutions | Direct sequencing |
Xia J et al., 2009 |
102 | Deletion | Genomic: g.3287_3289delCCA CDS: c.380_382delCCA AnimoAcid: p.Thr128del |
Deletion | Direct sequencing |
Xia J et al., 2009 |
103 | Substitutions | Genomic: g.1055G>C CDS: c.308G>C AnimoAcid: p.Arg103Pro |
Substitutions | Direct sequencing |
Xia J et al., 2009 |
104 | Substitutions | Genomic: g.1055G>T CDS: c.308G>T AnimoAcid: p.Arg103Leu |
Substitutions | Direct sequencing |
Xia J et al., 2009 |
105 | Substitutions | Genomic: g.3359G>A CDS: c.452G>A AnimoAcid: p.Cys151Tyr |
Substitutions | Direct sequencing |
Xia J et al., 2009 |
106 | Deletion | Genomic: g.3757delC CDS: c.687delC AnimoAcid: p.Asp230MetfsX10 |
Deletion | Direct sequencing |
Xia J et al., 2009 |
107 | Substitutions | Genomic: g.715T>G CDS: c.197T>G AnimoAcid: p.Met66Arg |
Substitutions | Direct sequencing |
Xia J et al., 2009 |
108 | Substitutions | Genomic: g.698T>G CDS: c.180T>G AnimoAcid: p.Ile60Met |
Substitutions | Direct sequencing |
Xia J et al., 2009 |
109 | Substitutions | Genomic: g.700C>G CDS: c.182C>G AnimoAcid: p.Ala61Gly |
Substitutions | Direct sequencing |
Xia J et al., 2009 |
110 | Substitutions | Genomic: g.643C>T CDS: c.125C>T AnimoAcid: p.Pro42Leu |
Substitutions | Direct sequencing |
Shiohara M et al., 2009 |
111 | Substitutions | Genomic: g.989G>C CDS: c.242G>C AnimoAcid: p.Arg81Pro |
Substitutions | Direct sequencing |
Shiohara M et al., 2009 |
112 | Substitutions | Genomic: g.1048G>A CDS: c.301G>A AnimoAcid: p.Val101Met |
Substitutions | Direct sequencing |
Shiohara M et al., 2009 |
113 | Substitutions | Genomic: g.3284C>T CDS: c.377C>T AnimoAcid: p.Ser126Leu |
Substitutions | Direct sequencing |
Shiohara M et al., 2009 |
114 | Substitutions | Genomic: g.3323C>T CDS: c.416C>T AnimoAcid: p.Pro139Leu |
Substitutions | Direct sequencing |
Shiohara M et al., 2009 |
115 | Substitutions | Genomic: g.3793T>A CDS: c.723T>A AnimoAcid: p.Trp241X |
Substitutions | Direct sequencing |
Shiohara M et al., 2009 |
116 | Substitutions | Genomic: g.687G>T CDS: c.169G>T AnimoAcid: p.Ala57Ser |
Substitutions | Direct sequencing |
van de Vosse E et al., 2011 |
117 | Substitutions | Genomic: g.3677G>C CDS: c.607G>C AnimoAcid: p.Gly203Arg |
Substitutions | Direct sequencing |
Shim YJ et al., 2011 |
118 | Substitutions | Genomic: g.3739C>A CDS: c.669C>A AnimoAcid: p.Cys223X |
Substitutions | Direct sequencing |
Lee WI et al., 2012 |
119 | Substitutions | Genomic: g.3416A>C CDS: c.509A>C AnimoAcid: p.Gln170Pro |
Substitutions | Direct sequencing |
Lee WI et al., 2012 |
120 | Substitutions | Genomic: g.3283T>C CDS: c.376T>C AnimoAcid: p.Ser126Pro |
Substitutions | Direct sequencing |
Lee WI et al., 2012 |