SI.No | Mutation change | Expt Name | PubMed | ||
1 | Duplications | Genomic: g.22125dupC CDS: c.1167dupC AnimoAcid: p.Glu390fs |
Duplications | Fluorescent sequencing |
Lee WI et al., 2005 |
2 | Substitutions | Genomic: g.22207T>C CDS: c.1249T>C AnimoAcid: p.Cys417Arg |
Substitutions | Direct sequencing, PCR based assay |
Zonana J et al., 2000 |
3 | Substitutions | Genomic: g.22129G>T CDS: c.1171G>T AnimoAcid: p.Glu391X |
Substitutions | Direct sequencing, PCR based assay |
Zonana J et al., 2000 |
4 | Substitutions | Genomic: g.22208G>T CDS: c.1250G>T AnimoAcid: p.Cys417Phe |
Substitutions | Direct sequencing, PCR based assay |
Zonana J et al., 2000 |
5 | Insertion | Genomic: g.22125_22126insC CDS: c.1167_1168insC AnimoAcid: p.Glu390fs |
Insertion | Direct sequencing, PCR based assay |
Zonana J et al., 2000 |
6 | Substitutions | Genomic: g.22207T>C CDS: c.1249T>C AnimoAcid: p.Cys417Arg |
Substitutions | Direct sequencing |
Jain A et al., 2001 |
7 | Substitutions | Genomic: g.22175A>T CDS: c.1217A>T AnimoAcid: p.Asp406Val |
Substitutions | Direct sequencing |
Jain A et al., 2001 |
8 | Insertion | Genomic: g.22125_22126insC CDS: c.1167_1168insC AnimoAcid: p.Glu390fs |
Insertion | Direct sequencing, PCR based assay |
Doffinger R et al., 2001 |
9 | Substitutions | Genomic: g.22217A>G CDS: c.1259A>G AnimoAcid: p.X420Trp |
Substitutions | Direct sequencing, PCR based assay |
Doffinger R et al., 2001 |
10 | Substitutions | Genomic: g.21334G>A CDS: c.931G>A AnimoAcid: p.Asp311Asn |
Substitutions | Direct sequencing, PCR based assay |
Doffinger R et al., 2001 |
11 | Insertion | Genomic: g.22176_22177insA CDS: c.1218_1219insA AnimoAcid: p.Met407fs |
Insertion | Direct sequencing, PCR based assay |
Doffinger R et al., 2001 |
12 | Substitutions | Genomic: g.18169G>C CDS: c.524G>C AnimoAcid: p.Arg175Pro |
Substitutions | Direct sequencing, PCR based assay |
Doffinger R et al., 2001 |
13 | Substitutions | Genomic: g.19453T>C CDS: c.680T>C AnimoAcid: p.Leu227Pro |
Substitutions | Direct sequencing, PCR based assay |
Doffinger R et al., 2001 |
14 | Substitutions | Genomic: g.22207T>C CDS: c.1249T>C AnimoAcid: p.Cys417Arg |
Substitutions | Direct sequencing, PCR based assay |
Doffinger R et al., 2001 |
15 | Substitutions | Genomic: g.20661C>G CDS: c.863C>G AnimoAcid: p.Ala288Gly |
Substitutions | Direct sequencing, PCR based assay |
Doffinger R et al., 2001 |
16 | Substitutions | Genomic: g.22217A>G CDS: c.1259A>G AnimoAcid: p.X420Trp |
Substitutions | Direct sequencing, PCR based assay |
Mansour S et al., 2001 |
17 | Substitutions | Genomic: g.16347T>G CDS: c.458T>G AnimoAcid: p.Leu153Arg |
Substitutions | Direct sequencing, PCR based assay |
Orange JS et al., 2002 |
18 | Substitutions | Genomic: g.22165C>T CDS: c.1207C>T AnimoAcid: p.Gln403X |
Substitutions | Direct sequencing, PCR based assay |
Orange JS et al., 2002 |
19 | Substitutions | Genomic: g.22207T>C CDS: c.1249T>C AnimoAcid: p.Cys417Arg |
Substitutions | Direct sequencing, PCR based assay |
Orange JS et al., 2002 |
20 | Substitutions | Genomic: g.16347T>G CDS: c.458T>G AnimoAcid: p.Leu153Arg |
Substitutions | Direct sequencing |
Orange JS et al., 2004 |
21 | Substitutions | Genomic: g.21715G>A CDS: c.1056-1G>A AnimoAcid: |
Substitutions | Direct sequencing |
Orange JS et al., 2004 |
22 | Substitutions | Genomic: g.22165C>T CDS: c.1207C>T AnimoAcid: p.Gln403X |
Substitutions | Direct sequencing |
Orange JS et al., 2004 |
23 | Substitutions | Genomic: g.22207T>C CDS: c.1249T>C AnimoAcid: p.Cys417Arg |
Substitutions | Direct sequencing |
Orange JS et al., 2004 |
24 | Substitutions | Genomic: g.22208G>A CDS: c.1250G>A AnimoAcid: p.Cys417Tyr |
Substitutions | Direct sequencing |
Orange JS et al., 2004 |
25 | Insertion | Genomic: g.9869_9870insC CDS: c.110_111insC AnimoAcid: p.Ala37fs |
Insertion | Direct sequencing |
Niehues T et al., 2004 |
26 | Deletion | Genomic: g.20609_20626del CDS: c.811_828del AnimoAcid: p.Glu271fs |
Deletion | Direct sequencing |
Ku CL et al., 2005 |
27 | Substitutions | Genomic: g.13973T>C CDS: c.239T>C AnimoAcid: p.Leu80Pro |
Substitutions | Direct sequencing |
Ku CL et al., 2005 |
28 | Duplications | Genomic: g.20590dupA CDS: c.792dupA AnimoAcid: p.Lys264fs |
Duplications | Direct sequencing |
Martinez-Pomar N et al., 2005 |
29 | Duplications | Genomic: g.22125dupC CDS: c.1167dupC AnimoAcid: p.Glu390ArgfsX5 |
Duplications | Direct sequencing |
Schmid JM et al., 2006 |
30 | Substitutions | Genomic: g.21347A>C CDS: c.944A>C AnimoAcid: p.Glu315Ala |
Substitutions | Direct sequencing |
Filipe-Santos O et al., 2006 |
31 | Substitutions | Genomic: g.21359G>A CDS: c.956G>A AnimoAcid: p.Arg319Gln |
Substitutions | Direct sequencing |
Filipe-Santos O et al., 2006 |
32 | Substitutions | Genomic: g.16406C>G CDS: c.517C>G AnimoAcid: p.Arg173Gly |
Substitutions | Direct sequencing |
Ku CL et al., 2007 |
33 | Substitutions | Genomic: g.14071G>A CDS: c.337G>A AnimoAcid: p.Asp113Asn |
Substitutions | Dideoxy fingerprinting, PCR based assay |
Salt BH et al., 2008 |
34 | Duplications | Genomic: g.22125dupC CDS: c.1167dupC AnimoAcid: p.Glu390ArgfsX5 |
Duplications | Direct sequencing |
Mancini AJ et al., 2008 |
35 | Duplications | Genomic: g.22119dupC CDS: c.1161dupC AnimoAcid: p.Glu390ArgfsX4 |
Duplications | Direct sequencing |
Kosaki K et al., 2001 |
36 | Deletion | Genomic: g.22119delC CDS: c.1161delC AnimoAcid: p.Glu390fs |
Deletion | CSGE, Direct sequencing |
Aradhya S et al., 2001 |
37 | Duplications | Genomic: g.22119dupC CDS: c.1161dupC AnimoAcid: p.Glu390ArgfsX5 |
Duplications | CSGE, Direct sequencing |
Aradhya S et al., 2001 |
38 | Duplications | Genomic: g.22124_22136dup13 CDS: c.1166_1178dup13 AnimoAcid: p.Asp394ArgfsX5 |
Duplications | CSGE, Direct sequencing |
Aradhya S et al., 2001 |
39 | Deletion | Genomic: g.22121_22133del13 CDS: c.1163_1175del13 AnimoAcid: p.Pro388fs |
Deletion | CSGE, Direct sequencing |
Aradhya S et al., 2001 |
40 | Substitutions | Genomic: g.9928G>A CDS: c.169G>A AnimoAcid: p.Glu57Lys |
Substitutions | Denaturing HPLC, Direct sequencing |
Fusco F et al., 2004 |
41 | Deletion | Genomic: g.14000_14002delAGA CDS: c.266_268delAGA AnimoAcid: p.Lys90del |
Deletion | Denaturing HPLC, Direct sequencing |
Fusco F et al., 2004 |
42 | Substitutions | Genomic: g.14071G>A CDS: c.337G>A AnimoAcid: p.Asp113Asn |
Substitutions | Denaturing HPLC, Direct sequencing |
Fusco F et al., 2004 |
43 | Substitutions | Genomic: g.14101C>T CDS: c.367C>T AnimoAcid: p.Arg123Trp |
Substitutions | Denaturing HPLC, Direct sequencing |
Fusco F et al., 2004 |
44 | Substitutions | Genomic: g.9943C>T CDS: c.184C>T AnimoAcid: p.Arg62X |
Substitutions | Denaturing HPLC, Direct sequencing |
Fusco F et al., 2004 |
45 | Substitutions | Genomic: g.19488C>T CDS: c.715C>T AnimoAcid: p.Gln239X |
Substitutions | Denaturing HPLC, Direct sequencing |
Fusco F et al., 2004 |
46 | Substitutions | Genomic: g.22108C>T CDS: c.1150C>T AnimoAcid: p.Gln384X |
Substitutions | Denaturing HPLC, Direct sequencing |
Fusco F et al., 2004 |
47 | Insertion | Genomic: g.21346_21347insG CDS: c.943_944insG AnimoAcid: p.Glu315GlyfsX79 |
Insertion | Denaturing HPLC, Direct sequencing |
Fusco F et al., 2004 |
48 | Substitutions | Genomic: g.19546G>A CDS: c.768+5G>A AnimoAcid: |
Substitutions | Direct sequencing |
Orstavik KH et al., 2006 |
49 | Insertion | Genomic: g.22125_22126insC CDS: c.1167_1168insC AnimoAcid: p.Glu390ArgfsX5 |
Insertion | NA |
Tono C et al., 2007 |
50 | Duplications | Genomic: g.22125dupC CDS: c.1167dupC AnimoAcid: p.Glu390ArgfsX5 |
Duplications | NA |
Chang TT et al., 2008 |
51 | Substitutions | Genomic: g.21370G>C CDS: c.967G>C AnimoAcid: p.Ala323Pro |
Substitutions | Direct sequencing |
Sebban-Benin H et al., 2007 |
52 | Substitutions | Genomic: g.19491G>T CDS: c.718G>T AnimoAcid: p.Glu240X |
Substitutions | Direct sequencing |
Has C et al., 2007 |
53 | Substitutions | Genomic: g.22208G>T CDS: c.1250G>T AnimoAcid: p.Cys417Phe |
Substitutions | Direct sequencing, PCR based assay |
Doffinger R et al., 2001 |
54 | Deletion | Genomic: c.400-?_1260+?del CDS: AnimoAcid: |
Deletion | PCR based assay |
Zou CC et al., 2007 |
55 | Substitutions | Genomic: g.21715G>A CDS: c.1056-1G>A AnimoAcid: |
Substitutions | Direct sequencing, PCR based assay |
Orange JS et al., 2004 |
56 | Duplications | Genomic: g.16289-?_19541dup CDS: c.400-?_768dup AnimoAcid: p.Lys224fsX9 |
Duplications | Direct sequencing, Southern blotting |
Nishikomori R et al., 2004 |
57 | Substitutions | Genomic: g.5504G>T CDS: c.-4257G>T AnimoAcid: |
Substitutions | Direct sequencing |
Mooster JL et al., 2010 |
58 | Substitutions | Genomic: g.16326T>G CDS: c.437T>G AnimoAcid: p.Val146Gly |
Substitutions | Direct sequencing |
Devora GA et al., 2010 |
59 | Deletion | Genomic: g.22141_22142delTT CDS: c.1183_1184delTT AnimoAcid: p.Phe395LeufsX11 |
Deletion | Direct sequencing |
Roberts CM et al., 2010 |
60 | Substitutions | Genomic: g.21346G>C CDS: c.943G>C AnimoAcid: p.Glu315Gln |
Substitutions | Direct sequencing |
Hoshina T et al., 2011 |
61 | Substitutions | Genomic: g.21336C>G CDS: c.933C>G AnimoAcid: p.Asp311Glu |
Substitutions | Direct sequencing |
Imamura M et al., 2011 |
62 | Substitutions | Genomic: g.20566G>C CDS: c.769-1G>C AnimoAcid: |
Substitutions | Direct sequencing, PCR based assay |
Karakawa S et al., 2011 |
63 | Substitutions | Genomic: g.21335A>G CDS: c.932A>G AnimoAcid: p.Asp311Gly |
Substitutions | Direct sequencing |
Hubeau M et al., 2011 |