SI.No | Mutation change | Expt Name | PubMed | ||
1 | Deletion | Genomic: g.19576_26080del CDS: c.178_557del AnimoAcid: p.Thr187Aspfs |
Deletion | PCR based assay |
Noordzij JG et al., 2003 |
2 | Substitutions | Genomic: g.17549G>T CDS: c.353G>T AnimoAcid: p.Gly118Val |
Substitutions | PCR based assay |
Noordzij JG et al., 2003 |
3 | Substitutions | Genomic: g.18573G>A CDS: c.404G>A AnimoAcid: p.Gly135Glu |
Substitutions | PCR based assay |
Noordzij JG et al., 2003 |
4 | Deletion | Genomic: c.162-?_246+?del CDS: AnimoAcid: |
Deletion | PCR based assay |
Kobayashi N et al., 2003 |
5 | Insertion | Genomic: g.44776_44777insAG CDS: c.1167_1168insAG AnimoAcid: p.Asp390ArgfsX5 |
Insertion | PCR based assay |
Kobayashi N et al., 2003 |
6 | Substitutions | Genomic: g.19635C>A CDS: c.597C>A AnimoAcid: p.Tyr199X |
Substitutions | PCR based assay |
Li L et al., 2002 |
7 | Deletion | Genomic: c.1_306del CDS: AnimoAcid: p.0 |
Deletion | PCR based assay |
Moshous D et al., 2001 |
8 | Substitutions | Genomic: g.8986C>T CDS: c.241C>T AnimoAcid: p.Arg81X |
Substitutions | PCR based assay |
Moshous D et al., 2001 |
9 | Deletion | Genomic: c.307_464del CDS: AnimoAcid: p.Lys103fs |
Deletion | PCR based assay |
Moshous D et al., 2001 |
10 | Substitutions | Genomic: g.27254G>C CDS: c.972+1G>C AnimoAcid: p.Thr307fs |
Substitutions | PCR based assay |
Moshous D et al., 2001 |
11 | Substitutions | Genomic: g.26081G>A CDS: c.917+1G>A AnimoAcid: p.Ala261_Glu324del |
Substitutions | PCR based assay |
Moshous D et al., 2001 |
12 | Substitutions | Genomic: g.17559G>T CDS: c.362+1G>T AnimoAcid: p.Lys103fs |
Substitutions | PCR based assay |
Moshous D et al., 2001 |
13 | Deletion | Genomic: g.21242delG CDS: c.780delG AnimoAcid: p.Ala261fs |
Deletion | PCR based assay |
Moshous D et al., 2001 |
14 | Substitutions | Genomic: g.21252C>T CDS: c.780+10C>T AnimoAcid: p.Ala261fs |
Substitutions | PCR based assay |
Moshous D et al., 2001 |
15 | Deletion | Genomic: c.307_678del CDS: AnimoAcid: p.Lys103_Gln226del |
Deletion | PCR based assay |
Moshous D et al., 2001 |
16 | Deletion | Genomic: c.1_246del CDS: AnimoAcid: p.0 |
Deletion | PCR based assay |
Moshous D et al., 2003 |
17 | Deletion | Genomic: g.44962_44968delTTGTGAA CDS: c.1353_1359delTTGTGAA AnimoAcid: p.Asp451fs |
Deletion | PCR based assay |
Moshous D et al., 2003 |
18 | Deletion | Genomic: g.44899_44915delACAAACCCCAGGATGCT CDS: c.1290_1306delACAAACCCCAGGATGCT AnimoAcid: p.Thr432fs |
Deletion | PCR based assay |
Moshous D et al., 2003 |
19 | Substitutions | Genomic: g.87T>C CDS: c.2T>C AnimoAcid: p.Met1Thr |
Substitutions | Direct sequencing |
Ege M et al., 2005 |
20 | Substitutions | Genomic: g.188C>G CDS: c.103C>G AnimoAcid: p.His35Asp |
Substitutions | Direct sequencing |
Ege M et al., 2005 |
21 | Substitutions | Genomic: g.18634G>A CDS: c.464+1G>A AnimoAcid: |
Substitutions | Direct sequencing, PCR based assay |
Rohr J et al., 2010 |
22 | Deletion | Genomic: g.(?_48)_8991+?del CDS: c.(?_-38)_246+?del AnimoAcid: p.0 |
Deletion | Direct sequencing, PCR based assay |
Pannicke U et al., 2010 |
23 | Deletion | Genomic: g.(?_48)_14286+?del CDS: c.(?_-38)_306+?del AnimoAcid: p.0 |
Deletion | Direct sequencing, PCR based assay |
Pannicke U et al., 2010 |
24 | Deletion | Genomic: g.18843_19981del1139 CDS: c.464+210_678+265del1139 AnimoAcid: p.Val156PhefsX3 |
Deletion | Direct sequencing, PCR based assay |
Pannicke U et al., 2010 |
25 | Deletion | Genomic: g.14261delC CDS: c.281delC AnimoAcid: p.Ser94PhefsX2 |
Deletion | Direct sequencing |
Pannicke U et al., 2010 |
26 | Deletion | Genomic: g.31104delA CDS: c.1050delA AnimoAcid: p.Val351LeufsX5 |
Deletion | Direct sequencing, PCR based assay |
Pannicke U et al., 2010 |
27 | Deletion | Genomic: g.34342_34348del7 CDS: c.1140_1146del7 AnimoAcid: p.Val381GlufsX19 |
Deletion | Direct sequencing, PCR based assay |
Pannicke U et al., 2010 |
28 | Substitutions | Genomic: g.17559G>T CDS: c.362+1G>T AnimoAcid: p.Lys103ValfsX7 |
Substitutions | Direct sequencing, PCR based assay |
Pannicke U et al., 2010 |
29 | Substitutions | Genomic: g.17563G>C CDS: c.362+5G>C AnimoAcid: p.Lys103ValfsX7 |
Substitutions | Direct sequencing, PCR based assay |
Pannicke U et al., 2010 |
30 | Substitutions | Genomic: g.167G>C CDS: c.82G>C AnimoAcid: p.Ala28Pro |
Substitutions | Direct sequencing, PCR based assay |
Pannicke U et al., 2010 |
31 | Substitutions | Genomic: g.17549G>T CDS: c.353G>T AnimoAcid: p.Gly118Val |
Substitutions | Direct sequencing, PCR based assay |
Pannicke U et al., 2010 |
32 | Substitutions | Genomic: g.19350A>T CDS: c.494A>T AnimoAcid: p.Asp165Val |
Substitutions | Direct sequencing, PCR based assay |
Pannicke U et al., 2010 |
33 | Substitutions | Genomic: g.21144C>A CDS: c.682C>A AnimoAcid: p.His228Asn |
Substitutions | Direct sequencing, PCR based assay |
Pannicke U et al., 2010 |
34 | Substitutions | Genomic: g.34349C>T CDS: c.1147C>T AnimoAcid: p.Arg383X |
Substitutions | Direct sequencing, PCR based assay |
Pannicke U et al., 2010 |
35 | Substitutions | Genomic: g.18573G>A CDS: c.404G>A AnimoAcid: p.Gly135Glu |
Substitutions | NA |
Darroudi F et al., 2007 |
36 | Deletion | Genomic: g.(?_86)_194+?del CDS: c.(?_1)_109+?del AnimoAcid: p.0 |
Deletion | NA |
Darroudi F et al., 2007 |
37 | Deletion | Genomic: g.(?_25944)_31115+?del CDS: c.(?_781)_1061+?del AnimoAcid: p.Leu355fsX16 |
Deletion | NA |
Darroudi F et al., 2007 |
38 | Deletion | Genomic: g.14287delG CDS: c.306+1delG AnimoAcid: p.Lys103ValfsX7 |
Deletion | Direct sequencing |
de Villartay JP et al., 2009 |
39 | Substitutions | Genomic: g.21223A>T CDS: c.761A>T AnimoAcid: p.His254Leu |
Substitutions | Direct sequencing |
de Villartay JP et al., 2009 |
40 | Deletion | Genomic: g.8953_8955delTTA CDS: c.208_210delTTA AnimoAcid: p.Leu70del |
Deletion | Direct sequencing, PCR based assay |
Evans PM et al., 2006 |
41 | Substitutions | Genomic: g.18546G>A CDS: c.377G>A AnimoAcid: p.Gly126Asp |
Substitutions | Direct sequencing, PCR based assay |
Evans PM et al., 2006 |
42 | Deletion | Genomic: g.(?_8907)_8991+?del CDS: c.(?_162)_246+?del AnimoAcid: p.Ser54ArgfsX14 |
Deletion | Direct sequencing, PCR based assay |
Kobayashi N et al., 2003 |
43 | Substitutions | Genomic: g.18634G>A CDS: c.464+1G>A AnimoAcid: p.[Met121_Arg155delinsIle; Arg155_Val156insTyrTrpGlySerTyrArg] |
Substitutions | Direct sequencing, PCR based assay |
Ijspeert H et al., 2011 |
44 | Substitutions | Genomic: g.28255G>C CDS: c.972+1997G>C AnimoAcid: p.Glu324ins61X |
Substitutions | Direct sequencing, PCR based assay |
Ijspeert H et al., 2011 |
45 | Deletion | Genomic: g.(?_1)_(8991_?)del CDS: c.(?_-85)_(246_?)del AnimoAcid: |
Deletion | Direct sequencing |
Heimall J et al., 2012 |
46 | Deletion | Genomic: g.(?_1)_(194_?)del CDS: c.(?_-85)_(109_?)del AnimoAcid: |
Deletion | Direct sequencing |
Heimall J et al., 2012 |