SI.No | Mutation change | Expt Name | PubMed | ||
1 | Substitutions | Genomic: g.2672C>G CDS: c.169C>G AnimoAcid: p.Arg57Gly |
Substitutions | Direct sequencing |
Buck D et al., 2006 |
2 | Substitutions | Genomic: g.3371T>C CDS: c.367T>C AnimoAcid: p.Cys123Arg |
Substitutions | Direct sequencing |
Buck D et al., 2006 |
3 | Substitutions | Genomic: g.14130C>T CDS: c.532C>T AnimoAcid: p.Arg178X |
Substitutions | Direct sequencing |
Buck D et al., 2006 |
4 | Deletion | Genomic: g.2680delG CDS: c.177delG AnimoAcid: p.Lys59fs |
Deletion | Direct sequencing |
Buck D et al., 2006 |
5 | Substitutions | Genomic: g.2683A>T CDS: c.177+3A>T AnimoAcid: |
Substitutions | Direct sequencing |
Buck D et al., 2006 |
6 | Duplications | Genomic: g.2514dupT CDS: c.11dupT AnimoAcid: p.Leu4fs |
Duplications | Direct sequencing |
Ahnesorg P et al., 2006 |
7 | Substitutions | Genomic: g.2672C>G CDS: c.169C>G AnimoAcid: p.Arg57Gly |
Substitutions | Direct sequencing, PCR based assay |
Dutrannoy V et al., 2010 |
8 | Duplications | Genomic: g.13175dupA CDS: c.495dupA AnimoAcid: p.Asp166ArgfsX20 |
Duplications | Direct sequencing, PCR based assay |
Dutrannoy V et al., 2010 |
9 | Deletion | Genomic: g.(2504-?)_3394+?del1884 CDS: c.(1-?)_390+?del AnimoAcid: |
Deletion | Direct sequencing, PCR based assay |
Dutrannoy V et al., 2010 |
10 | Deletion | Genomic: g.(1-?)_3394+?del6954 CDS: c.(1-?)_390+?del AnimoAcid: |
Deletion | Direct sequencing, PCR based assay |
Dutrannoy V et al., 2010 |
11 | Substitutions | Genomic: g.13206C>T CDS: c.526C>T AnimoAcid: p.Arg176X |
Substitutions | Direct sequencing, PCR based assay |
Dutrannoy V et al., 2010 |
12 | Substitutions | Genomic: g.14130C>T CDS: c.532C>T AnimoAcid: p.Arg178X |
Substitutions | Direct sequencing, PCR based assay |
Dutrannoy V et al., 2010 |
13 | Substitutions | Genomic: g.14130C>T CDS: c.532C>T AnimoAcid: p.Arg178X |
Substitutions | Direct sequencing |
Turul T et al., 2011 |