SI.No | Mutation change | Expt Name | PubMed | ||
1 | Substitutions | Genomic: g.14192C>T CDS: c.1660C>T AnimoAcid: p.Pro554Ser |
Substitutions | Direct sequencing |
Zhang SY et al., 2007 |
2 | Substitutions | Genomic: g.13440T>C CDS: c.908T>C AnimoAcid: p.Phe303Ser |
Substitutions | Direct sequencing |
Hidaka F et al., 2006 |
3 | Substitutions | Genomic: g.13766C>T CDS: c.1234C>T AnimoAcid: p.Leu412Phe |
Substitutions | Direct sequencing |
Nahum A et al., 2010 |
4 | Substitutions | Genomic: g.14192C>T CDS: c.1660C>T AnimoAcid: p.Pro554Ser |
Substitutions | Direct sequencing, PCR based assay |
Guo Y et al., 2011 |
5 | Substitutions | Genomic: g.14768G>T CDS: c.2236G>T AnimoAcid: p.Glu746X |
Substitutions | Direct sequencing, PCR based assay |
Guo Y et al., 2011 |