| SI.No | Mutation change | Expt Name | PubMed | ||
| 1 | Deletion | Genomic: g.70734_70739delATGAGT CDS: c.1082_1087delATGAGT AnimoAcid: p.Glu362_Tyr363del |
Deletion | Direct sequencing, PCR based assay |
Tchilian EZ et al., 2001 |
| 2 | Substitutions | Genomic: g.77834G>A CDS: c.1444+1G>A AnimoAcid: |
Substitutions | Direct sequencing |
Kung C et al., 2000 |
| 3 | Substitutions | Genomic: g.57765C>A CDS: c.155C>A AnimoAcid: p.Thr52Asn |
Substitutions | Direct sequencing, PCR based assay |
Jacobsen M et al., 2002 |
| 4 | Substitutions | Genomic: g.57780C>G CDS: c.170C>G AnimoAcid: p.Pro57Arg |
Substitutions | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Muralitharan S et al., 2007 |
| 5 | Substitutions | Genomic: g.79260A>T CDS: c.1618A>T AnimoAcid: p.Lys540X |
Substitutions | Sanger Sequencing |
Roberts JL et al., 2012 |