| SI.No | Mutation change | Expt Name | PubMed | ||
| 1 | Substitutions | Genomic: g.9297T>C CDS: c.520+2T>C AnimoAcid: |
Substitutions | Direct sequencing |
Soudais C et al., 1993 |
| 2 | Deletion | Genomic: g.8063_8064delCC CDS: c.128_129delCC AnimoAcid: p.Thr43fs |
Deletion | Direct sequencing |
de Saint Basile G et al., 2004 |
| 3 | Substitutions | Genomic: g.8111G>A CDS: c.176G>A AnimoAcid: p.Trp59X |
Substitutions | Direct sequencing |
Soudais C et al., 1993 |