| SI.No | Mutation change | Expt Name | PubMed | ||
| 1 | Deletion | Genomic: g.7353_7360delTTCGCTCC CDS: c.297_304delTTCGCTCC AnimoAcid: p.Ser100fs |
Deletion | Direct sequencing, PCR based assay |
Elloumi-Zghal H et al., 2002 |
| 2 | Deletion | Genomic: c.365_697del CDS: r.365_697del AnimoAcid: p.Glu122fs |
Deletion | Direct sequencing, PCR based assay |
Altare F et al., 1998 |
| 3 | Deletion | Genomic: g.8162_12804del CDS: c.482+82_856-852del AnimoAcid: |
Deletion | Direct sequencing |
Picard C et al., 2002 |
| 4 | Insertion | Genomic: g.7371_7372insA CDS: c.315_316insA AnimoAcid: p.Glu108GlyfsX8 |
Insertion | Direct sequencing |
Picard C et al., 2002 |