SI.No | Mutation change | Expt Name | PubMed | ||
1 | Deletion | Genomic: g.12170_12173delGCTT CDS: c.209_212delGCTT AnimoAcid: p.Cys70SerfsX20 |
Deletion | Direct sequencing |
Minegishi Y et al., 2006 |
2 | Deletion | Genomic: g.22561_22569del CDS: c.2302_2310del AnimoAcid: p.Ser768_Glu770del |
Deletion | NA |
Kilic SS et al., 2012 |