RAPID Lite

NBN

SI.No	Mutation type	Mutation change	Mutation effects	Expt Name	PubMed
1	Deletion	Genomic: g.13454_13458delACAAA CDS: c.657_661delACAAA AnimoAcid: p.Lys219fs	Deletion	Direct sequencing, PCR based assay	Matsuura S et al., 1998
2	Deletion	Genomic: g.13454_13458delACAAA CDS: c.657_661delACAAA AnimoAcid: p.Lys219fs	Deletion	Direct sequencing	Seemanova E et al., 2006
3	Substitutions	Genomic: g.13440C>T CDS: c.643C>T AnimoAcid: p.Arg215Trp	Substitutions	Direct sequencing	Seemanova E et al., 2006
4	Deletion	Genomic: g.13454_13458delACAAA CDS: c.657_661delACAAA AnimoAcid: p.Lys219fs	Deletion	PCR based assay	Tekin M et al., 2002
5	Deletion	Genomic: g.13454_13458delACAAA CDS: c.657_661delACAAA AnimoAcid: p.Lys219fs	Deletion	SSCP, Direct sequencing	Kleier S et al., 2000
6	Duplications	Genomic: g.14154_14155dupGG CDS: c.742_743dupGG AnimoAcid: p.Gly247fs	Duplications	Direct sequencing, PCR based assay	Di Masi A et al., 2006
7	Deletion	Genomic: g.14247_14250delCAGA CDS: c.835_838delCAGA AnimoAcid: p.Gln279fs	Deletion	Direct sequencing	Di Masi A et al., 2006
8	Deletion	Genomic: g.20168_20192del CDS: c.900_924del AnimoAcid: p.Gln300fs	Deletion	Direct sequencing	Di Masi A et al., 2006
9	Deletion	Genomic: g.13454_13458delACAAA CDS: c.657_661delACAAA AnimoAcid: p.Lys219fs	Deletion	Direct sequencing	Di Masi A et al., 2006
10	Deletion	Genomic: g.13454_13458delACAAA CDS: c.657_661delACAAA AnimoAcid: p.Lys219fs	Deletion	Direct sequencing, PCR based assay, SSCP	Varon R et al., 1998
11	Deletion	Genomic: g.13495_13498delAACA CDS: c.698_701delAACA AnimoAcid: p.Lys233Serfs	Deletion	Direct sequencing, PCR based assay, SSCP	Varon R et al., 1998
12	Duplications	Genomic: g.14254dupT CDS: c.842dupT AnimoAcid: p.Leu281fs	Duplications	Direct sequencing, PCR based assay, SSCP	Varon R et al., 1998
13	Deletion	Genomic: g.14247_14250delCAGA CDS: c.835_838delCAGA AnimoAcid: p.Gln279ProfsX1	Deletion	Direct sequencing, PCR based assay, SSCP	Varon R et al., 1998