No. | Location | Nucleotide change | Amino acid change | References |
---|---|---|---|---|
1 | Exon 2 | c.105dupT | p.Gly36fs*10 | [14] |
2 | Exon 2 | c.208_209insA | / | [8] |
3 | Exon 2 | c.136C > T | p.Gln46* | |
4 | Exon 3 | c.342 T > G | p.Cys114Trp | |
5 | Exon 3 | c.342G > A | p.Cys114Try | [2] |
6 | Exon 4 | c.624delA | p.Lys208fs*24 | [14] |
7 | Exon 4 | c.624_625insA | p.Cys209fs*229 | [8] |
8 | Exon 4 | c.667 T > G | p.Cys223Gly | |
9 | Exon 4 | c.679dupA | p.Cys227Leufs*21 | [15] |
10 | Exon 4 | c.716_722delAAATGAG | p.Glu239fs*16 | [12] |
11 | Exon 4 | c.721 T > G | p.Cys241Gly | [15] |
12 | Exon 4 | c.729_735delGAGAAAA | p.Glu243fs*255 | |
13 | Exon 4 | c.756C > A | p.Cys252* | [7] |
14 | Exon 5 | c.840delT | p.Phe280Leufs*33 | [11] |
15 | Exon 5 | c.866_867insA | p.Gln289fs*31 | |
16 | Exon 5 | c.866dupA | p.Ser290Glufs*13 | [13] |
17 | Exon 5 | c.857C > G | p.Ser286* | [13] |
18 | Exon 5 | c.1000 T > C | p.Ser334Pro |