Exon/ intron | cDNA mutation | Protein prediction | Mutation type | References | Number of families | Phenotype |
---|---|---|---|---|---|---|
5′UTR | c.-39A > G | - | - | Wang CC et al. [21] | 1 | NA |
Exon 1 | c.22dupA | p.Ser8LysfsX23 | Frameshift | Tsai et al. [18] (first report) | 1 | I |
Zeng J et al. [23] | 1 | I | ||||
Wang CC et al. [21] | 2* | NA | ||||
This work | 3 | I、II | ||||
Exon 2 | c.84 C > T | p.Ser28Ser | Silence | Wang CC et al. [21] | 1 | NA |
Exon 3 | c.400 G > A | p.Glu134Lys | Missense | This work | 2 | II |
Exon 5 | c.683 T > A | p.Leu228X | Nonsense | Tsai et al. [18] (first report) | 1 | I |
Zeng J et al. [23] | 1 | I | ||||
This work | 2 | I、II | ||||
Exon 5 | c.689C > T | p.Ser230Leu | Missense | Zeng J et al. [19] (first report) | 1 | I |
This work | 1* | II、III | ||||
Exon 6 | c.830A > G | p.Tyr277Cys | Missense | This work (first report) | 1 | II |
Intron 6 | c.835-1 G > A | - | Splice site | Zhu SY et al. [20] | 1 | I |
Exon 7 | c.863 G > T | p.Arg288Met | Missense | Qu YJ et al. [22] | 2 | I、II |