Mutation type | Exon no. | Nucleotide change | Amino acid change | No. of alleles | Reference |
---|---|---|---|---|---|
Missense | 9 | c.992A > G | p.Tyr331Cys | 1 | This study |
Nonsense | 3 | c.310C > T | p.Gln104* | 2 | [13], This study |
Nonsense | 9 | c.1071G > A | p.Trp357* | 1 | This study |
Nonsense | 9 | c.1090C > T | p.Arg364* | 1 | This study |
Nonsense | 13 | c.2666 T > A | p.Leu889* | 1 | This study |
Nonsense | 13 | c.2681G > A | p.Trp894* | 2 | [13], This study |
Nonsense | 15 | c.3091C > T | p.Arg1031* | 1 | [14] |
Nonsense | 16 | c.3173C > G | p.Ser1058* | 1 | [13] |
Nonsense | 19 | c.3565C > T | p.Arg1189* | 5 | [13], This study |
Frameshift | 5 | C.471_472delTT | p.Tyr158Serfs*8 | 1 | This study |
Frameshift | 13 | c.2189delT | p.Leu730fs*7 | 1 | This study |
Frameshift | 13 | c.2574_2575delGA | p.Asn859Glnfs*2 | 3 | [13], This study |
Frameshift | 19 | c.3456_3459dupCAAC | p.Ile1154Glnfs*3 | 1 | [14] |
Frameshift | 19 | c.3474_3475delTA | p.His1158fs*15 | 1 | [13] |
Splicing | IVS6 | c.637-6 T > G | p.Thr213Phefs*11 | 2 | This study |
Splicing | IVS13 | c.2715 + 1G > A | - | 2 | [13] |