No | Exon | Nucleotide change | Amino acid change | Mutation classification | Previously reported? | No. of cases (n= 83) | Pathogenicity | Ethnicity |
---|---|---|---|---|---|---|---|---|
1 | 10 | c. 1036G > T | p. E346X | Nonsense | Yes1 | 1 | Deleterious | Malay |
2 | 10 | c. 1001_1006dup6 | p. G334_R335dup | Duplication | Yes2 | 1 | Likely deleterious | Malay |
3 | 5 | c. 413C > T | p. A138V | Missense | Yes1 | 1 | Likely deleterious | Chinese |
4 | 8 | c. 853G > A | p. E285K | Missense | Yes1 | 2 | Likely deleterious | Chinese |
5 | Intron 2 | c. 74+14T > C | - | IVS | Novel | 2 | Likely benign | Chinese |
6 | Intron 3 | c. 97-28T > A | - | IVS | Novel | 1 | Unknown | Chinese |
7 | Intron 6 | c. 672+18G > C | - | IVS | Yes1 | 1 | Likely benign | Malay |