Table 3.
Exon | Nucleotide change |
---|---|
Promoter | g.1 –1017T>C |
Promoter | g.[1 –804T>C (+) 1 –74A>T] |
Promoter | g.1 –300C>A |
2 | c.94 –46C>A |
2 | c.94 –25C>T |
3 | c.212 –63G>A3 |
3 | c.321G>A (synonymous) |
4 | c.388_390dupAAG (p.K9dup) |
4 | g.1598G>A (at +975 of the TGA) |