Exon | Nucleotide change | Sequence change | Reference |
3 | c.264 A>T | p.Gly88Gly | This study |
IVS2-27G>A | This study | ||
IVS3+26 A>G | 9 15 18 | ||
IVS6-32 T>C | 9 15 | ||
8 | c.1029T>C | p.Asn343Asn | This study |
10 | c.1299A>G | p.Glu433Glu | This study |
12 | c.1654G>A | p.Val552Ile | This study |
IVS13+16G>A | This study | ||
19 | c.2832A>G | p.Pro944Pro | This study |
20 | c.2964C>T | p.Leu988Leu | 18 |
23 | c.3507G>A | p.Gln1169Gln | This study |
IVS28+43G>A | 24 | ||
IVS43-16G>A | 25 | ||
IVS48+39 T>A | This study | ||
IVS48-3T>C | 15 18 |
Novel changes are shown in bold.