Table 6.
Putative Splicing Defects
| Sample | Position | DNA change | Splice site | New | Disease |
|---|---|---|---|---|---|
| TU22-TU77 | Intron 2 | c.94−1 G>A | Acceptor | No | BMD |
| TU34 | Intron 5 | c.358−2 A>G | Acceptor | No | DMD |
| TU296 | Intron 5 | c.358−2 A>T | Acceptor | No | DMD |
| TU219 | Intron 6 | c.530+1 G>A | Donor | Yes | DMD/BMD |
| TU309 | Intron 11 | c.1331+2 T>C | Donor | Yes | DMD/BMD |
| 2082 | Intron 11 | c.1332−9 A>G | Acceptor | No | DMD |
| TU124 | Intron 26 | c.3433−1 G>A | Acceptor | No | DMD |
| TU164 | Exon 26 | c.3603 G>A | Donor | Yes | DMD |
| TU105 | Intron 35 | c.5026−6 A>G | Acceptor | No | DMD |
| TU332 | Intron 48 | c.7098+1 G>A | Donor | No | DMD |
| TU379 | Exon 58 | c.8668 G>A | Donor | No | DMD |
| TU114 | Intron 58 | c.8668+1 G>A | Donor | Yes | DMD |
| TU209 | Intron 58 | c.8668+3 A>T | Donor | Yes | DMD/BMD |
| TU133 | Exon 65 | c.9560 A>G | Donor | No | DMD |
| TU54-1707 | Intron 65 | c.9563+1 G>A | Donor | No | DMD |
| TU36-TU97 | Intron 70 | c.10223+1 G>A | Donor | No | DMD |
| TU30 | Intron 70 | c.10223+5 G>T | Donor | Yes | DMD |