Table 1.
Germline mutations found in familial schwannomatosis kindreds and the effects observed in mRNA (family 23 has both schwannomatosis and RTPS1)
| Family ID | Exon | Germline mutation | Mutant amplicons identified |
|---|---|---|---|
| 4 | 1 | c.41C > A | r.41C > A |
| 9 | 2 | c.158G > T | r.158G > U |
| PA-1 | 2 | c.158G > T | r.158G > U |
| E | 3 | c.362 + 1G > A | r.318_362del |
| 11 | 4 | c.364G > T | r.363_500del |
| 23 | 4 | c.472C > T | r.363_500del, r.390_500del, r.796_986del |
| PA-3 | 4 | c.500G > A | r.390_500del |
| V | 4 | c.500 + 5G > T | r.390_500del |
| P/Qu | 6 | c.629-5T > G | r.500ins501-145_501-1 |
| 19 | 6 | c.795 + 1G > T | r.795_796ins795 + 1_795 + 45ins, r.628_795del |
| 1 | 9 | c.*82C > T | r.*82C > U |
| 3 | 9 | c.*82C > T | r.*82C > U |
| 5 | 9 | c.*82C > T | r.*82C > U |
| 10 | 9 | c.*82C > T | r.*82C > U |