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Heterozygous (non-mosaic) mutations identified by ultra-deep 454 pyro-sequencing.
| Exon | Mutation | Protein | R (reported)or NR (not reported) | Frequency of reads (%) | Confirmed by standard sequencing |
|---|---|---|---|---|---|
| TSC1-E23 | 3184C>T | R1062W | NR | 45 | Yes |
| TSC2-E4 | 451A>T | R151X | NR | 45 | Yes |
| TSC2-E19 | 2210T>C | L737P | R | 43 | Yes |
| TSC2-E29 | 3520delC | Frameshift | NR | 51 | Yes |
| TSC2-E 37 | 4911_4913delGAA | K1638del | R | 53 | Yes |
