Sample | Source | UId | Sex | Age | Mutation | |||
---|---|---|---|---|---|---|---|---|
 |  |  |  |  | nt change | aa change | domain affected | type of mutation |
RTT1 | HBTRC | 4315 | F | 11 | c.763C>T | R255X | TRD-NLS | Nonsense |
RTT3 | HBTRC | 4422 | F | 12 | c.808C>T | R270X | TRD-NLS | Nonsense |
RTT4 | TICHR | NB | F | 18 | c.473C>T | T158M | MBD | Missense |
RTT5 | TICHR | KB | F | 11 | c.316C>T | R106W | MBD | Missense |
RTT6 | TICHR | BC | F | 21 | c.808C>T | R270X | TRD-NLS | Nonsense |
RTT9 | BCM | 93-244 | F | 4 | c.750insC | P251fs | TRD | Frameshift/Truncation |
CON4 | NSWTRC | 88210 | F | 43 | Â | Â | Â | Â |
CON5 | NSWTRC | 88295 | F | 42 | Â | Â | Â | Â |
CON6 | NSWTRC | 88365 | F | 31 | Â | Â | Â | Â |
CON7 | NSWTRC | 88304 | F | 43 | Â | Â | Â | Â |
CON8 | NSWTRC | 9092 | F | 46 | Â | Â | Â | Â |
CON10 | NSWTRC | 12862 | F | 52 | Â | Â | Â | Â |