Table 1.

C-terminal deletions in the cohort

Mutation	Frequency (%), all	Frequency (%), Australia	Frequency (%), InterRett
C-terminal deletions	79 (9.5%)	19 (10.6%)	60 (9.2%)
Early truncation	36 (4.3%)	6 (3.3%)	30 (4.5%)
Large deletions	44 (5.2%)	14 (7.8%)	30 (4.5%)
Other	100 (12.0%)	20 (11.2%)	80 (12.2%)
p.R106W	31 (3.7%)	7 (3.9%)	24 (3.6%)
p.R133C	56 (6.7%)	13 (7.3%)	43 (6.5%)
p.R168X	91 (10.9%)	19 (10.6%)	72 (11%)
p.R255X	99 (11.8%)	14 (7.8%)	85 (12.9%)
p.R270X	64 (7.6%)	15 (8.4%)	49 (7.4%)
p.R294X	62 (7.4%)	18 (10.1%)	44 (6.7%)
p.R306C	62 (7.4%)	12 (6.7%)	50 (7.6%)
p.T158M	108 (12.9%)	21 (11.7%)	87 (13.3%)
Total	832	178	654