Table 2. Causative mutations.

Category	Observed	Expected	O–E	% functional
Within exon	101	7.1	93.9	93.0
Introns ≤400 bp	14	2.1	11.9	85.0
Within 200 bp of acceptor site	5	1.8	3.2	64.0
Within 200 bp of donor site	12	1.8	10.2	85.0
Within first intron	38	15.3	22.7	59.7
Not within first intron	41	24.4	16.6	40.5
≤500 bp of TSS	20	5.4	14.6	73.0
501 bp to 2 kb of TSS	17	11.9	5.1	30.0
>2 kb of TSS	55	60.4	−5.4	−9.8
≤500 bp of TES	19	6.0	13.0	68.4
501 bp to 2 kb of TES	13	10.0	3.0	23.1
>2 kb of TES	68	56.2	11.8	17.4
Total	403	202.4	200.6

% functional = (observed–expected)/observed.