Table 5.

Distribution of mutations in IRF6 exons in VWS and PPS collections.

		************* EXONS *********
		1	2	3	4	5	6	7	8	9	Row Totala	Row Averageb	p-valuec
VWS Total	A	4	2	36	54	5	13	44	15	34	207	23	<0.0001
VWS Trunc	B	4	2	11	9	4	11	13	5	21	80	9	0.05
VWS Miss	C	0	0	22	42	1	2	29	8	13	117	13	<0.0001
VWS Splice	D	0	0	3	3	0	0	2	2	0	10	1	0.45
PPS-Total	E	0	0	4	26	0	1	0	1	4	36	4	<0.0001
PPS-Trunc	F	0	0	0	0	0	1	0	1	3	5	≤1	0.73
PPS-Miss	G	0	0	1	26	0	0	0	0	1	28	4	<0.0001
PPS-Splice	H	0	0	3	0	0	0	0	0	0	3	≤1	0.79

^aTotal number of mutations in each row.

^bNumber of mutations expected in each exon if distributed randomly.

^cp-value comparing observed to expected distribution of mutations in each exon.