Table 1.

Burden of de novo variants in 138 probands with sporadic CFM.

	Observed		Expected		Enrichment	P value
Class	#	#/subject	#	#/subject
All variants	153	1.11	154.2	1.12	0.99	0.55
Synonymous	48	0.35	43.8	0.32	1.10	0.28
Protein altering	101	0.73	110.4	0.80	0.92	0.83
Total missense	78	0.57	96.9	0.70	0.81	0.98
Damaging missense	15	0.11	18.2	0.13	0.83	0.80
Loss of function (LOF)	23	0.17	13.6	0.10	1.69	0.01

Bold values represent significant enrichment.

#, number of de novo variants in 138 probands with sporadic CFM; Rate, number of de novo variants per subject; Damaging missense as called by MetaSVM; Loss of function denotes premature termination, frameshift, or splice site variant. P values represent the uncorrected upper tail of the Poisson probability density function (one-sided).