Table 4.

Phenotype related to variant type.

		Truncating variants			Missense
Phenotype	Overall	Truncating variants	P-value	Trend	Missense	P-value	Trend
ID	86.7% (26/30)	80% (16/20)	0.2793	NA	100% (6/6)	0.0004816	↑***
Autism	27.5% (11/40)	25.8% (8/31)	0.9109	NA	40% (2/5)	0.08549	NA
Epilepsy	41.5% (17/41)	26.7% (8/30)	0.03955	↓*	85.7% (6/7)	2.17E-10	↑***
Macrocephaly	46.5% (20/43)	54.5% (18/33)	0.3222	NA	0% (0/6)	2.61E-14	↓***
Microcephaly	9.3% (4/43)	0% (0/33)	0.005316	↓**	66.7% (4/6)	1.01E-15	↑***

^*p < 0.05;

^**p < 0.01;

^***p < 0.001; ↑ occur possibility up; ↓ occur possibility down.