. 2017 Aug 31;101(3):478–484. doi: 10.1016/j.ajhg.2017.08.004

Table 1.

List of Identified Genes with Clustering de Novo Missense Mutations

Gene name	Transcript ID	# de novo missense	Median distance (bp)	p value	Adj. p value
ACTL6B^a	ENST00000160382	3	0	5.70E-07	1.10E-02
ALG13	ENST00000394780	3	0	1.50E-07	2.89E-03
CDK13	ENST00000181839	12	273	<1.00E-08	<1.93E-04
COL4A3BP	ENST00000380494	6	18	2.60E-07	5.01E-03
GABBR2^a	ENST00000259455	3	0	9.00E-08	1.74E-03
GRIN2B	ENST00000609686	11	354	1.57E-06	3.03E-02
KCNH1	ENST00000271751	7	65	1.00E-07	1.93E-03
KCNQ2	ENST00000354587	20	301	5.00E-08	9.64E-04
KIF5C	ENST00000435030	3	0	1.40E-07	2.70E-03
PACS1	ENST00000320580	9	0	<1.00E-08	<1.93E-04
PACS2^a	ENST00000458164	3	0	1.50E-07	2.89E-03
PCGF2	ENST00000360797	3	0	1.11E-06	2.14E-02
PPP2R1A	ENST00000322088	4	5	4.60E-07	8.87E-03
PPP2R5D	ENST00000485511	16	10	<1.00E-08	<1.93E-04
SMAD4	ENST00000398417	4	6	1.60E-07	3.08E-03

P values are based on a permutation test (N = 1.00E+08). Adj. p values are corrected by Bonferroni correction. The three identified genes that have not yet been implicated in ID/DD are indicated by an ^a.