Table 3. Rare coding variants identified in ASMT.

Individuals	Mutation	Genotype	Cases	Controls	Inheritance	Prediction of possible functional impact		Exome Variant Servere
			(n = 398)	(n = 437)	statusa	Polyphen 2 HumDivb	SIFTc	Allele Countf	MAFg (EA/AA/All)
Autism only
	p.R115W	CT	2	0	Mother	Possibly damaging	Affect protein function	-	-
	p.V166I	AG	1	0	Mother	Benign	Tolerated	EA:A = 2/G = 8590AA:A = 0/G = 4406All: A = 2/G = 12996	0.0233/0/0.0154
	p.V179G	GT	2	0	MotherFather	Benign	Tolerated	-	-
	p.W257X	AG	1	0	Father	Damaging	Neutrald	-	-
Autism and controls
	rs17149149 (p.N17K)	AC	18	30	N.A	Possibly damaging	Tolerated	EA:A = 2/G = 8588AA:A = 9/G = 4393All:A = 11/G = 12981	0.0233/0.2045/0.0847
	p. G151S	AG	7	9	N.A	Benign	Tolerated	EA:A = 2/G = 8590AA:A = 1/G = 4405All:A = 3/G = 12995	0.0233/0.0277/0.0231
	p.I211M	CG	1	1	Mother	Possibly damaging	Affect protein function	-	-
	p.P243L	CT	1	1	Father	Probably damaging	Affect protein function	EA:T = 3/C = 8589AA:T = 2/C = 4404All:T = 5/C = 12993	0.0349/0.0454/0.0385
Controls only
	rs17149149 (p.N17K)	AA	0	1	N.A	Possibly damaging	Tolerated	EA:A = 2/G = 8588AA:A = 9/G = 4393All:A = 11/G = 12981	0.0233/0.2045/0.0847
	p.T217M	CT	0	1	N.A	Possibly damaging	Tolerated	EA :T = 3/C = 8589AA :T = 2/C = 4404All :T = 5/C = 12993	0.0349/0.0454/0.0385

^a, Inheritance status only for cases;

^b, The possible functional impact of amino acid changes was predicted by the PolyPhen 2 program HumDiv model;

^c, Functional prediction performed by SIFT;

^d, Functional prediction performed by SIFT indel;

^e, Mutations found in database of Exome Variant Server;

^f, The observed allele counts for the listed alleles (delimited by/);

^g, The minor-allele frequency in percent listed in the order of European American (EA), African American(AA) and all populations (All) (delimited by/). N.A, data was not available.