. 2016 Sep 12;6:33311. doi: 10.1038/srep33311

Table 2. Details of discovered rare missense mutations and in-silico analyses.

Chromosome^a	Physical Position^a	Exon	cDNA position^b	Base Change M^c > m^c	dbSNP Reference^d	AA substitution	SCZ (n = 574)		ASD (n = 152)		In silico analyses for AA substitutions
Chromosome^a	Physical Position^a	Exon	cDNA position^b	Base Change M^c > m^c	dbSNP Reference^d	AA substitution	Genotype count^e	MAF	Genotype count^e	MAF	Polyphen 2	SIFT	Pmut
12	13866157	2	c.52	G > A	rs201094029	V18I	0/0/279	N/A	0/2/150	0.0067	0.106 (benign)	0.14 (tolerated)	0.0439 (neutral)
12	13611737	8	c.1768	G > A	rs145021339	A590T	0/1/573	0.0009	0/0/150	N/A	0.987 (probably damaging)	0.158 (tolerated)	0.1209 (neutral)
12	13564120	13	c.3118	G > A	rs202222002	G1040S	0/0/571	N/A	0/1/149	0.0034	1.000 (probably damaging)	0.605 (tolerated)	0.3915 (neutral)
12	13563942	13	c.3296	G > A	N/A	R1099H	0/0/571	N/A	0/1/149	0.0034	0.999 (probably damaging)	0.016 (damaging)	0.4828 (neutral)
12	13563363	13	c.3875	A > G	N/A	K1292R	0/1/567	0.0009	0/0/150	N/A	0.014 (benign)	0.411 (tolerated)	0.0536 (neutral)

Abbreviations: SCZ, schizophrenia; ASD, autism spectrum disorders ; N/A, not applicable; MAF, minor allele frequency; AA, amino acid.

^aGenomic position is based on GRCh38.

^bcDNA position is based on ENST00000609686.

^cM, major allele; m, minor allele.

^ddbSNP release142.

^eGenotype count; homozygote of major allele/heterozygote/homozygote of minor allele.