. 2020 Nov 10;7:37. doi: 10.1038/s41439-020-00125-7

Table 2.

Details of discovered rare missense mutations and in silico analyses.

Chr	Position^a	dbSNP ID^b	Transcript variant	Protein variant	SCZ (n = 370)	ASD (n = 192)	our cohort MAF^c	gnomAD^c,d	ESP^c	jMorp (4.7KJPN)	HGVD Frequency	In silico analysis
Chr	Position^a	dbSNP ID^b	Transcript variant	Protein variant	SCZ (n = 370)	ASD (n = 192)	our cohort MAF^c	gnomAD^c,d	ESP^c	jMorp (4.7KJPN)	HGVD Frequency	SIFT	PolyPhen-2
1	57480856	rs915578825	c.1144 G > T	p.G382C	1 F	0	1/1124	–	–	–	–	Damaging	Probably Damaging
1	57538009	rs755758685	c.385 G > A	p.V129I	1 M	0	1/1124	4/251140	–	0.0008	0.0009	Damaging	Probably Damaging

Chr Chromosome, SCZ schizophrenia, ASD autism spectrum disorders, MAF minor allele frequency, gnomAD Genome Aggregation Database, ESP Exome Sequencing Project, jMorp Japanese Multi Omics Reference Panel, HGVD Human Genetic Variation Database, F Female, M Male.

^aGenomic position based on NCBI builds GRCh 37 (Transcript ID ENST00000371236.2).

^bdbSNP Build 154.

^cminor allele count/total allele count.

^dgnomAD v2.1.1.