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. 2022 May;84(2):260–268. doi: 10.18999/nagjms.84.2.260

Table 1.

Details of discovered rare missense mutations and in silico analyses

Chr Gene
Region
Positiona Transcript
variant
Protein
variant
Translation
Impact
SCZ
(n=370)
ASD
(n=192)
our
cohort
MAFb
dsSNPIDc 1000
Genomes
Frequency
gnomADb jMorp
(4.7KJPN)b
HGVD
Frequency
21 Exonic 34399267 c.97G>A p.A33T missense 0 2 0.0017 rs1375013666 0.000004 0.0001

Chr: chromosome

SCZ: schizophrenia

ASD: autism spectrum disorders

MAF: minor allele frequency

gnomAD: The Genome Aggregation Database Exome Aggregation Consortium

jMorp: Japanese Multi Omics Reference Panel

HGVD: Human Genetic Variation Database

a Genomic position based on NCBI build GRCh 37 (Transcript ID ENST00000333337.3)

b minor allele count/total allele count

c dbSNP Build 153