Table 1.

Novel POU4F3 variants in the current study and in-silico prediction analysis

Proband	Genomic position: change (GRCh37/hg19)	HGVS		Location (exon/domain)	Zygosity/inheritance	Insilico predictions		Alternative allele frequency		ACMG/AMP 2018 guideline
		Nucleotide change	Amino acid change			CADD Phred	REVEL	KRGDB (1722 individuals)	GMAF (gnomAD)	Criteria	Classification
SB218-423	Chr5:145719554A>AA	c.564dupA	p.Ala189SerfsTer26	Exon2/POU	Het/autosomal dominant	NA	NA	Absent	Absent	PVS1, PM2, PS3_supporting	Pathogenic
SB307-610	Chr5:145719733T>C	c.743T>C	p.Leu248Pro	Exon2/POU	Het/autosomal dominant	29.3	0.950	Absent	Absent	PM2, PP3, PS3_supporting	VUS
SB438-852	Chr5:145719869C>G	c.879C>A	p.Phe293Leu	Exon2/homeobox	Het/autosomal dominant	24.8	0.913	Absent	Absent	PM2, PP3, PS3_supporting	VUS
SB347-679	Chr5:145719942G>A	c.952G>A	p.Val318Met	Exon2/homeobox	Het/autosomal dominant	29.6	0.936	Absent	Absent	PM2, PP3, PS3_supporting	VUS

Refseq transcript accession number NM_002700.2; Refseq protein accession number NP_002691.

HGVS: Human Genome Variation Society (https://www.hgvs.org/).

Sequence Variant Nomenclature (https://mutalyzer.nl/).

CADD: combined annotation dependent depletion (https://cadd.gs.washington.edu/).

REVEL: rare exome variant ensemble learner (https://sites.google.com/site/revelgenomics/).

KRGDB: Korean reference genome database (http://152.99.75.168:9090/KRGDB/welcome.jsp).

gnomAD: the genome aggregation database (https://gnomad.broadinstitute.org/).

MAF minor allele frequency, Het heterozygote, VUS variant uncertain significance, NA not available.