Table 1.

Mutations in KCNQ4 detected in individuals with nonsyndromic hearing loss by WES.

Gene symbol	Family	Sex	Age of onset	Nucleotide changea	Amino acid change	Exon (zygosity, segregation)	GERPb	PhyloPc	Frequencies in the dbSNP databased	Frequencies in the gnomAD databasee	Frequencies in the NBK databasef	PP2g	MTh	PROVEANi	SIFTj
KCNQ4	YUHL 35	Fm	30 yr	c.796G>T	p.Asp266Tyr	5 (het, ND)	5.08	4.749	ND	ND	ND	PD (0.980)	DC (0.999)	Del (−2.96)	Dam (0.001)
	YUHL 41	Fm	Early 1st decade	c.259_267del GTCTACAAC	p.Val87_Asn89del	1 (het, F)	NA	NA	ND	ND	ND	NA	PM (0.866)	Del (−17.62)	NA

Abbreviations are as follows: Dam, damaging; DC, disease causing; Del, deleterious; F, heterozygous mutation identified in the father; Fm, female; het, heterozygous in the affected individual; M, heterozygous mutation identified in the mother; MT, Mutation Taster; NA, not applicable; ND, no data or DNA available; PD, probably damaging; PM, polymorphism; PP2, PolyPhen-2 prediction score Humvar; PROVEAN, Protein Variation Effect Analyzer; SIFT, Sorting Intolerant from Tolerant; SNP, single nucleotide polymorphism; yr, years; YUHL, Yonsei University Hearing Loss cohort.

^acDNA mutations are numbered according to the human cDNA reference sequence NM_004700.3 (KCNQ4); +1 corresponds to the A of ATG translation initiation codon. ^bGenomic Evolutionary Rate Profiling (GERP) score. ^bPhyloP100way_vertebrate score. ^ddbSNP database (http://www.ncbi.nlm.nih.gov/SNP). ^egenome Aggregation Database browser (http://gnomad.broadinstitute.org/). ^fNational Biobank of Korea (NBK), Centers for Disease Control and Prevention. ^gPolyPhen-2 (PP2) prediction score HumVar ranges from 0 to 1.0; 0 = benign, 1.0 = probably damaging (http://genetics.bwh.harvard.edu/pph2/). ^hMutation taster (http://www.mutationtaster.org/). ⁱPROVEAN, (http://provean.jcvi.org/index.php). ^jSIFT, (http://sift.jcvi.org/).