Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report

BMC Medical Genetics

Table 2 Rare and novel variants present in coding regions of 91 genes associated with non-syndromic hereditary hearing loss

Rare and novel variants present in panel of NSNHL genes in proband
Gene	Nucleotide	Exon	rsID	Sequence impact	CADD scaled	PolyPhen	SIFT	MAF 1000G all	MAF ESP all	MAF ExAC all
USH2A NM_206933.2	c.14074G > A p.Gly4692Arg	64	rs45549044	Missense	19.61	PD	T	0.002	0.0048	0.0048
EYA4 NM_004100.4	c.804G > C p.Gln268His	10	N/A	Missense, Splicing region variant	25	PD	D	N/A	N/A	N/A
MCPH1 NM_024596.4	c.2180C > T p.Pro727Leu	12	rs199861426	Missense	13.36	B	D	N/A	0.0008	0.0011
MYO7A NM_000260.3	c.5598C > A p.Leu1866=	40	rs111033504	Synonymous	3.5	N/A	N/A	0.002	N/A	0.0022
OTOA NM_144672.3	c.2229C > T p.Ala743=	20	rs461179	Synonymous	1.96	N/A	N/A	N/A	N/A	0.0094

1000G 1000 Genomes project, ESP Exome sequencing project, ExAC Exome Aggregation Consortium, MAF Minor allele frequency, PD probably damaging, B benign, T tolerated, D deleterious

ISSN: 1471-2350