Table 1.

Pathogenic variants included in deafness genetic screening.

Gene	Inheritance pattern	Nucleotide change	Protein change	Frequency in Chinese population
GJB2 NM_004004.6	Autosomal recessive	c.235delC	p.Leu79Cysfs*3	0.0180
		c.299_300delAT	p.His100Argfs*14	0.0050
		c.176_191delGCTGCAAGAACGTGTG	p.Gly59Alafs*18	0.0012
		c.35delG	p.Gly12Valfs*2	0.0001
		c.167delT	p.Leu56fs	0
		c.109G > A	p.Val37Ile	0.0693–0.1250
		c.257C > G	p.Thr86Arg	0.0003
		c.508_511dupAACG	p.Trp172Thrfs*40	0.0003
		c.427C > T	p.Arg143Trp	0.0003
		c.35dupG	p.Val13Cysfs*35	0.0006
SLC26A4 NM_000441.2	Autosomal recessive	c.919-2A > G	Aberrant splicing	0.0134
		c.2168A > G	p.His723Arg	0.0027
		c.1174A > T	p.Asn392Tyr	0.0008
		c.1226G > A	p.Arg409His	0.0010
		c.1229C > T	p.Thr410Met	0.0008
		c.1975G > C	p.Val659Leu	0.0013
		c.2027T > A	p.Leu676Gln	0.0007
		c.589G > A	p.Gly197Arg	0.0003
		c.1707 + 5G > A	Aberrant splicing	0.0003
		c.281C > T	p.Thr94Ile	0.0003
		c.2162C > T	p.Thr721Met	0.0001
		c.916dupG	p.Val306Glyfs*24
12SrRNA	Mitochondrial	m.1494C > T		0.0002
		m.1555A > G		0.0021