Table 3.

MYH14 gene mutations related with sensorineural hearing loss

Exon	Mutationa	Amino acid change	Type of variant	Reference	DVD	ClinVar	LOVD3
E-1	c.20 C > A	S7X	Nonsense	Donaudy(2004) [7]	+	+	+
E-2	c.73 C > T	G25X	Nonsense	Kim(2016) [17]	–	–	–
E-2	c.359 C > T	S120L	Missense	Yang(2010) [16]	+	+	+
E-2	c.466C > T	S120L	Missense	Yang(2005) [3]	–	–	–
E-3	c.541 G > A	A181T	Missense	Qing (2014) [25]	+	–	+
E-3	c.572 A > G	A191G	Missense	Kim(2016) [17]	–	–	–
E-9	c.1126G > T	G376C	Missense	Donaudy(2004) [7]	–	–	–
E-12	c.1314del	P438L	Missense	–	–	–	+
E-16	c.2176 C > A	R726S	Missense	Donaudy(2004) [7]	–	–	+
E-19	c.2299C > A	A767S	Missense	–	+	+	–
E-20	c.2569A > C	L857G	Missense	–	–	–	+
E-22	c.2594C > T	T865 M	Missense	Qing (2014) [25]	–	–	+
E-22	c.2692A > C	L898G	Missense	–	+	–	–
E-23	c.2717C > T	T906M	Missense	–	+	–	–
E-23	c.2798G > T	A933L	Missense	–	–	–	+
E-23	c.2822G > T	R941L	Missense	Choi(2011) [6, 26]	–	–	–
E-24	c.2921G > T	A974L	Missense	–	+	+	–
E-24	c.2926C > T	L976F	Missense	Donaudy(2004) [7]	–	–	+
E-24	c.2971G > A	G991L	Missense	–	–	+	–
E-25	c.3049C > T	L1017P	Missense	–	+	+	–
E-33	c.4780G > A	G1594L	Missense	–	–	–	+
E-34	c.4885C > T	A1629C	Missense	–	–	–	+
E-35	c.4903G > A	G1635L	Missense	–	+	–	–
E-36	c.5008C > T	A1670C	Missense	Vona (2014) [27]	+	–	–
E-39	c.5417C > A	A1806D	Missense	this study	-	-	-
E-41	c.5893G > T	G1965X	Nonsense	-	-	-	+
E-43	c.6016G > T	G2006T	Missense	–	+	–	–

c variation at cDNA level, Clinvar Clinvar Database, DVD Deafness Variation Database, LOVD3 Leiden Open Variation Databas, MYH14 myosin heavy chain 14 (NM_001077186)

^aAll nucleotide and amino acid are abbreviated according to the International Union of Pure and Applied Chemistry