Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique

Table 2

Type of mutations in the families.

Type	Family	Mutation site	Amino acid changes	Type of mutation	Novel mutation
MYO15A	J02	6892C>T	p.R2298X	Nonsense mutation	Novel
	J07	9514C>T/7894G>T	p.Q3172X/p.V2632L	Nonsense mutation/missense mutation	Novel
	J16	9514C>T	p.Q3172X	Nonsense mutation	Novel
MYO7A	J03	1258A>T	p.K420X	Nonsense mutation	Novel
TMC1	J09	773G>A	p.G258D	Missense mutation	Novel
	J11	1247T>G/1312G>A	p.L416R/p.A438T	Missense mutation	Reported previously
PCDH15	J08	4658delT	p.M1553fs	Frameshift mutation	Novel
	J13	4658delT	p.M1553fs	Frameshift mutation	Novel