Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study

Table 3 Summary of possible pathogenic mutations

Gene	Nucleotide change	Amino acid change	NCBI ID	dbSNP135	Allele frequency in 1000GENOME	Allele frequency in ESP6500	Allele frequency in Japanese control	PolyPhen-2 prediction (score)	PROVEAN prediction (score)	Pathogenicity	Family	Reference
ACTG1	c.802G>A	p.G268S	NM_001199954.1	None	-	0	0/192	Probably damaging (0.998	Deleterious (-4.504)	Possible	1
POU4F3	c.1007delC	p.A336Vfs	NM_002700.2	None	-	0	0/192	-	-	Possible	2
SLC26A5	c.390A>C	p.R130S	NM_198999.2	None	-	0	0/192	Benign (0.443)	Deleterious (-4.813)	Possible	3
SLC26A5	c.209G>A	p.W70X	NM_198999.2	None	-	0	n.t*.	-	-	Possible	3
SIX1	c.328C>T	p.R110W	NM_005982.3	rs80356459	No info	0	n.t.	Probably damaging (1.000)	Deleterious (-7.775)	Causative	4	35
MYO7A	c.6478T>G	p.W2160G	NM_000260.3	None	-	0	0/192	Probably damaging (1.000)	Deleterious (-12.649)	Possible	5
MYO7A	c.6439-2A>G (intron 51)	Splice mutation	NM_000260.3	None	-	0	0/192		-	Possible	5
CDH23	c.719C>T	p.P240L	NM_022124.5	rs121908354	1/2183	0	n.t.	Probably damaging (1.000)	Deleterious (-3.051)	Causative	6	43
PCDH15	c.848G>A	p.R283H	NM_001142763.1	None	-	1/13005	0/192	Probably damaging (0.998)	Neutral (-1.918)	Possible	6
USH2A	c.12431delC	p.A4144GfsX23	NM_206933.2	None	-	0	0/190		-	Possible	7

ISSN: 1750-1172