TABLE 3.

Pathogenicity analysis of novel variants.

Gene	NM transcript	Nucleotide change	Amino acid change	ACMG evidence	Pathogenicity
SLC26A4	NM_000441.2	c.410C > T	p.S137L	PM2_Supporting+PM3_Strong+PP3 + PP4	LP
RRM2B	NM_001172477.1	c.636G > C	p.L212F	PM2_Supporting+PP3 + PP4	VUS
OTOG	NM_001277269.2	c.6322_c.6323insGAGT	p.C2108fs*1	PVS1 + PM2_Supporting+PP4	P
SOX10	NM_006941.4	c.332_c.333insGCCTT	p.F111Lfs*37	PVS1 + PM2_Supporting+PP4	P
STRC	NM_1 53700.2	loss1 (EXON:1–29) (all)	19,052 bp	PVS1 + PM2_Supporting+PP4	P
STRC	NM_1 53700.2	c.4561_c.4562insC	p.R1521fs*6	PVS1 + PM2_Supporting+PP4	P
MYO15A	NM_016239.4	c.10419_c.10423delCAGCT	p.S3474fs*42	PVS1 + PM2_Supporting+PP4	P
MYO15A	NM_016239.4	c.10250_c.10252delCCT	p.S3417del	PM2_Supporting+PM3 + PM4 + PP4	P
MYO15A	NM_016239.4	c.10294_10308delCCTTGCATCCTTGCC	p.P3432_A3436del	PM2_Supporting+PM3 + PM4 + PP4	LP
PCDH15	NM_001354429.2	c.5048_5051dupAGAA	p.N1684fs*11	PVS1 + PM2_Supporting+PP4	P
LOXHD1	NM_144612.7	c.6388C > T	p.Q2130X	PVS1 + PM2_Supporting+PP4	P
LOXHD1	NM_144612.7	exon33‐38del		PVS1 + PM2_Supporting+PP4	P
CDH23	NM_022124.6	c.6693delT	p.F2231fs*3	PVS1 + PM2_Supporting+PP4	P
TMC1	NM_138691.3	c.1735G > A	p.A579T	PM2_Supporting+PP3 + PP4	VUS
DIAPH3	NM_001258370.2	c.2011A > G	p.I671V	PS4 + PM2_Supporting+PP1 + PP3 + PP4	LP
TBC1D24	NM_001199107.2	c.194G > A	p.R65H	PM2_Supporting+PM3 + PM5 + PP3 + PP4	LP
TBC1D24	NM_001199107.2	c.696_697insCTGGTGGA	p.E235Dfs*22	PVS1 + PM2_Supporting+PP4	P
TIMM8A	NM_004085.4	c.1A > G	p.M1V	PVS1 + PM2_Supporting+ PP4	P
PTPRQ	NM_001145026.2	c.1135A > G	p.I379V	PM2_Supporting+PP3 + PP4	VUS
SALL1	NM_002968.3	c.3968C > T	p.T1323M	PM2_Supporting+PP3 + PP4	VUS

Abbreviations: LP, likely pathogenic; P, pathogenic; VUS, variant of uncertain significance.