Table 2.

TMC1 variants identified in this study

Base change	AA change	Inheritance	SIFT	PP2	MutTaster	REVEL	CADD	8.3KJPN	gnomAD	AD_MAF	AR_MAF	ClinGenHL2018	References
c.100C > T	p.Arg34Ter	AR	–	–	A	–	36	0	0.000056	0	0.00018		Kurima et al. (2002)
c.210delG	p. Arg71GlyfsTer5	AR	–	–	–	–	–	0.0001	0	0	0.00018	Pathogenic	This study
c.247_249del	p.Glu83del	AR	–	–	–	–	–	0	0	0	0.00036		Sloan-Heggen et al. (2016)
c.338 T > C	p.Met113Thr	AR	D	P	D	0.263	24.8	0	0.000004	0	0.00018	VUS	This study
c.674C > T	p.Pro225Leu	AR	T	D	D	0.4	27.2	0	0.000044	0	0.00018		Brownstein et al. (2020)
c.741 + 1_ + 4del	spl	AR	–	–	–	–	–	0	0	0	0.00036	Pathogenic	This study
c.884 + 1G > A	spl	AR	–	–	D	–	27.2	0	0.000012	0	0.00012		Kurima et al. (2002)
c.1165C > T	p.Arg389Ter	AR	–	–	A	–	38	0	0.000068	0	0.00054		Meyer et al. (2005)
c.1235delT	p.Met413CysfsTer4	AR	–	–	-	–	-	0	0	0	0.00018	Pathogenic	This study
c.1333C > T	p.Arg445Cys	AR	D	D	D	0.662	35	0	0.000072	0	0.00036		Sirmaci et al. (2009)
c.1534C > T	p.Arg512Ter	AR	–	–	A	–	42	0	0.0003	0	0.00018		Kurima et al. (2002)
c.1592A > T	p.Asp531Val	AR	D	D	D	0.861	25.7	0	0	0	0.00018	VUS	This study
c.1627G > A	p.Asp543Asn	AD	D	D	D	0.472	32	0	0	0.0082	0		Moteki et al. (2016)
c.1714G > A	p.Asp572Asn	AD	T	D	D	0.465	29.7	0	0	0.0045	0		Kurima et al. (2002)
c.1764G > A	p.Trp588Ter	AR	–	–	A	–	42	0	0.000012	0	0.00054		Tlili et al. (2008)
c.2047_2048del	p.His683ArgfsTer169	AR	–	–	–	–	–	0	0	0	0.00036	Pathogenic	This study
c.2176_2177del	p.Ala726GlufsTer126	AR	–	–	–	–	–	0	0	0	0.00036	Pathogenic	This study

AA amino acid, AD autosomal dominant, AR autosomal recessive, PP2 PolyPhen2, MutTaster Mutation Taster, AD_MAF minor allele frequency in ADNSHL cases, AR_MAF minor allele frequency in ARNSHL cases