Table 3 MYH14 variant group.

ID	Age	Sex	Inheritance	Onset age	Nucleotide change	Amino acid change	gnomAD MAF	KRGDB	Mutation Taster	PP2	SIFT	CADD	DVD
563 − 21	62	M	AD	5th decade	c.2086G > A	p.D696N^§	2.49E-05	–	DC	0.696	0.05	22.6	VUS
551 − 21	54	M	AD	4th decade	c.2494G > A	p.V832I^§	–	–	DC	0.636	0.02	27.4	–
46 − 21	54	M	AD	5th decade	c.2636G > A	p.R879Q^§	2.50E-06	–	DC	0.756	0.00	25.8	–
83 − 21	67	M	AD	6th decade	c.2692 A > C	p.K898Q	1.81-05	5.89E-04	DC	0.995	0.02	26.7	LP²¹
207 − 21	71	F	AD	5th decade	c.2692 A > C	p.K898Q	1.81E-05	5.89E-04	DC	0.995	0.02	26.7	LP²¹
77 − 21	41	M	AD	3rd decade	c.3068 C > T	p.A1023V	4.27E-05	–	DC	0.814	0.00	25.9	VUS
1167-21	9	F	AD	congenital	c.73 C > T	p.Q25*	–	–	N/A	–	–	–	LP²⁰

^§ : Novel variants.
Accession number: NM_001145809.2, gnomAD: allele frequency of total exomes and genomes in v4.1.0, KRGDB: Korea Reference Genome Database, DC: disease-causing, PP2: Polymorphism Phenotype v2 (0.00-0.15: benign, 0.15–0.85: possibly damaging, 0.85-1.00: probably damaging), SIFT: Sorting Intolerant From Tolerant (0.00-0.05: damaging, 0.05-1.00: tolerated), CADD: Combined Annotation Dependent Depletion (< 10: tolerated, 10–20: possibly deleterious, > 20: probably deleterious, > 30: highly deleterious), DVD: Deafness variation database, VUS: Variant of unknown significance, LP: likely pathogenic, AD: Autosomal dominant.

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