Table 1 All EYA4 variants found in this study.

From: Prevalence and clinical features of hearing loss caused by EYA4 variants

#	RefSeq ID	Nucleotide Change	Amino Acid Change	Exon	Domain	Genomic position (GRCh37.p5)	SIFT	PolyPhen2_HVIR	PolyPhen2_HVAR	LRT	Mut _Taster	Mut _Assessor	FATHMM	Meta SVM	Meta LR	CADD_Phred	Allele Frequency (Exac03)		ACMG criteria (supporting evidence)
Likely causative
1	NM_004100	c.222_223del	p.T74fs	5	V	133769262											0		Likely Pathogenic (PVS1 + PM2)
2	NM_004100	c.498delG	p.Q166fs	8	V	133783533											0		Likely Pathogenic (PVS1 + PM2)
3	NM_004100	c.517C > T	p.Q173X	8	V	133783552				0.843	0.810					39.000	0		Likely Pathogenic (PVS1 + PM2 + PP3)
4	NM_004100	c.580 + 1G > A		intron 8	V	133783616					0.810					26.200	0		Likely pathogenic(PVS1 + PM2 + PP3)
5	NM_004100	c.910delC	p.P304fs	11	V	133789809											0		Likely Pathogenic (PVS1 + PM2)
6	NM_004100	c.988C > T	p.Q330X	12	V	133802618				0.843	0.810					47.000	0		Likely Pathogenic (PVS1 + PM2 + PP3)
7	NM_004100	c.1109G > C	p.R370P	13	E	133804171	0.912	0.899	0.971	0.629	0.810	0.888	0.975	0.995	0.984	34.000	0		VUS (PM2 + PP3)
8	NM_004100	c.1177C > T	p.Q393X	13	E	133804239				0.843	0.810					46.000	0.000008253	0.00009639(AFR)	Pathogenic (PVS1 + PS1 + PP3)
9	NM_004100	c.1216G > C	p.G406R	14	E	133827268	0.912	0.764	0.693	0.629	0.810	0.907	0.808	0.897	0.885	29.800	0		VUS (PM2 + PP3)
10	NM_004100	c.1663G > C	p.A555P	18	E	133844240	0.784	0.899	0.916	0.843	0.810	0.865	0.975	0.989	0.985	32.000	0		VUS (PM2 + PP3)
11	NM_004100			CNV		133782193–133789881													Likely pathogenic (PVS1 + PM2)
12	NM_004100			CNV		133756417–133852199													Likely pathogenic (PVS1 + PM2)
Unlikely causative
13	NM_004100	c.278T > C	p.M93T	6	V	133777694	0.153	0.090	0.127	0.305	0.810	0.065	0.623	0.514	0.500	14.76 *	0		VUS (PM2)
14	NM_004100	c.887C > T	p.S296L	11	V	133789786	0.721	0.548	0.533	0.629	0.537	0.741	0.853	0.816	0.812	23.600	0.00001651 **	0.0002(EAS) **	VUS (PP3)
15	NM_004100	c.936G > T	p.L312F	11	V	133789835	0.491	0.764	0.764	0.843	0.810	0.805	0.862	0.800	0.842	23.000	0.00001651 **	0.0002(EAS) **	VUS (PP3)
16	NM_004100	c.995C > T	p.P332L	12	V	133802625	0.348	0.764	0.739	0.843	0.810	0.684	0.953	0.970	0.972	27.900	0.000008264 **	0.0001(EAS) **	VUS (PS1 + PP3)
17	NM_004100	c.1790delT	p.V597fs	19	E	133846343											0		Pathogenic (PVS1 *** + PS1 + PM2)
18	NM_004100	c.1886_1899del	p.A629fs	20	E	133849909											0		VUS (PVS1 *** + PM2)

Abbreviation: V, variable region; E, Eya domain.
*CADD score is low.
**MAF is too high.
***These variants are unlikely causative because nonsense-mediated mRNA decay is not presumed to be triggered from the location of the variants (see Discussion section).

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Table 1 All EYA4 variants found in this study.

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