Table 1.

Molecular Genetic Data of EYS patients.

ID	Sex	Nucleotide Change	Amino Acid Change	Allele State	Varsome	ACMG Criteria				dbSNP rs	References
1	M	c.8411_8412insTT	p.(Thr2805*)	HOM	LP	PVS1	PM2			NA	[11]
2	F	c.8598del	p.(Gly2867Valfs*5)	HOM	P	PVS1	PM2	PP5		rs1050742628	NA
3	M	c.8161_8165del	p.(Gln2721Alafs*24)	HET	LP	PVS1	PM2			NA	NA
		c.9405T>A	p.(Tyr3135*)	HET	P	PVS1	PM2	PP5		rs137853190	[6]
4	M	c.5928-2A>G		HOM	P	PVS1	PM2	PP5		rs181169439	[2]
5	M	c.5621dup	p.(Pro1875Thrfs*8)	HET	LP	PVS1	PM2			NA	[22]
		c.8411_8412insTT	p.(Thr2805*)	HET	LP	PVS1	PM2			NA	[11]
6	M	c.8565_8568del	p.(Asn2855Lysfs*5)	HET	P	PVS1	PM2	PP5		rs1216993077	NA
		c.4073del	p.(Pro1358Glnfs*23)	HET	LP	PVS1	PM2			NA	NA
7	F	c.5644+5G>T		HOM	LP	PM2	PP3			NA	NA
8	F	c.4045C>T	p.(Arg1349*)	HET	P	PVS1	PM2	PP5		rs930421180	[2]
		c.4350_4356del	p.(Ile1451Profs*3)	HET		PVS1	PM2	PP5		rs761238771	[2]
9	F	c.7919G>A	p.(Trp2640*)	HOM	P	PVS1	PM2	PP5		rs527236066	[2]
10	F	c.403_423delinsCTTTT	p.(Thr135Leufs*26)	HET	P	PVS1	PM2	PP5		rs1582376398	[23]
		c.(2135_2204)_(2351_2469)del		HET	LP	PVS1	PM2			NA	NA
11	F	c.(2137+1_2138-1)_(2259+1_2260-1)del		HOM	LP	PVS1	PM2			NA	[24]
12	M	c.4045C>T	p.(Arg1349*)	HET	P	PVS1	PM2	PP5		rs930421180	[25]
		c.9299_9302del	p.(Thr3100Lysfs*26)	HET	P	PVS1	PM2	PP5		rs769824975	[26]
13	F	c.9328G>A	p.(Gly3110Ser)	HOM	VUS	PM2	PM5	PP3		NA	NA
14		c.5621dup	p.(Pro1875Thrfs*8)	HET	LP	PVS1	PM2			NA	[22]
		c.8411_8412insTT	p.(Thr2805*)	HET	LP	PVS1	PM2			NA	[11]
15	M	c.5928-2A>G		HOM	P	PVS1	PM2	PP5		rs181169439	[2]
16	F	c.4219C>T	p.(Gln1407*)	HET	LP	PVS1	PM2			rs1421392730	NA
		del ex32-35		HET	LP	PVS1	PM2			NA	NA
17	M	c.1852G>A	p.(Gly618Ser)	HET	VUS	PM2	PP5	BP4		rs142450703	[2]
		c.1561_1563del	p.(Asn521del)	HET	VUS	PM2	PM4	PP5		rs747069281	NA
		c.2309A>C	p.(Gln770Pro)	HET	VUS	PM2	BP4			rs398123574	[27]

Legend: F, female; M, male; HET, heterozygous; HOM, homozygous; in italics, in cis variants; NA, not available; VUS, variant of unknown significance; LP, likely pathogenic; P, pathogenic.