Molecular Vision: Sun, Mol Vis 2025; 31:33-43. Table 2

Table 2. Signicant data mining genes and genetic mutational analysis.

Gene	Exon	Location in the gene	cDNA change	SNP ID number	CytoBand	Highest- MAF	P value	Previously reported	Prediction (SIFT/ polyphen2/Mutaton Taster)
ZNF717	Exon5	chr3–75787486	c.1288G>A	rs77649281	3p12.3	0.015	<0.001	/	T/B/N
	Exon5	chr3–75786252	c.2522C>A	rs140641854	3p12.3	0.003	<0.001	/	D/P/D
IHH	UTR3	chr2–219919754	c.*175C>G	rs3099	2q35	0.421	<0.001	Yes	−/−/-
SEC22B	intron	chr1–145112288 145,112,288	N-N-G-GCA	-	1q21.1	0.000	<0.001	/	−/−/-
IGSF3	Exon3	chr1–117156585	c.634C>T	rs139013364	1p13.1	0.001	<0.001	/	−/−/D
	Exon3	chr1–117156459	c.760G>A	rs61786651	1p13.1	0.000	<0.001	/	D/P/D
HYDIN	Exon15	chr16–71101200	c.2068A>G	rs10744982	16q22.2	0.002	<0.001	/	T/D/D
	Exon22	chr16–71054178	c.3229A>G	rs6416709	16q22.2	0.004	<0.001	/	T/B/N
	Exon40	chr16–70989335	c.6259C>T	rs1774541	16q22.2	0.004	<0.001	/	D/P/D
	Exon44	chr16–70972620	c.6892C>G	rs1774360	16q22.2	0.000	<0.001	/	D/P/D
GGT1	Exon14	chr22–25024072	c.1361G>T	rs199681469	22q11.23	0.000	<0.001	/	D/B/D
	Exon12	chr22–25023441	c.1063C>T	rs200419006	22q11.23	0.001	<0.001	/	D/P/D
FRG1	Exon7	chr4–190881969	c.604G>A	rs6846627	4q35.2	0.000	<0.001	/	T/B/D
CDC27	Exon12	chr17–45214699	c.1441A>G	rs62075623	17q21.32	0.000	<0.001	/	D/P/D
LRRC37A3	UTR5	chr17–62893457	c.-82A>T	rs11650755	17q24.1	0.376	<0.001	/	−/−/-
CTAGE4	exon1	chr7–143882864	c.2268T>C	rs200691220	7q35	0.048	<0.001	/	−/−/-
	exon1	chr7–143882889	c.2293C>T	rs201820489	7q35	0.043	<0.001	/	T/B/N
	exon1	chr7–143882922	c.2326A>G	rs200196623	7q35	0.085	<0.001	/	T/B/N
ADAMTS7	Exon19	chr15–79058307	c.3946T>A	rs200436984	15q25.1	0.025	<0.001	/	T/B/N