Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease

Table 2

List of nonpathogenic variations identified in patients with STGD by NGS analysis.

Gene	Patient ID: SG-01_II:1		Patient ID: SG-02_II:1		Patient ID: SG-03_II:1		Patient ID: SG-04_II:1		Patient ID: SG-05_V:1
	Variation identified^*	SNP ID	Variation identified	SNP ID	Variation identified	SNP ID	Variation identified	SNP ID	Variation identified	SNP ID
ABCA4	c.5844A>G	rs2275029	c.6006-16G>A	rs4147863	c.5844A>G	rs2275029	c.6006-16G>A	rs4147863	c.302+26A>G	rs2297634
	c.302+26A>G	rs2297634	c.302+26A>G	rs2297634	c.302+26A>G	rs2297634	c.1240-14C>T	rs4147830	c.-1086A>C	rs2151846
	c.1240-14C>T	rs4147830	c.5682G>C	rs1801574	c.5682G>C	rs1801574	c.1269C>T	rs4147831	c.-900A>T	rs3789452
	c.6729+21C>T	rs1800699	c.6729+21C>T	rs1800699	c.6285T>C	rs1801555	c.5682G>C	rs1801574	c.4774-17_4774-16delGT	rs199797077
	c.6285T>C	rs1801555	c.6285T>C	rs1801555	c.6006-16G>A	rs4147863	c.5715-25A>C	rs4147856
	c.6006-16G>A	rs4147863	c.5715-25A>C	rs4147856	c.5715-25A>C	rs4147856	c.6729+21C>T	rs1800699
	c.5603A>T	rs1801466	c.5844A>G	rs2275029	c.5836-11G>A	rs1800739	c.6285T>C	rs1801555
	c.5836-11G>A	rs1800739	c.5836-11G>A	rs1800739	c.5814A>G	rs4147857	c.5814A>G	rs4147857
	c.5814A>G	rs4147857	c.5814A>G	rs4147857	c.-1086A>C	rs2151846	c.5844A>G	rs2275029
	c.5715-25A>C	rs4147856	c.2918+942C>T	rs3789398	c.-900A>T	rs3789452	c.5836-11G>A	rs1800739
	c.5682G>C	rs1801574	c.-1086A>C	rs2151846
	c.2918+942C>T	rs3789398	c.-900A>T	rs3789452
	c.-1086A>C	rs2151846	c.5196+899C>T	rs145838948
	c.4774-17_4774-16delGT	rs199797077
CRB1	c.964+475dupT	rs77569447	c.-149delA	rs369741574	c.-149delA	rs369741574	c.964+475dupT	rs77569447	c.964+475dupT	rs77569447
			c.964+475dupT	rs77569447	c.964+475dupT	rs77569447	c.3934-92G>T	rs1135810
			c.2470-18A>G	rs7534863	c.2470-18A>G	rs7534863	c.2470-18A>G	rs7534863
			c.3934-92G>T	rs1135810	c.3934-92G>T	rs1135810
CNGB3	c.2264A>G	rs3735972	c.494-11delT	rs36008065	c.-100T>A	rs62622781	c.494-11dupT	rs36008065	c.494-11dupT	rs36008065
	c.-580_-579delCA	rs138187783	c.-100T>A	rs62622781			c.-596G>T	rs10956955	c.-596G>T	rs10956955
	c.494-11delT	rs36008065
	c.2214A>G	rs3735970
PROM1	c.2347-4dupC	rs34269395	c.2254-6C>G	rs3815344	c.2347-4dupC	rs34269395	c.303+6G>A	rs2078622	c.2347-6T>C	rs6449209
	c.2462+159dupT	rs3841512	c.2347-4dupC	rs34269395	c.759G>A	rs2286455			c.2486+3676G>C	rs3796859
	c.303+6G>A	rs2078622	c.2462+159dupT	rs3841512					c.2486+3681T>G	rs3796860
	c.1956+14G>A	rs4698436	c.303+6G>A	rs2078622
PRHP2	c.*13C>T	rs361524			c.910C>G	rs361524	c.*13C>T	rs361524	c.*13C>T	rs361524
ELOVL4	c.895A>G	rs3812153	c.-90G>C	rs62407622
			c.800T>C	rs148594713	c.-90G>C	rs62407622	c.895A>G	rs3812153	c.-90G>C	rs62407622

Nomenclature based on c DNA position according to human genome variation society (HGVS).