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).