Table 2. Polymorphic sequence variations identified in this study.
| Gene | Variation | Allele frequency | Reference | Gene | Variation | Allele frequency | Reference | Gene | Variation | Allele frequency | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|
| GUCY2D | c.154G>T (A52S) | 0.75 | [23] | RPGRIP1 | c.287C>A (P96Q) | 0.05 | [26] | CRX | IVS3-67G>A | 0.08 | |
| c.741C>T (H247H) | 0.15 | c.450C>G (L150L) | 0.05 | IVS3-131A>T | 0.03 | ||||||
| c.1371C>T (C457C) | 0.15 | c.574A>G (K192E) | 0.3 | [26] | c.460A>G (T154A) | 0.03 | |||||
| IVS5+143C>T | 0.03 | IVS6-14_16delAAT | 0.28 | RDH12 | IVS2+60G>A | 0.4 | |||||
| IVS6+72C>T | 0.03 | IVS7+26T>C | 0.65 | IVS2-13insT | 0.08 | ||||||
| c.2101C>T (P701S) | 0.18 | [24] | IVS9-65G>A | 0.35 | IVS2-58A>G | 0.03 | |||||
| RPE65 | c.-20G>A | 0.03 | IVS11-8C>T | 0.03 | IVS3-115G>C | 1 | |||||
| IVS3-46G>A | 0.15 | IVS13+148delG | 0.03 | c.482G>A (R161Q) | 0.08 | [28] | |||||
| IVS9+112T>C | 0.25 | c.1797G>A (P599P) | 0.03 | c.570C>T (S190S) | 0.03 | ||||||
| c.1056G>A (E352E) | 0.33 | c.3097G>C (E1033Q) | 0.43 | [26] | TULP1 | IVS1+57T>C | 0.03 | ||||
| IVS12+20A>C | 0.4 | IVS21-148T>G | 0.03 | IVS1+58G>C | 0.03 | ||||||
| AIPL1 | c.1-106C>A | 0.3 | IVS21-27T>A | 0.03 | IVS1+62_67delAGTGGG | 0.03 | |||||
| c.1-107G>A | 0.03 | IVS22+154A>G | 0.1 | IVS2+18G>A | 0.08 | ||||||
| IVS1+36C>T | 0.08 | IVS23+17delT | 0.03 | IVS2+154A>G | 0.73 | ||||||
| IVS1+45T>C | 0.08 | CRB1 | IVS1-12A>T | 0.83 | IVS3+81G>C | 0.53 | |||||
| IVS1+105C>A | 0.08 | c.747C>T (D249D) | 0.03 | c.200C>G (T67R) | 0.85 | [29] | |||||
| IVS1+148G>A | 0.03 | IVS3-64A>G | 0.03 | IVS4-29C>T | 0.03 | ||||||
| c.268G>C (D90H) | 0.3 | [25] | IVS3-35T>C | 0.68 | IVS5+26C>T | 0.75 | |||||
| IVS2-14G>A | 0.03 | IVS4+35C>T | 0.1 | IVS5+170T>C | 0.7 | ||||||
| IVS2-10A>C | 0.45 | IVS4-53T>G | 0.68 | IVS7+108A>G | 0.55 | ||||||
| c.300A>G (L100L) | 0.53 | c.1410A>G (L470L) | 1 | IVS7-63G>A | 0.8 | ||||||
| IVS3-26T>C | 0.1 | c.2306G>A (R769H) | 0.05 | [27] | c.776T>C (I259T) | 0.58 | [30] | ||||
| IVS4+48G>A | 0.5 | IVS7-129C>A | 0.03 | c.783G>C (K261N) | 0.83 | ||||||
| IVS4-33C>T | 0.33 | c.2796G>A (P932P) | 0.03 | IVS8+83G>A | 0.03 | ||||||
| c.651A>G (P217P) | 0.73 | c.2809G>A (A937T) | 0.03 | IVS8-76T>C | 0.13 | ||||||
| IVS5+18G>A | 0.08 | IVS8+87C>G | 0.03 | IVS8-17G>C | 0.28 | ||||||
| IVS5+89C>T | 0.33 | IVS10+88insT | 0.1 | IVS13+90A>G | 0.1 | ||||||
| IVS13-87T>C | 0.05 |
All polymorphic sequence variations in nine genes are presented here. Allele frequency was estimated in the patient group. Ten among thirteen missense variants were previously reported as polymorphic variants elsewhere. Three novel ones including c.2809G>A in CRB1, c.460A>G in CRX and c.783G>C in TULP1 were classified as polymorphic variants.