Table 2 of Seong, Mol
Vis 2008; 14:1429-1436.
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 |