Table 2. Relative frequency of variations and prediction of their effec .
| Location |
Systematic name (DNA level) |
Trivial name (protein effect) |
No. of alleles |
Relative frequency (%) |
phyloP | phastCons | Prediction |
| Exon7 | c.782G>A | p .R261Q | 4 | 6.66 | 6.198 | 1 | Disease causing |
| Exon7 | c.781C>T | p .R261X | 2 | 3.33 | 2.582 | 1 | Disease causing |
| Exon7 | c.838G>A | p .E280K | 1 | 1.66 | 6.203 | 1 | Disease causing |
| Exon7 | c.842C>T | p .P281L | 2 | 3.33 | 6.203 | 1 | Disease causing |
| Exon7 | c.721C>T | p .R241C | 1 | 1.66 | 4.439 | 1 | Disease causing |
| Exon7 | c.727C>T | p .R243X | 2 | 3.33 | 2.751 | 1 | Disease causing |
| Exon 11 | c.1197A>T | p .V399V | 1 | 1.66 | 0.423 | 1 | Disease causing |
| Intron11 | c.1199+1G>C | IVS11+1G>C | 1 | 1.66 | 6.012 | 1 | Disease causing |
| Exon 6 | c.696A>G | p .Q232Q | 7 | 11.6 | -3.252 | 0.005 | polymorphism |
| Exon7 | c.735G>A | p .V245V | 7 | 11.6 | 0.873 | 1 | Polymorphism |
| Exon11 | c.1155G>C | p .L385L | 2 | 3.3 | -0.213 | 0.749 | Polymorphism |
| Intron6 | c.706+36T>G | IVS6+36 T>G | 1 | 1.6 | -0.172 | 0 | Polymorphism |
| Intron 6 | c.706+44T>G | IVS6+44T>G | 1 | 1.6 | -0.986 | 0.004 | Polymorphism |
| Intron 10 | c.1066-15A>C | IVS10-15A>C | 3 | 5 | 0.479 | 0 | Polymorphism |