Table 8.
Variants and Polymorphisms
| Variations | Position | New | Number* |
|---|---|---|---|
| c.32-78 G>T | Intron 1 | No | 1 |
| 94-16 ins T | Intron 2 | Yes | 5 |
| c.832-54 A>G | Intron 8 | No | 1 |
| c.837 G>A T279T | Exon 9 | No | 2 |
| c.853 G>A G285R | Exon 9 | Yes | 1 |
| 1225 A>T T409S | Exon 11 | Yes | 1 |
| c.1603-57 T>C | Intron 14 | No | 2 |
| 1635 A>G R545R | Exon 14 | No | 7 |
| 1869 C>T L623L | Exon 16 | No | 1 |
| c.2176 G>T V726F | Exon 18 | Yes | 1 |
| c.2391 T>G N797K | Exon 20 | No | 1 |
| c.3604-95 delG | Intron 26 | Yes | 2 |
| c.3936 G>C L1312F | Exon 29 | Yes | 1 |
| 4234-13A>G | Intron 30 | Yes | 2 |
| c.4510 H1504Y | Exon 32 | Yes | 1 |
| c.4675-53 G>T | Intron 33 | No | 1 |
| c.4878 G>T V1626V; 5016 T>A N1672K | Exon 35 | Yes | 2 |
| c.5326-54 A>C | Intron 37 | No | 1 |
| 5234 G>A R1745H | Exon 37 | No | 7 |
| 5586+93insCT | Intron 39 | Yes | 1 |
| c.5723 A>T D1908V GAT->GTT | Exon 40 | No | 1 |
| c.5795 A>G Q1932R | Exon 41 | Yes | 1 |
| c.6118-76 ins TA | Intron 42 | Yes | 2 |
| 6290+27 T>A | Intron 43 | No | 2 |
| c.6443 T>C L2148P CTC->CCC | Exon 45 | No | 1 |
| 6913-114A>T | Intron 47 | No | 4 |
| 6913-114A>T | Intron 47 | No | 1 |
| c.3561 A>T 6913-114 | Intron 47 | Yes | 1 |
| c.7200+53 C>G | Intron 49 | No | 2 |
| 8027+11 C>T | Intron 54 | No | 6 |
| c.8571 T>C T2857T | Exon 58 | Yes | 1 |
| c.8810 A>G Q2937R | Exon 59 | No | 1 |
| c.9085-23 C>A | Intron 60 | Yes | 1 |
| 9649+15 T>C | Intron 66 | No | 5 |
| c.10789 L3597L; 10554-30_10554-35 del TTTC | Exon 75/intron 74 | Yes | 1 |
| c.3685*49 c>t | Intron 79 | Yes | 1 |
*
Number of samples with the same variation.