Changes in alternate PKHD1 exons not included in the longest open reading frame
| Frequency among: | |||
|---|---|---|---|
| Exon | Change | Patients | Controls |
| GenBank NM_138694.2, AY129465. | |||
| 38/38a (38.1) | g.157552 C→T | 1/58 | 1/100 |
| 39b (39.1) | g.175388 A→C | 2/58 | 1/100 |
| 39b (39.1) | g.175493 C→G | 3/58 | 2/100 |
| 62.1 | g.344048 A→T | 1/58 | 1/150 |
| 62.1 | g.344279 T→C | 19/58 | 31/100 |
| 62.2 | g.344411 C→G | 17/58 | 21/100 |
| 62.3 | g.344640 G→C | 7/58 | 33/100 |
| 62.3 | g.344703 C→T | 9/58 | 13/100 |
| 64.1 | g.405493 A→T | 3/58 | 6/100 |
| 64.4 | g.406199 G→A | 1/58 | 2/100 |
| 64.4 | g.406265 C→T | 2/58 | 1/200 |
| 64.4 | g.406288 C→G | 16/58 | 21/100 |
| 64.5 | g.406651 G→C | 4/58 | 5/100 |
| 64.6 | g.406651 G→C | 4/58 | 5/100 |