Table 1 isoforms of POC1A transcript detected in control sample and the pedigree samples
| Full-length isoform | 10-isoform | 9-isoform | 9- and 10- isoform | |
|---|---|---|---|---|
| Control | 62/74 (83.78%) | 12/74 (16.22%) | 0/74 (0.00%) | 0/74 (0.00%) |
| Carrier (father) | 29/76 (38.16%) | 5/76 (6.58%) | 34/76 (44.74%) | 8/76 (10.53%) |
| Carrier (mother) | 27/76 (35.53%) | 3/76 (3.95%) | 37/76 (48.68%) | 9/76 (11.84%) |
| Proband | 0/80 (0.00%) | 0/80 (0.00%) | 69/80 (86.25%) | 11/80 (13.75%) |