Recurrent variants and number of carriers in JS and non-JS cohorts
| Variant | Patients with JS (European+US cohorts) | non-JS subjects (Italian controls+gnomAD) | |||
| cDNA | Protein | het | hom | Het | hom* |
| TMEM216 c.218G>T† | p.(Arg73Leu) | 0+4 | 2+11 | 1+44‡ | – |
| TMEM237 c.52C>T§ | p.(Arg18*) | 2+0 | – | 1+16 | – |
| MKS1 c.1408–34_1408-6del¶ | – | 3+2 | – | 7+308** | – |
| MKS1 c.1476T>G | p.(Cys492Trp) | 8+1 | – | 11+14 | 1 parent of JS proband |
| KIAA0586 c.428delG | p.(Arg143Lysfs*4) | 19+29 | 3+5 | 163+781 | 1 parent of JS proband†† + 2 |
| KIAA0586 exons8-10 del‡‡ | early termination | 4+1 | – | n.a. | n.a. |
| KIAA0586 c.863_864delAA | p.(Gln288Argfs*7) | 3+3 | – | 0+8 | – |
| KIAA0586 c.1006C>T | p.(Gln336) | 2+0 | – | 3+2 | – |
| RPGRIP1L c.1843A>C | p.(Thr615Pro) | 2+4 | 2+0 | 1+17 | – |
| CC2D2A c.4667A>T | p.(Asp1556Val) | 10+16 | – | 17+51 | – |
| TMEM67 c.755T>C | p.(Met252Thr) | 3+2 | – | 3+23 | – |
*Parents of JS probands included.
†Ashkenazi Jewish founder variant.
‡Including 35 Ashkenazi Jewish.
§Hutterite founder variant.
¶Finnish/Northern European founder variant.
**Including 161 Finnish.
††Unaffected parent reported by Pauli et al.17
‡‡Fequency not available (n.a.) for non-JS cohorts.
JS, Joubert syndrome.