Mutations in XLRS cohort
| Mutation | Patients (N) | Previous report |
| Deletion of exon 1 | 1 | Retinoschisis Consortium9 |
| c.35T>A (p.Leu12His) | 2 | Retinoschisis Consortium9 |
| c.52+2T>C | 1 | Khan et al10 |
| Deletion of exons 2 and 3 | 1 | Khan et al10 |
| c.120C>A (p.Cys40X) | 1 | Retinoschisis Consortium9 |
| c.185–1G>A | 1 | Vincent et al11 |
| c.184+2T>G | 1 | Vincent et al11 |
| c.214G>A (p.Glu72Lys) | 3 | Retinoschisis Consortium9 |
| c.214G>C (p.Glu72Gln) | 2 | Yu et al12 |
| c.239A>C (p.Gln80Pro) | 1 | Novel |
| c.242T>A (p.Ile81Asn) | 1 | Simonelli et al13 |
| c.276G>C (p.Trp92Cys) | 1 | Hotta et al14 |
| c.304C>T (p.Arg102Trp) | 6 | Retinoschisis Consortium9 |
| c.305G>A (p.Arg102Gln) | 5 | Retinoschisis Consortium9 |
| c.317A>C (p.Gln106Pro) | 1 | Novel |
| c.325G>C (G109R) | 1 | Sauer et al15 |
| c.325G>T (p.G109W) | 1 | Sergeev et al16 |
| c.326G>C (p.Gly109Ala) | 1 | LOVD19 |
| c.329G>A (p.Cys110Tyr) | 2 | Retinoschisis Consortium9 |
| c.337C>T (p.Leu113Phe) | 1 | Retinoschisis Consortium9 |
| c.378delT (p.Leu127Ter) | 1 | Novel |
| c.421C>T (p.R141C) | 3 | Retinoschisis Consortium9 |
| c.435dupT (p.Glu146fs) | 1 | Novel |
| c.496T>C (p.Tyr166His) | 1 | Chen et al17 |
| c.508A>C (p.Thr170Pro) | 1 | Novel |
| c.526T>C (p.Phe176Val) | 1 | Novel |
| c.554C>A (p.Thr185Lys) | 2 | Sergeev et al16 |
| c.574C>T (p.Pro192Ser) | 5 | Retinoschisis Consortium9 |
| c.575C>T (p.Pro192Leu) | 1 | Lesch et al18 |
| c.579dupC (p.Ile194fs) | 3 | Retinoschisis Consortium9 |
| c.589C>T (p.Arg197Cys) | 1 | Retinoschisis Consortium9 |
| c.596T>C (p.Ile199Thr) | 1 | Retinoschisis Consortium9 |
| c.598C>T (p.Arg200Cys) | 4 | Retinoschisis Consortium9 |
| c.599G>A (p.Arg200His) | 1 | Retinoschisis Consortium9 |
| c.608C>T (p.P203L) | 1 | Retinoschisis Consortium9 |
| c.637C>T (p.Arg213Trp) | 2 | Retinoschisis Consortium9 |
All variant positions are specified with respect to Ensembl transcript ENST00000379984.24
LOVD, Leiden Open Variation Database; XLRS, X-linked retinoschisis.