Usher syndrome patients with sequence variants in two Usher genes
| Patient | Phenotype | Allele 1 | Allele 2 | Allele 3 |
|---|---|---|---|---|
| Val-1 | USH1 | CDH23 p.R2833G | MYO7A p.R302H | |
| Val-2 | USH1 | MYO7A p.A1340T | USH1C p.R80fs | |
| Val-4 | USH2 | USH2A p.C1002fs | MYO7A p.R302H | |
| H0151 | USH2 | USH2A p.C419F | MYO7A p.E1359fs | |
| H0165 | USH2 | USH2A p.R317R | MYO7A p.T1566M | |
| H2264 | USH2 | USH2A p.E767fs | MYO7A p.R1743W | |
| Val-3 | USH2 | USH2A p.K182fs | USH2A p.E767fs | MYO7A p.R1343S |
| H0900 | USH2 | USH2A p.V218E | USH2A p.W3955X | MYO7A p.T165M |
| P99-0345 | USH1 | MYO7A p.Q121fs | MYO7A p.Q121fs | USH1C p.P608R |