Table 1 of
Oishi, Mol Vis 2016; 22:150-xxx. Table 1 of
Oishi, Mol Vis 2016; 22:150-xxx.
Table 1. Known mutations and novel potentially causative changes detected in patients.
| ID | Type | Phenotype | Gene | Mutation | Reference | rs ID | |
|---|---|---|---|---|---|---|---|
| Patients harboring known mutations | |||||||
| K1741 | simplex | CRD | ABCA4 | c.6445C>T | p.R2149* (homo) | [19,21] | rs61750654 |
| K2022 | ad | CD | PRPH2 | c.589A>G | p.K197E (hetero) | [38] | rs62645931 |
| K2039 | simplex | CRD | ABCA4 | c.1760+2T>G (homo) | [20,30] | rs61751385 | |
| K3341 | ad | CD | GUCY2D | c.2512C>T | p.R838C (hetero) | [39] | rs61750172 |
| K6073 | ad | CRD | PROM1 | c.1117C>T | p.R373C (hetero) | [40] | rs137853006 |
| K6120 | ar | CRD | ABCA4 | c.1957C>T | p.R653C (homo) | [21,31] | rs61749420 |
| K6205 | ad | CRD | PROM1 | c.1117C>T | p.R373C (hetero) | [40] | rs137853006 |
| K6343 | simplex | CD | CRX | c.121C>T | p.R41W (hetero) | [41] | rs104894672 |
| Patients harboring at least one novel mutation | |||||||
|---|---|---|---|---|---|---|---|
| K2044 | ar | CRD | ABCA4 | c.3050+1G>A (homo) | Novel | NA | |
| K6140 | simplex | CD | CDHR1 | c.386A>G | p.N129S (homo) | Novel | NA |
| K6247 | ar | CRD | CRB1 | c.652+1_652+4del (homo) | Novel | NA | |
| K6496 | simplex | CD | KCNV2 | c.529T>C | p.C177R (hetero) | [42] | NA |
| c.454G>A | p.D152N (hetero) | Novel | NA | ||||
| K6345 | simplex | CRD | CRX | c.284delG (hetero) | Novel | NA | |
| K3479 | ar | Bradyopsia | RGS9BP | c.211G>T | p.E71* (homo) | Novel | NA |