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