Table 1. Causative variants detected in all solved families.
| Fam (RP) | Gene | Nt Change | Prot Change | Status | Cvg Mut | Ref. |
|---|---|---|---|---|---|---|
| 134 | RPGR | c.3168G > C | p.R1056S | Hem | 320 | Novel |
| 234# | EYS | c.1971delT (*) | p.S658Vfs*4 (*) | Hem | 360 | 11 |
| c.(1766 + 1_1767 − 1)_(2023 + 1_2024 − 1)del (*) | NA | Het | – | |||
| 258 | NR2E3 | c.194_202del | p.N65_C67del | Het | 136 | 35 |
| c.967dupA | p.M323Nfs*18 | Het | 400 | Novel | ||
| 298 | ABCA4 | c.3386G > T (*) | p.R1129L (*) | Het | 392 | 36 |
| c.1819G > C | p.G607R | Het | 443 | 37 | ||
| 356 | USH2A | c.10272_10273dupA (*) | p.C3425Ffs*4 (*) | Het | 739 | 38 |
| c.10712C > T | p.T3571M | Het | 721 | |||
| 435 | USH2A | c.2276G > T (*) | p.C759F (*) | Het | 899 | 39 |
| c.12569T > C | p.V4190A | Het | 813 | Novel | ||
| CRB1 | c.3988G > T (*) | p.E1330* (*) | Het | 738 | 40 | |
| 15# | RPGR | c.2405-2406delAG (*) | p.E802Gfs*32 (*) | Hem | 174 | 41 |
| 95 | BBS1 | c.1169T > G | p.M390R | Het | 401 | 23 |
| c.1474-2A > G | NA | Het | 277 | Novel | ||
| 353 | CRB1 | c.2290C > T (*) | p.R764C (*) | Het | 699 | 42 |
| c.2579delA | p.N861Ifs*21 | Het | 860 | Novel | ||
| 359 | PRPF8 | c.6994dupG | p.D2332Gfs*53 | Het | 363 | Novel |
| 488 | BBS1 | c.1169T > G (*) | p.M390R (*) | Het | 629 | 23 |
| c.118delT | p.C40Afs*2 | Het | 676 | Novel | ||
| 512 | RS1 | c.522 + 1G > C | NA | Hem | 289 | Novel |
| 63 | IMPDH1 | c.402 + 57G > A | NA | Het | 139 | 43 |
| 82 | RP1 | c.368_369dup | p.P124Afs*20 | Hom | 269 | 44 |
| 118 | CDH23 | c.5816G > A | p.R1939K | Het | 169 | Novel |
| c.7221C > A | p.Y2407* | Het | 180 | 45 | ||
| 157 | NMNAT1 | c.197G > A | p.R66Q | Het | 467 | ExAC |
| c.769G > A | p.E257K | Het | 421 | 46 | ||
| 193 | CEP290 | c.5254C > T | p.R1752W | Hom | 173 | 47 |
| 236 | USH2A | c.754G > T | p.G252C | Het | 346 | Novel |
| c.4474G > T | p.E1492* | Het | 329 | 48 | ||
| c.(9258 + 1_9259 − 1)_(11389 + 1_11390 − 1)del | NA | Het | – | Novel | ||
| 247 | USH2A | c.6937G > T | p.G2313C | Het | 294 | Rs1 |
| c.1000C > T (*) | p.R334W (*) | Het | 304 | 49 | ||
| 264 | PRPF3 | c.1283-60_1283-57delATAT | NA | Het | 29 | Rs2 |
| 277 | RDH12 | c.295C > A (*) | p.L99I (*) | Het | 292 | 50 |
| c.481C > T | p.R161W | Het | 313 | 51 | ||
| 449 | BBS2 | c.1780C > T | p.R594* | Het | 166 | Novel |
| c.471 + 1G > A | NA | Het | 147 | Novel | ||
| 519 | BBS10 | c.1244delA | p.H415Lfs*16 | Het | 258 | 52 |
| c.273C > G | p.C91W | Het | 283 | 53 | ||
| 522 | CRX | c.(100 + 1_101 − 1)_(*1097_?)del | NA | Het | – | Novel |
Cvg Mut: coverage for each position. Asterisks “(*)”: variants previously detected by other techniques. Pads
“#”: families solved prior to this study. Rs1: rs199840367 and rs2: rs66790680. ExAC: Variant present in the Exome Aggregation Consortium.