Table 5.
Patient ID | Disease presentation | Gene | Type | Mutations |
---|---|---|---|---|
3739 | LCA | CEP290 | Compound Heterozygous | c.5344C>T, p.R1782× |
c.1667_1668insA, p.I556Nfs×20 | ||||
3640 | LCA | CEP290 | Compound Heterozygous | c.1260_1264del, p.K421Gfs×2 |
c.2991+1655A>G | ||||
3645 | LCA | CEP290 | Compound Heterozygous | c.3811C>T, p.R1271× |
c.2991+1655A>G40 | ||||
3650 | LCA | CEP290 | Compound Heterozygous | c.547_550del, p.Y183Rfs×4 |
c.2991+1655A>G40 | ||||
3653 | LCA | CEP290 | Compound Heterozygous | c.4882C>T, p.Q1628× |
c.2991+1655A>G40 | ||||
3666 | LCA | CEP290 | Compound Heterozygous | c.1219_1220del, p.M407Efs×14 |
c.2991+1655A>G40 | ||||
3741 | LCA | CEP290 | Compound Heterozygous | c.4723A>T, p.K1575×42 |
c.2052+1_2052+2del | ||||
418 | LCA | CRB1 | Homozygous | c.984G>A, p.W328× |
3557 | LCA | CRB1 | Homozygous | c.3687C>A, p.C1229× |
1413 | LCA | GUCY2D | Homozygous | c.1116G>A, p.W372× |
3796 | LCA | IQCB1 | Compound Heterozygous | c.1518_1519del, p.H506QfsX1357 |
c.1381C>T, p.R461× | ||||
3752 | LCA | IQCB1 | Compound Heterozygous | c.1518_1519del, p.H506Qfs×1357 |
c.1465C>T, p.R489× | ||||
3737 | LCA | IQCB1 | Compound Heterozygous | c.1465C>T, p.R489× |
c.1381C>T, p.R461× | ||||
4019 | LCA | LRAT | Homozygous | c.613_614del, p.S205Yfs×27 |
3561 | LCA | OTX2 | Heterozygous | c.543_544insCTCA, p.Q181Hfs×7 |
1842 | Juvenile RP | PDE6A | Homozygous | c.205C>T, p.Q69× |
3676 | LCA | RPGRIP1 | Compound Heterozygous | c.1083_1084insGA, p.V364Efs×12 |
c.3749-1G>T | ||||
3677 | LCA | RPGRIP1 | Compound Heterozygous | c.1083_1084insGA, p.V364Efs×12 |
c.3749-1G>T | ||||
1315 | LCA | SPATA7 | Homozygous | c.1216—1G>A |
3679 | LCA | SPATA7 | Homozygous | c.1373del, p.V458Efs×48 |
3757 | LCA | TULP1 | Compound Heterozygous | c.1376_1377del, p.I459Rfs×12 |
1271 | LCA | TULP1 | Homozygous | c.725_728del, p.P242Qfs×16 |
c.1113—2A>C |
LCA, Leber congenital amaurosis; LOF, loss-of-function; RP, retinitis pigmentosa.