Table 2.
Strong candidate variants in sporadic cases
| No | Inheritance* | Gene | Genotype | Chr | Exon | nucleotide | amino acid | Mutation Type | Reference | EVS | In-house | Class |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 430 | AD | PRPF31 | Hetero | 19 | 1 | c.310G > A | p.E104K | nonsynonymous | Novel | - | - | II |
| 432 | AD | PRPH2 | Hetero | 6 | 1 | c.380A > G | p.E127G | nonsynonymous | Novel | - | - | II |
| 436 | AR | PDE6B | Compound hetero | 4 | 8 | c.832C > T | p.H278Y | nonsynonymous | rs121918581 | - | - | Ι |
| 1 | c.32G > A | p.W11X | nonsense | Novel | - | - | II | |||||
| 438 | AR | USH2A | Compound hetero | 1 | 42 | c.8885 T > G | p.L2962R | nonsynonymous | Novel | - | - | II |
| 18 | c.4460G > A | p.W1487X | nonsense | Novel | - | - | II | |||||
| 439 | AR | EYS | Compound hetero | 6 | 8 | c.1750G > T | p.E584X | nonsense | Novel | - | - | II |
| 26 | c.4958_4959insA | p.S1653fs | frameshift insertion | Novel | - | - | II | |||||
| 440 | AR | EYS | Compound hetero | 6 | 29 | c.6557G > A | p.G2186E | nonsynonymous | 10 Littink | - | - | Ι |
| 26 | c.4958_4959insA | p.S1653fs | frameshift insertion | Novel | - | - | II | |||||
| 445 | AR | PDE6B | Compound hetero | 4 | 8 | c.832C > T | p.H278Y | nonsynonymous | rs121918581 | - | - | I |
| 8 | c.767 T > A | p.I256N | nonsynonymous | Novel | - | - | II |
*Inheritance is not inferred from pedigrees of the patients. These patients stated that there is no affected individual in their family tree other than indexed patients. Inheritance pattern described the results suggested by sequencing data
In-house: Korean normal reference consisting of 192 exomes
Chr chromosome; AD Autosomal dominant; AR Autosomal recessive; X-L X-linked