Table 5 of
Iwanami, Mol Vis 2019; 25:766-779. Table 5 of
Iwanami, Mol Vis 2019; 25:766-779.
Table 5. Copy number variations analysis on patients carrying a single heterozygous variant.
| Variant | No. of patients | Patient ID | Copy number variations | ||
|---|---|---|---|---|---|
| Allele 1 | Sum | with CNVs | Exon | DNA change | |
| JV1 | 20 | 4 | RP241 | Exon 1-Intron 1 | Deletion |
| RP239 | Exon 31 | Deletion | |||
| KRP077 | Exon 33 | Deletion | |||
| KRP190 | Exon 39-Exon 42 | Duplication | |||
| JV2 | 12 | 2 | RP177 | Exon 1 | Deletion |
| RP250 | Exon 33 | Deletion | |||
| JV3 | 18 | 0 | - | - | - |
| JV4 | 2 | 1 | KRP054 | Exon 6-Exon 8 | Deletion |
| JV5 | 1 | 0 | - | - | - |
| Total | 53 | 7 | |||