Table 2 Genetic variants found in 136 out of 234 tested individuals, classified by type and allelic state.
From: Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy
Variant type | Hemizygous | Heterozygous | Homozygous | Total |
|---|---|---|---|---|
Large deletions/insertions | 2 | 2 | ||
Missense | 153 | 9 | 162 | |
Nonsense | 20 | 1 | 21 | |
Small deletions/insertions | 4 | 24 | 4 | 32 |
Splicing | 1 | 18 | 19 | |
Total | 5 | 217 | 14 | 236 |
