eISSN 2093-6338
Table. 1.
Table. 1.
Detected variants of the
| Pathogenic/LP | VUS | Total | ||||
|---|---|---|---|---|---|---|
| Patient | Variant | Patient | Variant | Patient | Variant | |
| Truncating | 177 (61.2%) | 135 (62.2%) | 0 (0%) | 0 (0%) | 177 (58.4%) | 135 (58.4%) |
| Splicing | 42 (14.5%) | 39 (18.0%) | 0 (0%) | 0 (0%) | 42 (13.9%) | 39 (16.9%) |
| Missense | 34 (11.8%) | 26 (12.0%) | 10 (71.4%) | 10 (71.4%) | 44 (14.5%) | 36 (15.6%) |
| Large del | 25 (8.7%) | 8 (3.7%) | 0 (0%) | 0 (0%) | 25 (8.3%) | 8 (3.5%) |
| In-frame del | 7 (2.4%) | 5 (2.3%) | 0 (0%) | 0 (0%) | 7 (2.3%) | 5 (2.2%) |
| In-frame dup | 0 (0%) | 0 (0%) | 1 (7.1%) | 1 (7.1%) | 1 (0.3%) | 1 (0.4%) |
| Aberrant transcript | 4 (1.4%) | 4 (1.8%) | 2 (14.3%) | 2 (14.3%) | 6 (2.0%) | 6 (2.6%) |
| Synonymous | 0 (0%) | 0 (0%) | 1 (7.1%) | 1 (7.1%) | 1 (0.3%) | 1 (0.4%) |
| Total | 289 | 217 | 14 | 14 | 303 | 231 |
Abbreviations: LP, likely pathogenic; VUS, variant of unknown significance; del, deletion; dup, duplication.
Lab Med Online 2021;11:17~24 https://doi.org/10.47429/lmo.2021.11.1.17
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