Research Article
RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis
Table 4
Classification of large duplications by the targeted RNA panel.
| Gene | Reference | Variant | Exons | Chimeric reads | Variant classification |
| ATM | NM_000051.4 | c.(8850+1_8855-1)_(1_?)dup | 62-63 | No | 3 | ATM | NM_000051.4 | c.(2466+1_2467-1)_(8850+1_8851-1)dup | 17-61 | Yes | 5 | MSH2 | NM_000251.3 | c.(1076+1_1077-1)_(1276+1_1277-1)dup | 7 | Yes | 5 | PMS2 | NM_000535.7 | c.(1144+1_1145-1)_(2174+1_2175-1)dup | 11-12 | Yes | 5 |
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