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.

GeneReferenceVariantExonsChimeric readsVariant classification

ATMNM_000051.4c.(8850+1_8855-1)_(1_?)dup62-63No3
ATMNM_000051.4c.(2466+1_2467-1)_(8850+1_8851-1)dup17-61Yes5
MSH2NM_000251.3c.(1076+1_1077-1)_(1276+1_1277-1)dup7Yes5
PMS2NM_000535.7c.(1144+1_1145-1)_(2174+1_2175-1)dup11-12Yes5