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. 2024 Apr 2;2024:4830045. doi: 10.1155/2024/4830045

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