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. 2022 Oct 30;50:145–158. doi: 10.1016/j.jare.2022.10.012

Table 1.

Descriptive information of the study participants. Column 5 indicates whether the mutation affecting SERPINC1 was found with aCGH. The last three columns indicate whether CuteSV, NanoVar, Sniffles, and SVIM, in this order, found the mutation affecting SERPINC1 after the indicated aligner. Abbreviations: DVT: deep venous thromboembolism, CSVT: central sinovenous thrombosis WGD: whole SERPINC1 gene deletion, ex: exon, DEL: deletion, DUP: duplication. Column 5 indicates whether the mutation affecting SERPINC1 was found with aCGH. NA19240 is external to the study and does not suffer, to the best of our knowledge, AT-deficiency. Anti-FXa is “anti-factor Xa activity”, a measure of antithrombin activity expressed as a percentage of the reference value obtained in a pool of 100 healthy blood donors.

lra Minimap2 NGMLR
Patient Thrombosis Anti-FXa (%) MLPA Detected by aCGH CNVs detected by aCGH CuteSV/Sniffles/SVIM CuteSV/NanoVar/Sniffles/SVIM CuteSV/NanoVar/Sniffles/SVIM
P1 DVT (21 y.o.) 42 WGD N 11 N, N, N Y, Y, Y, Y Y, Y, Y, Y
P2 ND 45 WGD Y 10 N, N, N N, N, N, Y N, N, Y, Y
P3 ND 45 DEL ex. 1–5 Y 14 N, N, N N, N, Y, Y Y, N, Y, Y
P4 CSVT 30 DEL ex. 1 N 11 Y, Y, N Y, Y, Y, Y Y, Y, Y, Y
P5 Arterial 57 WGD N 7 N, N, N Y, N, Y, Y N, N, Y, Y
P6 DVT 61 DUP ex. 1–5 N 17 N, N, N N, N, N, N N, N, N, N
P7 DVT 52 DEL ex. 2–5 N 14 Y, Y, Y N, Y, N, Y Y, Y, Y, Y