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. 2015 Mar 26;10(3):e0121889. doi: 10.1371/journal.pone.0121889

Table 1. AT mutations, phenotypic and genotypic features identified in Indian DVT patients.

Patient ID No. Subject Exon/ Intron Change Identified Type of AT deficiency APTT/ PT/TT (seconds) 1 Age of first thrombosis/ Sex Clinical features AT activity (%) AT antigen (%)
FI I:2 786G I 12.33, 5.00, 14.00 NA/M Asymptomatic 55 40
II:1 Intron 1 786A I 8.00, 6.00, 18.33 20/M RecurrentDVT 52 40
II:2 Intron 1 786A I 12.33, 7.00, 15.00 19/M RecurrentDVT 55 39
FII I:2 Exon 2 2603C> T II 7.50, 10.00, 19.00 NA /F Asymptomatic 28 100
II:1 Exon 2, 6 2603T> C, 13363insA II 6.33, 10.00, 20.00 28/F DVT 57 94
II:5 Exon 2, 6 2603T> C, 13363insA II 9.00, 11.00, 8.00 NA /F Asymptomatic 75 100
II:6 Exon 2, 6 2603T> C, 13363insA II 15.66, 7.00, 18.50 NA /M Asymptomatic 68 100
PRS - Exon 2 2455C>A I 14.00, 12.00, 8.00 52/M DVT 65 60
PSh - Intron 5 9893 G>C I 9.00, 6.00, 8.00 12/M DVT 69 50
PRn - Exon 4 7549 A>G II 9.00, 13.00, 15.50 30/F DVT 53 96
PRa - Exon 4 7626A>G I 6.00, 6.00, 15.50 35/F Recurrent DVT 75 52
PSBe - Exon 4, Intron 1 7626G>A 786G>A I 7.00, 4.00, 11.33 23/F RecurrentDVT 6 65
PSa - Exon 4, Intron 1 7626G>A 786G>A II 6.30, 7.00, 12.00 24/F Recurrent DVT 77 83
PSB - Exon 4 7626A>G I 10.00, 7.00, 10.00 34/M ACD 2 with chronic BCS 3 77 75
PNJ - Exon 4 7626A I 9.50, 13.00, 8.00 26/F Recurrent DVT 65 79

1 Normal laboratory ranges: APTT; 25s, PT; 13s and TT; 16s

2 Acute Coronary Disease

3 Budd Chiari Syndrome