Table 1

In-house bioinformatics script results for TNNT1 CNV familial segregation analysis

ChrStartStopRegion IDLabelsI401I402I403
1955 648 42155 648 63042 609 770TNNT1NM_0 03 283–111.081.001.15
1955 649 27955 649 49242 609 771TNNT1NM_0 03 283–100.910.901.09
1955 652 20155 652 37842 609 772TNNT1NM_0 03 283–90.000.460.63
1955 652 50455 652 72042 609 773TNNT1NM_0 03 283–80.000.530.60
1955 653 17555 653 33842 609 774TNNT1NM_0 03 283–70.961.060.86
  • The in-house bioinformatics script for CNV analysis showed a ratio relative coverage of 0 for TNNT1 exon 8 and exon 9 in I401 sample (patient 1), in agreement with the homozygous deletion, 0.53 and 0.46, respectively, in I402 sample (father), and 0.60 and 0.63, respectively, in I403 sample (mother), in agreement with a heterozygous deletion of these exons in parents.

  • CNV, copy number variation; TNNT1, Troponin T type 1.