Additional file 3 of Genetic characterization of dilated cardiomyopathy patients undergoing heart transplantation in the Chinese population by whole-exome sequencing

Abstract

Additional file 3: Table S1. Quality control statistics for sequencing. DCM, dilated cardiomyopathy; Q20, percentage of bases with a Phred score greater than 20 to the total bases; Q30, percentage of bases with a Phred score greater than 30 to the total bases. Table S2. The number of variants carried by each DCM patient before and after filtering. DCM, dilated cardiomyopathy. Table S3. Rare variants in high evidence genes identified in the Fuwai DCM HTx cohort. One TTN variant (NM_133379:exon46:c.C12949T:p.Q4317X) was predicted to be VUS since it affects only the Novex-3 isoform. Bold PMID represents the paper focused on the HTx patients. ACMG/AMP, American College of Medical Genetics and Genomics and the Association for Molecular Pathology; ACTC1, actin alpha cardiac muscle 1; ACTN2, actinin alpha 2; B, benign; BAG3, BAG cochaperone 3; DCM, dilated cardiomyopathy; DES, desmin; DSP, desmoplakin; FLNC, filamin C; HTx, heart transplantation; JPH2, junctophilin 2; LB, likely benign; LMNA, lamin A/C; LP, likely pathogenic; MYH7, myosin heavy chain 7; NEXN, nexilin F-actin binding protein; P, pathogenic; PLN, phospholamban; RBM20, RNA binding motif protein 20; SCN5A, sodium voltage-gated channel alpha subunit 5; TNNT2, troponin T2, cardiac type; TTN, titin; VUS, variant of unknown significance. Table S4. The clinical characterization of DCM in relation to P/LP variant status. Continuous variables are expressed as the mean ± SD values, and all categorical variables are depicted using relative frequency distributions. Disease course: months from symptom onset to heart transplantation. AF, atrial fibrillation; BAG3, BAG cochaperone 3; BMI, body mass index; DCM, dilated cardiomyopathy; FLNC, filamin C; IVS, interventricular septum; LAD, left atrial diameter; LMNA, lamin A/C; LP, likely pathogenic; LVEDD, left ventricular end-diastolic dimension; LVEF, left ventricular ejection fraction; NYHA, New York Heart Association classification; P, pathogenic; RVD, right ventricle diameter; TTN, titin. P value < 0.05 = *, < 0.01 = **. Table S5. Clinical characterization of DCM in patients with one P/LP variant and those with more than one P/LP variant. Continuous variables are expressed as the mean ± SD values, and all categorical variables are depicted using relative frequency distributions. Disease course: months from symptom onset to heart transplantation. AF, atrial fibrillation; BMI, body mass index; DCM, dilated cardiomyopathy; IVS, interventricular septum; LAD, left atrial diameter; LP, likely pathogenic; LVEDD, left ventricular end-diastolic dimension; LVEF, left ventricular ejection fraction; NYHA, New York Heart Association classification; P, pathogenic; RVD, right ventricle diameter