Table 3.
Pathogenic and likely pathogenic variants present in multiple DCM families
| Gene | Transcript | Genomic location | Nucleotide change | Amino acid change | Calls (N) | ExAC (N) | P-value |
|---|---|---|---|---|---|---|---|
| LMNA | ENST00000368300 | 1:156100478 | c.427T>C | p.Ser143Pro | 3 | 0/3372 | 7.3E−05 |
| DSP | ENST00000379802 | 6:7583804 | c.6310delA | p. Thr2104Glnfs*12 | 6 | 2/3372 | 1.5E−07 |
| TTN | ENST00000589042 | 2:179453719 | c.62733G>A | p.Trp20911* | 3 | 0/3372 | 7.3E−05 |
| TTN | ENST00000589042 | 2:179419765 | c.88421G>A | p.Trp29474* | 3 | 0/3372 | 7.3E−05 |
DCM, dilated cardiomyopathy.