Number of distinct rare variants in sarcomeric, Z-disc and calcium-handling genes
| Genes | Total number of distinct rare variants in each gene | Published | Novel | |
|---|---|---|---|---|
| Misssense variants predicted to be pathogenic in silico | Nonsense, frameshift or splice-site variants predicted to cause loss of function | |||
| Sarcomere genes | ||||
| MYBPC3 | 46 | 23 | 2 | 17 |
| MYH7 | 31 | 21 | 9 | |
| TNNI3 | 5 | 4 | 1 | |
| TNNT2 | 9 | 8 | 1 | |
| MYL2 | 3 | 2 | 1 | |
| MYL3 | 2 | 2 | ||
| ACTC1 | 1 | 1 | ||
| TPM1 | 5 | 1 | 3 | 1 |
| MYH6 | 19 | 1 | 8 | 2 |
| TTN | 219 | 1 | 9 | |
| TNNC1 | 0 | |||
| Subtotal | 339 | 61 | 27 | 30 |
| Z disc/related, calcium handling | ||||
| PLN | 4 | 1 | ||
| CSRP3 | 3 | 1 | 1 | 1 |
| TCAP | 2 | 1 | ||
| LDB3 | 2 | 1 | ||
| VCL | 6 | 1 | ||
| PDLIM3 | 2 | |||
| DES | 3 | 1 | 1 | |
| LMNA | 1 | 1 | ||
| RBM20 | 9 | 1 | 4 | |
| Subtotal | 32 | 3 | 10 | 2 |
| Total | 371 | 64 | 37 | 32 |