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Sarcomeric mutation frequency in adults and children
| Gene | Number of mutations identified (adults) (%) | Number of mutations identified (children) (%) |
|---|---|---|
| MYBPC3 | 29 (54) | 13 (38) |
| MYH7 | 12 (22) | 11 (32) |
| TNNT2 | 6 (11) | 4 (12) |
| TNNI3 | 3 (5) | 2 (6) |
| TPM1 | 2 (5) | 2 (6) |
| MYL2 | 2 (5) | 2 (6) |
| Total | 54 (100) | 34 (100) |
Includes pathogenic and likely pathogenic mutations in patients with and without clinical HCM at the time of testing
