Table 1.
P/LP mutations associated with cardiomyopathy found in the FinHCM Genetic Study (n = 382)
| Gene | Nucleotide change | Amino acid change | No. of patients with variant, n (%) | Class (ClinVar) | Allele count in Finns (gnomAD) | Allele count in European (non‐Finnish) (gnomAD) |
|---|---|---|---|---|---|---|
| GLA | c.658C>T | p.Arg220Ter | 1 | P | NA | NA |
| c.1228A>G | p.Thr410Ala | 1 | P | NA | NA | |
| MYBPC3 | c.655‐2A>Ca | 3 | NAb | NA | NA | |
| c.927‐2A>G | 1 | P | 0/3494 | 1/14 966 | ||
| c.1227‐13G>Aa | 3 | LP | NA | NA | ||
| c.1358dupC | p.Val454fs | 1 | P/LP | NA | NA | |
| c.1505_1509delGGTTC | p.Arg502fs | 3 | LP | NA | NA | |
| c.1575T>G | p.Tyr525Ter | 2 | P/LP | NA | NA | |
| c.2373dupG | p.Trp792Valfs | 4 | P | 0/17 280 | 3/67 494 | |
| c.2556_2557delCGinsTCTa , c | p.Gly853Leufs | 4 | P | NA | NA | |
| c.3181C>Ta | p.Gln1061Ter | 43 (11.3) | P | 3/16 578 | 0/126 472 | |
| c.3190+5G>A | 5 | P/LP | 0/12 874 | 2/111 318 | ||
| c.3296_3297delGG; c.3295dupG | p.Gly1099fs/p.Tyr1100fs | 1 | P/LP | 3/19 554 | 0/94 384 | |
| MYH7 | c.1178C>T | p.Ala393Val | 1 | LP | NA | NA |
| c.1816G>A | p.Val606Met | 10 (2.6) | P/LP | 0/3492 | 1/14 998 | |
| c.1987C>T | p.Arg663Cys | 1 | P/LP | NA | NA | |
| c.2155C>Ta | p.Arg719Trp | 1 | P | 0/3492 | 1/14 998 | |
| c.2207T>C | p.Ile736Thr | 1 | P | NA | NA | |
| c.2539_2541delAAG | p.Lys847Del | 2 | LP | NA | NA | |
| c.2770G>A | p.Glu924Lys | 2 | P/LP | NA | NA | |
| c.3158G>Aa | p.Arg1053Gln | 30 (7.9) | LP | 17/25 794 | 0/126 704 | |
| MYL2 | c.173G>A | p.Arg58Gln | 1 | P/LP | 2/22 298 | 0/111 682 |
| PRKAG2 | c.905G>A | p.Arg302Gln | 1 | P | NA | NA |
| TPM1 | c.523G>Aa | p.Asp175Asn | 24 (6.3) | P | 4/25 748 | 1/126 700 |
| Total | 146 (38.2) |