Table 2. Known HCM Genes Found in All Variants (7 patients).
| Gene | Het/hom | Effect | Nucleotide change | Amino acid change | Sample ID | Morphology | Previously reported | Ref |
|---|---|---|---|---|---|---|---|---|
| MYH7* | het | Missense | c.C5380A | p.Q1794K | H64 | RC | NA | |
| MYH7* | het | Missense | c.C3981A | p.N1327K | H33 | N | rs141764279 | 16 |
| ACTN2 | het | Missense | c.G2569C | p.D857H | H15 | N | NA | 17 |
| VCL | het | Frameshift | c.962delT | p.I321fs | H42 | A | NA | 18 |
| JPH2 | het | Splicing | c.2011-1G>T | — | H16 | A | NA | 24 |
| PLN | het | Missense | c.G145A | p.V49M | H41 | N | NA | 25 |
| MYH6 | het | Missense | c.G4727A | p.R1576Q | H04 | N | NA | 27 |
*Shows the two mutations which should had been excluded using the Sanger method in two patients. A indicates apical hypertrophy; N, neutral hypertrophy; RC, reverse curvature hypertrophy; NA, not announced.