Candidate variants present in multiple HCM cases for which the single nsSNP case-control p value between HCM cases and UK10K controls is p<0.05
| Gene | Amino acid change | Calls (n) | Frequency in patients | UK10K MAF | p Value | dbSNP135 | Published as disease-causing |
|---|---|---|---|---|---|---|---|
| MYBPC3 | NM_000256:c.G1484A:p.R495Q | 3 | 0.008333333 | 0 | 0.001833766 | Not present | Yes |
| TNNT2 | NM_001001432:c.C296T:p.A104V | 3 | 0.008333333 | 0 | 0.001833766 | Not present | Yes |
| MYH7 | NM_000257:c.G1988A:p.R663H | 3 | 0.008333333 | 0 | 0.001833766 | Not present | Yes |
HCM, hypertrophic cardiomyopathy; MAF, minimum allele frequency; nsSNPs, non-synonymous single nucleotide polymorphism.