Supplementary Table 3. List of rare variants in ACTC1, MYBPC3, MYH6 and MYH7 genes.
Patient ID | Gene | Mutation type | AA change | Exon | Domain | Nucleotide change | dbSNP | ClinVar | AMA and ACMG recommended guidelines | SIFT | Polyphen2 | Mutation taster | 1000 Genomes ASN | ExAC ASN | Normal control (allele fre, %) |
NGS056 | ACTC1 | Missense | p.A274P | 6 | Actin | c.G820C | - | - | Uncertain significance | D | D | D | 0 | 0 | 0 |
NGS024 | MYBPC3 | Missense | p.R238H | 6 | IgC-1 | c.G713A | rs727504396 | Uncertain significance | Uncertain significance | D | D | D | 0 | 0 | 0.0004 |
NGS018 | MYBPC3 | Nonsense | p.Q508X | 16 | IgC-3 | c.C1522T | rs730880544 | Pathogenic | Likely pathogenic | T | - | A | 0 | 0 | 0 |
NGS070 | MYBPC3 | Missense | p.G835E | 24 | IgC-3 | c.2504_2505TT | - | - | Uncertain significance | - | - | D | 0 | 0 | 0 |
NGS028 | MYBPC3 | Missense | p.R470Q | 15 | IgC-3 | c.G1409A | rs776734314 | Uncertain significance | Uncertain significance | D | D | D | 0 | 0 | 0 |
NGS018 | MYBPC3 | Missense | p.P186L | 5 | IgC-1 | c.C557T | rs727503216 | Uncertain significance | Uncertain significance | D | P | D | 0 | 0.0003 | 0 |
NGS021 | MYH6 | Nonsense | p.R1923X | 38 | Myosin tail | c.C5767T | rs765861895 | Uncertain significance | Likely pathogenic | T | - | A | 0 | 0 | 0 |
NGS015 | MYH7 | Missense | p.P527S | 16 | Myosin motor | c.C1579T | rs1437377039 | - | Uncertain significance | D | P | D | 0 | 0 | 0 |