Skip to main content

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

* Coding reference used in this table: ACTC1, NM_005159; MYBPC3, NM_000256; MYH6, NM_002471; MYH7, NM_000257.

A, disease causing automatic, D, Deleterious/Disease causing; P, probably damaging; T, tolerated.