Supplementary Data table 1

Variant noted to be present in 2 individuals

Variant: NM_000257.3(MYH7):c.2080C>T (p.Arg694Cys)

ClinVar: 177627, https://www.ncbi.nlm.nih.gov/clinvar/variation/177627/

gnomAD: 0.00001989, https://gnomad.broadinstitute.org/variant/14-23895255-G-A

CasePT-110: United States

CasePresentingHPOs: HP:0001639 (Hypertrophic cardiomyopathy)

HPOsFreeText: N/A

CaseNotHPOs: HP:0001650, HP:0001658 (Aortic valve stenosis, Myocardial infarction)

NotHPOsFreeText: N/A

CaseAddInfo:

CaseGenotypingMethod: DNA was collected from the participants using blood samples. 18 genes suspected on contributing to HCM were targeted and sequenced. The variants were then located and filtered for pathogenicity.

Variant: NM_000257.3:c.5326A>G (p.Ser1776Gly)

ClinVar: 177629 https://www.ncbi.nlm.nih.gov/clinvar/variation/177629/

gnomAD: East Asian 3.007e-4, Overall 4.595e-5 https://gnomad.broadinstitute.org/variant/14-23884437-T-C

Multiple Gene Variants:

MYBPC3 Variant:

Variant is reported as below, but the nucleotide sequence is incorrect. Unable to register

Variant: NM_000256.3:c.76A>G (p.Ser236Gly)