Supplementary Data: Online Table 2a

Case:

CasePresentingHPOs: HP:0001642 (pulmonary stenosis)

CasePreviousTesting: Full sarcomere testing (MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1), Additional testing (ABCC9, ACTN2, ANKRD1, BAG3, CALR3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, GLA, JPH2, JUP, LAMA4, LAMP2, LMNA, MYH6, MYPN, MYOZ1, MYOZ2, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN5A, SGCD, TAZ, TCAP, TMEM43, TNNC1, TTN, VCL and LDB3)

CaseGenotypingMethod: DNA isolated from peripheral blood, targeted enrichment, next-gen sequencing with panel of 46 genes

Variant: NM_000257.3(MYH7):c.1325G>A (p.Arg442His)

ClinVar: 181342, https://www.ncbi.nlm.nih.gov/clinvar/variation/181342/

gnomAD: 0.00001414, https://gnomad.broadinstitute.org/variant/14-23898246-C-T