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. 2018 Oct 1;26(Suppl 1):820–1023. doi: 10.1038/s41431-018-0248-6
Gene Location Aminoacid and nucleotide change
PATIENT1
 MYH7 chr14:23893238 exon23:c.G2800A:p.A934T
PATIENT2
 MYBPC3 chr11:47364607 exon14:c.G1316A:p.G439D
 MYBPC3 chr11:47369975 exon6:c.G772A:p.E258K
PATIENT3
 MYBPC3 chr11:47353740 exon32:c.C3697T:p.Q1233X
PATIENT5
 ACTN2 chr1:236906268 exon11:c.C1180T:p.R394W