Table 1

Different Truncating Mutations in the MYBPC3 Gene

No. of Identified MutationsMutation MYBPC3nType of Mutation
1c.2373dup (p.Trp792ValfsX41)94Frameshift/truncating
2c.2864-2865del(p.Pro955ArgfsX95)11Frameshift/truncating
3c.2827C>T (p.Arg943X)24Truncating
4c.3776del (p.Gln1259ArgfsX39)2Frameshift/truncating
5c.2893C>T (p.Gln965X)1Truncating
6c.3258dup (p.Lys1087GlufsX62)1Frameshift/truncating
7c.932C>A (p.Ser311X)1Truncating
8c.897del (p.Lys301ArgfsX49)2Frameshift/truncating
9c.676-701dup (p.Gly235Serfs74X)1Frameshift/truncating
10c.989del (Pro330HisfsX20)1Frameshift/truncating
11c.2149-?_2737+? (pLys716fsX)1Frameshift/truncating
12c.3181C>T (p.Gln1061X)1Truncating
Total140