Patient No | Phenotype | Mutation 1 | Mutation 2 |
---|---|---|---|
50 | HCM | MYBPC3: c.527C>T,p.Ala176Val (VUS) | MYPN: c.411G>C,p.Arg137Ser (VUS) |
56 | HCM | BAG3: c.772C>T,p.Arg258Trp (LB) | VCL: c.133G>T, p.Ala45Ser (VUS) |
62 | HCM | PRKAG2: c.1589A>G,p.His530Arg (LP) | LAMA4: c.241C>T,p.Pro81Ser (VUS) |
87 | DCM | RBM20: c.3545G>A,p.Arg1182His (VUS) | SCN5A: c.2962C>T,p.Arg988Trp (VUS) |
92 | HCM? DCM? | VCL: c.2630C>T,p.Pro877Leu (LB) | PSEN2: c.998A>G,p.Glu333Gly (VUS) |