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) |