Table IV.
Summary of the disease mutations found in DCM patients.
| Patient no. | Gene | Gender | Nucleotide change | Amino acid change | SIFT | Ploy Phen-2 | Mutation Taster | Previously reported |
|---|---|---|---|---|---|---|---|---|
| DCM-1 | MYPN | M | c.1888G>A | p.E630K | T | B | DC | NO |
| DCM-10 | TNNT2 | M | c.539G>C | p.G180A | T | PD | DC | NO |
| DCM-12 | MYH7 | F | c.77C>T | p.A26V | NA | NA | NA | YES |
| DCM-21 | DES | F | c.1157G>A | p.R386H | NT | PD | DC | NO |
| DCM-29 | VCL | M | c.625A>T | p.M209L | T | B | DC | VUS |
| DCM-33 | MYH6 | M | c.3139C>T | p.R1047C | NT | PD | DC | NO |
| DCM-45 | RBM20 | M | c.3545G>A | p.R1182H | NT | B | DC | VUS |
| DCM-46 | TNNC1 | M | c.8A>T | p.D3V | NT | PD | DC | NO |
| DCM-7 | MYBPC3 | F | c.3371G>T | p.C1124F | T | B | DC | NO |
| DCM-55 | MYH6 | M | c.3758C>T | p.T1253M | T | PD | DC | VUS |
| DCM-11 | MYBPC3 | F | c.478C>T | p.R160W | NA | NA | NA | YES |
| DCM-13 | MYL3 | M | c.377A>G | p.D126G | NA | B | DC | NO |
NA, not applicable; T, tolerated; NT, not tolerated; B, benign; PD, probably damaging; DC, disease causing; VUS, variant of uncertain significance; DCM, dilated cardiomyopathy.