Table 2.
Pathogenic and likely pathogenic truncating variants or in-frame insertions/deletions in Chinese DCM cohort (22 variants).
| Gene | Transcript | Exon | Nucleotide Change | Amino Acid Change | Effect | Publication | MAF gnomAD | MAF ExAC | TTN band |
|---|---|---|---|---|---|---|---|---|---|
| ADRB1 | NM_000684 | 1 | c.763_764delGT | p.255_255delV | Frameshift | — | 0 | 0 | — |
| ANK2 | NM_001148 | 38 | c.5772_5773insAAAAC | p.K1924fs | Frameshift | — | 0 | 0 | — |
| CBL | NM_005188 | 9 | c.1363_1364insATG | p.Y455delinsYD | Nonframeshift | — | 0 | 0 | — |
| EMD | NM_000117 | 6 | c.596 C > G | p.S199X | Nonsense | — | 0 | 0 | — |
| LMNA | NM_170707 | 8 | c.1477 C > T | p.Q493X | Nonsense | — | 0 | 0 | — |
| LMNA | NM_170707 | 9 | c.1590delC. | p.L530fs | Frameshift | — | 0 | 0 | — |
| MYBPC3 | NM_000256 | 24 | c.2541 C > G | p.Y847X | Nonsense | Yes | 0 | 0 | — |
| NEXN | NM_144573 | 12 | c.1587_1589delAAG | p.529_530del | Nonframeshift | — | 0 | 0 | — |
| TTN | NM_001267550 | 352 | c.98650_98651insT | p.S32884fs | Frameshift | Yes | 0 | 0 | A band |
| TTN | NM_001267550 | 258 | c.48325_48326insT | p.L16112fs | Frameshift | — | 0 | 0 | A band |
| TTN | NM_001267550 | 326 | c.78749 T > A | p.L26250X | Nonsense | — | 0 | 0 | A band |
| TTN | NM_001267550 | 335 | c.89855delT | p.L29952fs | Frameshift | — | 0 | 0 | A band |
| TTN | NM_001267550 | 358 | c.101000_101001delAT | p.Y33667fs | Frameshift | — | 0 | 0 | A band |
| TTN | NM_001267550 | 342 | c.94931delA | p.E31644fs | Frameshift | — | 0 | 0 | A band |
| TTN | NM_001267550 | 274 | c.52154 C > A | p.S17385X | Nonsense | — | 0 | 0 | A band |
| TTN | NM_001267550 | 248 | c.46051delA | p.R15350fs | Frameshift | — | 0 | 0 | I band |
| TTN | NM_001267550 | 49 | c.14251delT | p.S4751fs | Frameshift | — | 0 | 0 | I band |
| TTN | NM_001267550 | 255 | c.47843_47844insT | p.I15948fs | Frameshift | — | 0 | 0 | A band |
| TTN | NM_001267550 | 246 | c.45550 C > T | p.Q15184X | Nonsense | — | 0 | 0 | I band |
| TTN | NM_001267550 | 226 | c.41377delG | p.V13793fs | Frameshift | — | 0 | 0 | I band |
| TTN | NM_001267550 | 326 | c.71024_71027del | p.23675_23676del | Frameshift | — | 0 | 0 | A band |
| VCL | NM_003373 | 6 | c.632delT | p.I211fs | Frameshift | — | 0 | 0 | — |