Table 3.
All class 3 variants in the top 5 DCM‐candidate genes
| Gene | Nucleotide change | Amino acid change | PhyloP | CADD_PHRED | Grantham Score | gnoMAD | Classa |
|---|---|---|---|---|---|---|---|
| ALPK3 | c.4447C > T | p.Arg1483Trp | 0.104 | 18.9 | 101 | 7/246240 | 3 |
| CMYA5 | c.8161A > T | p.Lys2721* | 2.513 | 49 | 1,000 | 2/276328 | 3 |
| CMYA5 | c.8885T > G | p.Ile2962Ser | 6.939 | 19.61 | 142 | 0 | 2/3 |
| PDLIM5 | c.189_190delinsGG | p.Leu64Glyfs*15 | 1.665 | 19.85 | 1,000 | 0 | 3 |
| PDLIM5 | c.1333C > T | p.Arg445* | 1.874 | 40 | 1,000 | 1/30906 | 3 |
| SPEG | c.437G > C | p.Arg146Pro | 2.477 | 17.55 | 103 | 0 | 3 |
| SPEG | c.7442C > T | p.Ser2481Leu | 3.364 | 10.74 | 145 | 1/30942 | 2/3 |
| SPEG | c.7442C > T | p.Ser2481Leu | 3.364 | 10.74 | 145 | 1/30942 | 2/3 |
| SYNM | c.1929G > A | p.Val643Ile | 4.667 | 24.9 | 0 | 8/277020 | 2/3 |
| SYNM | c.2838C > T | p.Arg946Trp | 1.89 | 19.32 | 0 | 19/266622 | 2/3 |
a
Classification according to the ACMG guidelines.