Table 2 Potential and pathogenic genes identified by whole exome sequencing and predisposed to cardiomyopathies and arrhythmias
Chr | Start | Genes | AA-Change | 1000G | SNP | SIFT | PP | LRT | MT | III:1 | II:1 |
|---|---|---|---|---|---|---|---|---|---|---|---|
chr1 | 228,504,652 | OBSCN | NM_001098623:exon51:c.G13528A:p.D4510N | – | – | D(0.011) | D(0.967) | N(0.002) | D(1) | ± | ± |
chr15 | 58,306,448 | ALDH1A2 | NM_003888:exon2:c.A149G:p.E50G | 0.002 | rs34266719 | D(0.013) | B(0.062) | D(0) | D(1) | ± | – |
chr16 | 2,329,121 | ABCA3 | NM_001089:exon29:c.G4370A:p.R1457Q | 0.001 | rs201226715 | T(0.063) | B(0.327) | D(0) | D(1) | ± | ± |
chr18 | 29,116,333 | DSG2 | NM_001943:exon11:c.T1592G:p.F531C | – | rs200484060 | D(0) | D(0.998) | D(0) | D(0.999) | ± | – |
chr2 | 189,861,158 | COL3A1 | NM_000090:exon24:c.C1697T:p.P566L | 0.006 | rs150543864 | T(0.101) | D(0.916) | N(0.003) | D(1) | ± | ± |
chr6 | 152,457,775 | SYNE1 | NM_033071:exon141:c.A25493G:p.Q8498R | 0.001 | rs529921934 | T(0.705) | D(0.974) | D(0) | D(1) | – | – |
chrX | 108,867,973 | KCNE5 | NM_012282:exon1:c.G277 T:p.E93X | 0.0026 | rs61729624 | – | – | N(0.025) | D(1) | ± | – |
chrX | 108,867,974 | KCNE5 | NM_012282:exon1:c.C276A:p.D92E | 0.0026 | rs200723915 | T(0.254) | B(0.005) | N(0.003) | N(0.99) | ± | – |