Table 2.
Variants identified by WES in combination with arrhythmia‐related gene‐filtering in this family
| Chr | POS | RB | AB | Gene Name | AA Change | MutationTaster | Polyphen‐2 | SIFT |
|---|---|---|---|---|---|---|---|---|
| 1 | 100330094 | A | G | AGL | NM_000645:exon3:c.A562G:p.K188E | Disease causing (0.9999) | BENIGN (0.053) | Tolerated (0.62) |
| 3 | 32188173 | C | T | GPD1L | NM_015141:exon5:c.C565T:p.R189X | Disease causing (1) | – | – |
| 4 | 114278984 | G | A | ANK2 | NM_001148:exon38:c.G9210A:p.M3070I | Polymorphism (0.7823) | PROBABLY DAMAGING (0.961) | Damaging (0.05) |
| 6 | 76540265 | A | G | MYO6 | NM_001300899:exon5:c.391 + 3A>G | Disease causing (1) | – | – |
| 6 | 152558082 | G | A | SYNE1 | NM_033071:exon108:c.C19856T:p.T6619M | Disease causing (0.9992) | BENIGN (0.161) | Tolerated (0.24) |
| 7 | 91690697 | G | A | AKAP9 | NM_005751:exon23:c.G5725A:p.A1909T | Disease causing (0.9999) | PROBABLY DAMAGING (0.998) | Tolerated (0.00) |
| 18 | 29101215 | CTT | C | DSG2 | – | Polymorphism (0.9999) | – | – |
| X | 32404572 | T | C | DMD | NM_004011:exon5:c.A506G :p.K169R | Disease causing (0.9876) | PROBABLY DAMAGING (0.994) | Tolerated (0.1) |
| 1 | 116268178 | GAAA | G | CASQ2 | – | Disease causing (0.9999) | – | – |
| 1 | 116268178 | GAAAAA | G | CASQ2 | – | Disease causing (0.9999) | – | – |
CHR: Chromosome; POS: position; RB: reference sequence base; AB: alternative base identified.