Table 2.
AF-associated loss-of-function variants in AF families
| Family | Gene | Genomic position (hg19) | Variant | Consequence | ExAC MAF | GERP score | Exon | PSI |
|---|---|---|---|---|---|---|---|---|
| E003 | TTN | 2:179640083 | c.6508 G > T | Splice site | 0 | 5.27 | 28 | 100 |
| M1023 | TTN | 2:179606008 | c. 11952 C > A | Stop-gain | 0 | 5.87 | 49 | 100 |
| M1018 | TTN | 2:179431758 | c.79101 T > A | Stop-gain | 0 | 5.62 | 327 | 100 |
| M1039 | TTN | 2:179404492 | c.98300delT | Frameshift | 8.3 × 10–6 | NA | 353 | 100 |
| M1030 | DSC2 | 18:28669558 | c.475-1 G > T | Splice site | 0 | 6.16 | (Intron 4) | NA |
AF: atrial fibrillation, ExAC: Exome Aggregation Consortium, GERP: genomic evolutionary rate profiling, PSI: percent spliced in