Author response table 1. Identification of the DNAJB6 variant from patients with sick sinus syndrome (n=162).
Nucleotide change (protein change) | Genotyoe frequency | ExAC MAF frequency (%) | Clinical phenotype | SIFT prediction (score) | PolyPhen Prediction (score) |
---|---|---|---|---|---|
c.145G>T (p.V49L) | 0/8600 (EVS) 1/95768 (ExAC) 1/140242 (GnomAD) 1/162 (SSS) |
0 | Sick Sinus syndrome | Tolerate (o.142) | Damaging (0.972) |