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. 2022 Oct 18;11:e77327. doi: 10.7554/eLife.77327

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)