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. Author manuscript; available in PMC: 2016 Jan 31.
Published in final edited form as: Circ Cardiovasc Genet. 2015 Feb;8(1):64–73. doi: 10.1161/HCG.0000000000000022

Table 1.

Clinical characteristics of the lone AF patients with rare variants (MAF < 0.5% in EA in ESP6500)

Patients Exon rs ID Pos. of
variants
ECG
description
P-wave
(ms)
PR
interval
(ms)
QRS
interval
(ms)
QTc
(ms)
HR
(bpm)
Type of AF Onset
of AF
Clinical information rs6795970
(A1073)
rs12632942
(P1092)
1 E1 rs141207048 R14L SR 135 206 98 434 112 Paroxysmal 31 AVNRT V/A L/P
2 E2 rs202143516 V94G SR 119 144 102 414 57 Paroxysmal 28 Father and sister pacemaker V/A L
3 E2 rs202143516 V94G SR 94 132 84 396 64 Paroxysmal 31 Nonhemorragic stroke after AF diagnosis V/A L
4 E4
E15
rs202192818
rs139861061
Y158D
R814H
SR, SVPCs with aberration 131 186 86 418 103 Persistent 32 AF RFA times four V/A L/P
5 E4 rs75991777 c.599+1 SR 135 162 116 421 63 Paroxysmal 35 Atrial flutter, AVNRT, inducible VT and ICD. Normal coronary angiography.
Family history of SCD and AF.
A L
6 E15 rs146028829 E825D SR 110 172 72 423 84 Paroxysmal 18 AF RFA, AVNRT V/A L/P
7 E16 unknown I999L SR, IRBBB 118 160 100 412 61 Paroxysmal 35 Mother with SVPCs V/A L
8 E21 rs138832868 R1268Q SR, IRBBB 90 152 94 394 59 Paroxysmal 30 Several DC cardioversions A L/P
9 E21 rs138832868 R1268Q AF - - 92 - 96 - 23 Atrial flutter type II A L/P
10 E26 rs142217269 C1523Y SR, J-wave in II, III, aVF 119 154 96 398 54 Paroxysmal 30 Family history of AF A L
11 E27 unknown R1588Q SR 110 156 96 419 55 Paroxysmal 28 RFA for AVNRT A L/P

Positions and clinical characteristics of the patients with rare variants with minor allele frequencies (MAF) less than 0.5% in the European-American (EA) in the Exome Sequencing Project (n=6503, ESP6500) server. SR; Sinus rhythm, SVPC; Supraventricular premature complexes, IRBBB; Incomplete right bundle branch block, AF; Atrial fibrillation, AVNRT; AV-nodal reentry tachycardia, RFA; Radiofrequency ablation, ICD; Implantable cardioverter-defibrillator, VT; Ventricular Tachycardia