| Age at death/sex . | Circumstance of death (post-mortem findings) . | Gene and disease associated . | Amino acid change . | Frequency in UCL-ex exomes (2867 individuals) . | Frequency in NHLBI exome sequencing (6500 exomes) . | Frequency in ExAC dataset (60 706 exomes) . | Familial clinical evaluation . |
|---|---|---|---|---|---|---|---|
| 23 years/male | Daily activities (myocardial bridging of the LAD and fat infiltration of RV)* | CACNA1C BrS13,14 | P817S | 0.7 | 0.33 | 0.0194 | Parents and sibling no BrS phenotype |
| 1 year/male | Daily activities (normal heart) | LMNA DCM23–25 | R644C | 0.138 | 0.10 | 0.121 | Parents normal ECG and echo |
| 22 years/female | Sleep (normal heart) | RANGRF BrS9,17 | E61X | 0.26 | 0.42 | 0.3947 | Parents normal ECG and echo (ajmaline challenge not done) |
| 11 years/male | Exercise (normal heart) | CACNA2D1 BrS13,14 | S709N | 0.22 | 0.37 | 0.2677 | Family declined screening |
| 33 years/male | Daily activities (normal heart) | ANK2 LQT19–21 | E1837K | 0.29 | 0.31 | 0.2677 | Parents no LQT phenotype |
| 27 years/male | Daily activities (inflammatory eosinophilic infiltrate in atria)* | KCNH2 LQT6,15,16 | P347S | 0.16 | 0.0496 | 0.1293 | Parents and siblings no LQT phenotype |
| 41 years/male | Daily activities (normal heart) | MYPN HCM26 | Y20C | 0 | 0.092 | 0.091 | Parent, siblings and children normal ECG, ETT, echo, and ajmaline |
| 28 years/male | Exercise (concentric LVH, no disarray)* | RBM20 DCM27 | E1125K | 0.30 | 0.37 | 0.37 | Parents and siblings normal ECG, ETT, echo, and ajmaline |
| 14 years/male | Exercise (normal heart)* | DSP ARVC22 | A2294G | 0.12 | 0.023 | 0.085 | Parents and siblings normal ECG, ETT, echo, and ajmaline |
| 34 years/male | Sleep (normal heart) | CACNA1C BrS13 | G37R | 0.32 | 0.23 | 0.074 | Siblings positive ajmaline challenges |
| Age at death/sex . | Circumstance of death (post-mortem findings) . | Gene and disease associated . | Amino acid change . | Frequency in UCL-ex exomes (2867 individuals) . | Frequency in NHLBI exome sequencing (6500 exomes) . | Frequency in ExAC dataset (60 706 exomes) . | Familial clinical evaluation . |
|---|---|---|---|---|---|---|---|
| 23 years/male | Daily activities (myocardial bridging of the LAD and fat infiltration of RV)* | CACNA1C BrS13,14 | P817S | 0.7 | 0.33 | 0.0194 | Parents and sibling no BrS phenotype |
| 1 year/male | Daily activities (normal heart) | LMNA DCM23–25 | R644C | 0.138 | 0.10 | 0.121 | Parents normal ECG and echo |
| 22 years/female | Sleep (normal heart) | RANGRF BrS9,17 | E61X | 0.26 | 0.42 | 0.3947 | Parents normal ECG and echo (ajmaline challenge not done) |
| 11 years/male | Exercise (normal heart) | CACNA2D1 BrS13,14 | S709N | 0.22 | 0.37 | 0.2677 | Family declined screening |
| 33 years/male | Daily activities (normal heart) | ANK2 LQT19–21 | E1837K | 0.29 | 0.31 | 0.2677 | Parents no LQT phenotype |
| 27 years/male | Daily activities (inflammatory eosinophilic infiltrate in atria)* | KCNH2 LQT6,15,16 | P347S | 0.16 | 0.0496 | 0.1293 | Parents and siblings no LQT phenotype |
| 41 years/male | Daily activities (normal heart) | MYPN HCM26 | Y20C | 0 | 0.092 | 0.091 | Parent, siblings and children normal ECG, ETT, echo, and ajmaline |
| 28 years/male | Exercise (concentric LVH, no disarray)* | RBM20 DCM27 | E1125K | 0.30 | 0.37 | 0.37 | Parents and siblings normal ECG, ETT, echo, and ajmaline |
| 14 years/male | Exercise (normal heart)* | DSP ARVC22 | A2294G | 0.12 | 0.023 | 0.085 | Parents and siblings normal ECG, ETT, echo, and ajmaline |
| 34 years/male | Sleep (normal heart) | CACNA1C BrS13 | G37R | 0.32 | 0.23 | 0.074 | Siblings positive ajmaline challenges |
All variant frequencies are listed as percentages. Expert cardiac pathology review denoted with an asterisk.
| Age at death/sex . | Circumstance of death (post-mortem findings) . | Gene and disease associated . | Amino acid change . | Frequency in UCL-ex exomes (2867 individuals) . | Frequency in NHLBI exome sequencing (6500 exomes) . | Frequency in ExAC dataset (60 706 exomes) . | Familial clinical evaluation . |
|---|---|---|---|---|---|---|---|
| 23 years/male | Daily activities (myocardial bridging of the LAD and fat infiltration of RV)* | CACNA1C BrS13,14 | P817S | 0.7 | 0.33 | 0.0194 | Parents and sibling no BrS phenotype |
| 1 year/male | Daily activities (normal heart) | LMNA DCM23–25 | R644C | 0.138 | 0.10 | 0.121 | Parents normal ECG and echo |
| 22 years/female | Sleep (normal heart) | RANGRF BrS9,17 | E61X | 0.26 | 0.42 | 0.3947 | Parents normal ECG and echo (ajmaline challenge not done) |
| 11 years/male | Exercise (normal heart) | CACNA2D1 BrS13,14 | S709N | 0.22 | 0.37 | 0.2677 | Family declined screening |
| 33 years/male | Daily activities (normal heart) | ANK2 LQT19–21 | E1837K | 0.29 | 0.31 | 0.2677 | Parents no LQT phenotype |
| 27 years/male | Daily activities (inflammatory eosinophilic infiltrate in atria)* | KCNH2 LQT6,15,16 | P347S | 0.16 | 0.0496 | 0.1293 | Parents and siblings no LQT phenotype |
| 41 years/male | Daily activities (normal heart) | MYPN HCM26 | Y20C | 0 | 0.092 | 0.091 | Parent, siblings and children normal ECG, ETT, echo, and ajmaline |
| 28 years/male | Exercise (concentric LVH, no disarray)* | RBM20 DCM27 | E1125K | 0.30 | 0.37 | 0.37 | Parents and siblings normal ECG, ETT, echo, and ajmaline |
| 14 years/male | Exercise (normal heart)* | DSP ARVC22 | A2294G | 0.12 | 0.023 | 0.085 | Parents and siblings normal ECG, ETT, echo, and ajmaline |
| 34 years/male | Sleep (normal heart) | CACNA1C BrS13 | G37R | 0.32 | 0.23 | 0.074 | Siblings positive ajmaline challenges |
| Age at death/sex . | Circumstance of death (post-mortem findings) . | Gene and disease associated . | Amino acid change . | Frequency in UCL-ex exomes (2867 individuals) . | Frequency in NHLBI exome sequencing (6500 exomes) . | Frequency in ExAC dataset (60 706 exomes) . | Familial clinical evaluation . |
|---|---|---|---|---|---|---|---|
| 23 years/male | Daily activities (myocardial bridging of the LAD and fat infiltration of RV)* | CACNA1C BrS13,14 | P817S | 0.7 | 0.33 | 0.0194 | Parents and sibling no BrS phenotype |
| 1 year/male | Daily activities (normal heart) | LMNA DCM23–25 | R644C | 0.138 | 0.10 | 0.121 | Parents normal ECG and echo |
| 22 years/female | Sleep (normal heart) | RANGRF BrS9,17 | E61X | 0.26 | 0.42 | 0.3947 | Parents normal ECG and echo (ajmaline challenge not done) |
| 11 years/male | Exercise (normal heart) | CACNA2D1 BrS13,14 | S709N | 0.22 | 0.37 | 0.2677 | Family declined screening |
| 33 years/male | Daily activities (normal heart) | ANK2 LQT19–21 | E1837K | 0.29 | 0.31 | 0.2677 | Parents no LQT phenotype |
| 27 years/male | Daily activities (inflammatory eosinophilic infiltrate in atria)* | KCNH2 LQT6,15,16 | P347S | 0.16 | 0.0496 | 0.1293 | Parents and siblings no LQT phenotype |
| 41 years/male | Daily activities (normal heart) | MYPN HCM26 | Y20C | 0 | 0.092 | 0.091 | Parent, siblings and children normal ECG, ETT, echo, and ajmaline |
| 28 years/male | Exercise (concentric LVH, no disarray)* | RBM20 DCM27 | E1125K | 0.30 | 0.37 | 0.37 | Parents and siblings normal ECG, ETT, echo, and ajmaline |
| 14 years/male | Exercise (normal heart)* | DSP ARVC22 | A2294G | 0.12 | 0.023 | 0.085 | Parents and siblings normal ECG, ETT, echo, and ajmaline |
| 34 years/male | Sleep (normal heart) | CACNA1C BrS13 | G37R | 0.32 | 0.23 | 0.074 | Siblings positive ajmaline challenges |
All variant frequencies are listed as percentages. Expert cardiac pathology review denoted with an asterisk.
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