Table 8.
Assessment of the frequency of the identified candidate variants in control population data. Abbreviations: Alt; Alternative; HGVD, Human Genetic Variation Database; ExAC (EAS), East Asian (EAS) population database in the Exome Aggregation Consortium (ExAC) Database. Bold text indicates a significant difference between cases and controls from the ExAC (EAS).
| Identified variants | Cases n = 12 | ExAC (EAS) n = 4327 | Fisher's exact test p‐value | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Alt Number | Hemizygote Number | Allele Number | Homozygote Number | Alt Number | Hemizygote Number | Allele Number | Homozygote Number | ||
| Known variants | |||||||||
| LDB3 p.Asp673Asn | 1 | — | 24 | 0 | 14 | — | 8654 | 0 | 0.0407 |
| DSC2 p.Thr275Met | 1 | — | 24 | 0 | 0 | — | 8638 | 0 | 0.0028 |
| KCNE1 p.Asp85Asn | 1 | — | 24 | 0 | 48 | — | 8636 | 0 | 0.1275 |
| SCN5A p.Arg1193Gln | 3 | — | 24 | 0 | 461 | — | 6498 | 17 | 0.2415 |
| MYBPC3 p.Thr1046Met | 1 | — | 24 | 0 | 5 | — | 8584 | 0 | 0.0166 |
| DSC2 p.Gly790del | 2 | — | 24 | 0 | 153 | — | 8642 | 1 | 0.0679 |
| Potential rare variants | |||||||||
| MYH6 p.Ala822Thr | 1 | — | 24 | 0 | 18 | — | 8648 | 0 | 0.0513 |
| DSP p.Leu2628Pro | 1 | — | 24 | 0 | 16 | — | 8634 | 0 | 0.0461 |
| DSG2 p.Pro927Leu | 1 | — | 24 | 0 | 32 | — | 8624 | 0 | 0.0878 |
| DMD p.Arg395Gly | 1 | 1 | 17 | 0 | 16 | 5 | 6632 | 0 | 0.0426 |
| ANK2 p.Ser105Thr | 1 | — | 24 | 0 | — | — | — | — | |
| ANK2 p.Glu1934Val | 1 | — | 24 | 0 | 0 | — | 8608 | 0 | 0.0028 |