Table 2.
Genomic variants found in Subject B.
| Gene | Variant | Consequence | Association | Zygosity |
|---|---|---|---|---|
| PRKAG2 | SNV | Missense | Pathogenic | Heterozygous |
| c.905G>A | ||||
| p.(Arg302Gln) | ||||
| TTN | SNV | Missense | Variant of uncertain significance | Heterozygous |
| c.8056A>G | ||||
| p.(Ile2686Val) |
Genomic variants found in Subject B.
| Gene | Variant | Consequence | Association | Zygosity |
|---|---|---|---|---|
| PRKAG2 | SNV | Missense | Pathogenic | Heterozygous |
| c.905G>A | ||||
| p.(Arg302Gln) | ||||
| TTN | SNV | Missense | Variant of uncertain significance | Heterozygous |
| c.8056A>G | ||||
| p.(Ile2686Val) |