Table 3.
Case | Age | Gene | cDNA change | Function | ClinVar | gnomAD AF | hg38 coordinates |
---|---|---|---|---|---|---|---|
1 | 5 | SCN5A | c.G1231A | nonsynonymous SNV | P | . | 38606058 |
2 | 9 | CTF1 | c.G548A | stopgain | . | 3.38E-05 | 30902484 |
3 | 9 | TTN | c.38122+2T>C | splicing | VUS | 0.0001 | 178654910 |
4 | 12 | TTN | c.10600delA | frameshift deletion | no Badge entries | 8.14E-06 | 178756362 |
SNV- single nucleotide variation; P- pathogenic; VUS- variant of uncertain significance; . - not listed in database; NM numbers for cDNA variants are as follows: SCN5A, NM_000335; CTF1, NM_001142544; TTN (frameshift deletion), NM_133437; PKP2, NM_001005242