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. Author manuscript; available in PMC: 2022 Aug 1.
Published in final edited form as: Circ Genom Precis Med. 2021 Jul 6;14(4):e003426. doi: 10.1161/CIRCGEN.121.003426

Table 3.

Deleterious variants (DV) identified in cases

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