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. 2023 Nov 28;20(11):824–828. doi: 10.26599/1671-5411.2023.11.001

Table 1. Genetic testing results of the patient.

Gene Transcript number Exon Nucleotide change Amino acid change Variant Type ACMG in InterVar[6]
RYR2 NM_001035 6 c.310A > T p.Thr104Ser Missense Uncertain_significance
TMEM43 NM_024334 4 c.346C > T p.Arg116Trp Missense Uncertain_significance
SCN5A NM_000335 27 c.4540-75T > G - Missense NA
SCN5A NM_000335 16 c.2787+29nsACACACACACACACACACAC - Indel NA