. Author manuscript; available in PMC: 2019 Oct 24.

Published in final edited form as: Mol Genet Genomics. 2019 Apr 17;294(4):1059–1071. doi: 10.1007/s00438-019-01567-7

Table 1.

List of SCN4B variants identified by HRM analysis in patients with VT

Variant	Exon	Variant (nt)^a	Variant (aa)	Mutation type	Number of carriers	DbSNP ID#
1	1	22 G > A	Gly8Ser	Nonsynonymous	4	rs149868494
2	2	174 A > G	Cys58Cys	Synonymous	5	rs45539032
3	3	433 G > T	Ala145Ser	Nonsynonymous	1	–
4	5	694 A > G	–	3’-UTR	1	rs79071006

nt nucleotide, aa amino acid

Variant denoted at the nucleotide level