Clinical and laboratory manifestations and treatment of children with TNFRSF1A gene variants

Table 1 Variants of the TNFRSF1A gene identified based on molecular genetic research data, n (%)

Number of patients (n = 33)	Number of options (n = 35)	Nucleotide and protein variants of the gene TNFRSF1A (NM_001065.4)	Population frequency of the minor allele, gnomAD v.4.1.0	Description in the literature in patients with AIDs
1 (3)	1 (2.9)	c.337_339del, p.Glu113del in a heterozygous state	No data	Not described
1 (3)	1 (2.9)	c.362G>A, p.Arg121Gln in a homozygous state	1.5%	[17-19]
24 (73)	24 (68.3)	c.362G>A, p.Arg121Gln in a heterozygous state	1.5%	[17-19]
1 (3)	1 (2.9)	c.792del, p.Lys265Serfs*87 in a heterozygous state	No data	Not described
1 (3)	2 (5.7)	c.362G>A, p.Arg121Gln in a heterozygous state	1.5%	[17-19]
		c.242G>T, p.Cys81Phe in a heterozygous state	No data	Not described
1 (3)	1 (2.9)	c.596T>C, p.Ile199Thr in a heterozygous state	0.006%	[20,21]
1 (3)	1 (2.9)	c.374G>A, p.Cys125Tyr in a heterozygous state	No data	[3]
1 (3)	1 (2.9)	c.184T>A, p.Cys62Ser in a heterozygous state	No data	Not described
1 (3)	2 (5.7)	c.472+6С>Т, p.? in a heterozygous state	0.003%	[3]
		c.362G>A, p.Arg121Gln in a heterozygous state	1.5%	[17-19]
1 (3)	1 (2.9)	c.194-14G>A, p.? in a heterozygous state	0.02%	[22]

AID: Autoinflammatory disease.