Table 4.

TNFRSF1A and other candidate genes and variants detected in their coding sequences.

Gene	GenBank ID	Exon	Nucleotide Variation	Amino Acid Variation	dbSNP Number	Public Minor Allele Frequencies (MAF)^*	MAF in Present Patients^**
TNFRSF1A	NM_001065	10	c.362 G>A	p.R121Q	Regarded as hypomorphic mutation^***		1/10
ERAP1	NM_016442	2	c.171c>t	p.Y57Y	Unreported		1/10
		2	c.380g>c	p.R127P	rs26653	C = 0.28	2/10
		5	c.828a>g	p.1276M	rs26618	G = 0.25	2/10
		6	c.1045 a>g	p.M349V	rs2287987	G = 0.24	4/10
		6	c.1068 t>c	p.A356A	rs27434	T = 0.18	1/10
		8	c.1251c>t	p.H417H	rs3213809	T = 0.01	4/10^†
		9	c.1359c>t	p.S453S	rs27529	T = 0.31	6/10
		11	c.1583a>g	p.K528R	rs30187	A = 0.30	5/10
		12	c.1723g>a	p.D575N	rs10050860	A = 0.24	3/10
		13	c.1911 g>a	p.A637A	rs469783	G = 0.39	5/10
		15	c.2174g>a	p.R725Q	rs17482078	A = 0.18	2/10
		15	c.2188c>g	p.Q729E	rs27044	C = 0.25	3/10
		17	c.2542 c>t	p.L848L	rs17481856	T = 0.12	3/10
NUCB2	NM_005013	12	c.1012c>g	p.Q338E	rs757081	C = 0.37	4/10
		13	c.1203delACA	ΔQ402	rs3842269	delACA = 0.33	1/10
RBMX	NM_02139	No variant of the coding portion of this gene has been detected
CARP2	NM_057178	No variant of the coding portion of this gene has been detected
TNFAIP3	NM_006290	No variant of the coding portion of this gene has been detected
ZFP36	NM_003407	2	c.447 G>A	p.K149K	Unreported		1/10