Table 3.

Detected variant alleles at verification, analytical validation and clinical validation steps in patients with AID.

	Variant Type		AA Change	dbSNP Code	Exon number	Number of Variant Allele at Verification (n=21)	Number of Variant Allele at Analytical Validation (n=10)	Number of Variant Allele at Clinical Validation (n=46)	Total Number of Variant Allele
MEFV	Nonsynonymous	SNV	E148Q	rs3743930	2			3	50
			G304R	rs75977701	2			1
			R202Q	rs224222	2		1	23
			P369S	rs11466023	3			3
			R408Q	rs11466024	3			3
			M680I*	rs28940580	10		1	2
			M694V*	rs61752717	10		1	7
			V726A	rs289940579	10		1	2
			A744S	rs61732874	10			2
	Synonymous	SNV				59	32	170	261
	UTR	SNV				63	22	91	176
		Insertion				12	6	28	46
		Deletion				9	4	18	31
	Intronic	SNV				204	57	619	880
		Insertion				5	4	19	28
		Deletion				40	8	101	149
MVK	Nonsynonymous	SNV	P11L	rs876661001	2			1	17
			S52N*	rs7957619	3		4	12
	Synonymous	SNV				3	4	20	27
	UTR	SNV				6	5	35	46
		Insertion				3	2	12	17
		Deletion							0
	Intronic	SNV				210	122	698	1030
		Insertion				3	2	25	30
		Deletion				41	23	135	199
TNFRSF1A	Nonsynonymous	SNV	R92Q*	rs4149584	4		1		1
	Synonymous	SNV				8	5	27	40
	UTR	SNV							0
		Insertion						4	4
		Deletion						2	2
	Intronic	SNV				72	30	177	279
		Insertion				3		9	12
		Deletion				7	4	16	27
NLRP3	Nonsynonymous	SNV	Q703K*	rs35829419	3		3	6	9
	Synonymous	SNV				27	20	101	148
	UTR	SNV				40	28	134	202
		Insertion				11	10	38	59
		Deletion				10	5	38	53
	Intronic	SNV				518	254	1650	2422
		Insertion				65	27	163	255
		Deletion				103	44	304	451
PSTPIP1	Nonsynonymous	SNV	A196V*	rs370965231	9		1		1
	Synonymous	SNV						3	3
	UTR	SNV						1	1
		Insertion				1		3	4
		Deletion						1	1
	Intronic	SNV				17		64	81
		Insertion				3	4	9	16
		Deletion				2		3	5
IL1RN	Synonymous	SNV				2	4	5	11
	UTR	SNV				5	6	13	24
		Insertion							0
		Deletion				1		1	2
	Intronic	SNV				65		147	212
		Insertion				3		6	9
		Deletion						3	3
NOD2	Nonsynonymous	SNV	P268S	rs2066842	4		2	3	18
			R676C	rs5743277	4			1
			G775D*	16:50712235 (GRCh38)	4		1
			M491L	16:50711382 (GRCh38)	4			3
			N852S	rs104895467	6			1
			G908R	rs2066845	8			1
			V955I*	rs5743291	9		3	3
	Synonymous	SNV				4	9	16	29
	UTR	SNV				4	12	21	37
		Insertion							0
		Deletion							0
	Intronic	SNV				23	24	92	139
		Insertion				1		4	5
		Deletion				5	4	12	21
NLRP12	Nonsynonymous	SNV	N394K*	rs201241894	3		1		1
	Synonymous	SNV				4	7	15	26
	UTR	SNV				2		2	4
		Insertion							0
		Deletion				1	2	3	6
	Intronic	SNV				78	14	166	258
		Insertion				10	1	2	13
		Deletion				17		13	30
LPIN2	Nonsynonymous	SNV	E601K	rs61735393	14		1		2
		SNV	P348L*	rs34676691	7		1
	Synonymous	SNV						2	2
	UTR	SNV				10	16	23	49
		Insertion				2	4	3	9
		Deletion							0
	Intronic	SNV				34		60	94
		Insertion				1			1
		Deletion				10		6	16

*Known variations (AA change) in analytical validation of multiplex model.