TABLE 2.

Summary of Putative Channelopathic Mutations and Channelopathy-Positive SUD Cases^a

Case No.	Sex	Age (y)	Ethnicity	Gene	Exon	Nucleotide change	Mutation (amino acid change)	Nonsynonymous polymorphisms	SUD event	Sentinel event	Family history
1	M	3	W	KCNQ1	1	332 A>G	Y111C		Sleep	SUD	Positive for syncope
2	F	21	W	KCNQ1	3	del488T	L163FS/X236b	T8A-KCNE2	Nonspecific	Syncopec	Negative
3	M	17	W	KCNQ1	3	del572_576	L191FS/90		Sleep	SUD	Negative
4	M	20	W	KCNQ1	3	592 A>G	I198V		Sleep	SUD	Negative
5	F	43	W	KCNQ1	6	805 G>A	G269S		Exertion	SUD	Negative
6	M	22	W	KCNQ1	6	905 C>T	A302V	G1886S-RYR2	Sleep	Seizures	Negative
7	F	8	W	KCNQ1	7	935 C>T	T312I		Exertion	SUD	Positive for SCDc
8	M	24	W	KCNQ1	7	1022 C>A	A341E		Sleep	SUD	Negative
9	F	17	W	KCNQ1	9	1135 T>C	W379Rb		Emotion	SUD	Negative
10	F	5	W	KCNQ1	15	1750 G>A	G584Sb		Exertion	Syncope	Negative
11	F	4	W	KCNQ1	15	1760 C>T	T587M		Nonspecific	SUD	Negative
12	F	14	W	KCNH2	3	322 T>C	C108Rb	V1951L-SCN5A	Nonspecific	SUD	Positive for SCD
13	F	29	W	KCNH2	4	del823T	C276fsX359b		Nonspecific	SUDc	Positive for syncope
14	F	15	W	KCNH2	7	insGC1746_1747	R582FS/11b		Sleep	Syncope	Negative
15	F	16	W	KCNH2	7	del1902C	T634FS/78b		Sleep	SUD	Negative
16	F	13	W	KCNH2, RYR2	9, 28	2398+5 G>T, 3321 C>T	L799/SP, T1107M-RYR2		Auditory	Syncope	Negative
17	F	15	W	KCNH2	15	3436 A>T	T1146Sb		Sleep	Syncope	Negative
18	F	16	W	SCN5A	3	311 G>A	R104Q		Sleep	SUD	Negative
19	F	19	W	SCN5A	6	659 C>T	T220I		Nonspecific	SUD	Negative
20	M	12	W	SCN5A	7	799 A>C	I267Lb		Nonspecific	SUD	Negative
21	M	23	B	SCN5A	14	2039 G>A	R680H	S1103Y-SCN5A	Exertion	SUD	Negative
22	F	39	W	SCN5A	23	4000 A>G	I3334Vb		Sleep	Syncope	Positive for syncope and CA
23	F	16	W	SCN5A	28	5302 A>G	I1768V		Sleep	SUD	Negative
24	M	12	W	KCNE2	2	29 C>T	T10M	D85N-KCNE1,	Exertion	Syncope	Negative
25	F	18	W	KCNE2	2	161 T>C	M54T		Sleep	SUD	Negative
26	M	21	W	RYR2	9	649 A>G	I217Va	G1885E-RYR2, G1886S-RYR2,	Nonspecific	Syncope	Positive for SCD
27	M	2	W	RYR2	10, 90	719 A>G, 12472 A>C	H240R,b T4158Pb		Exertion	SUD	Negative
28	F	35	W	RYR2	14	1198 G>C	D400Hb		Nonspecific	SUD	Positive for SCD
29	M	9	H	RYR2	14	1220 G>T	R407Ib		Nonspecific	Syncope	Negative
30	M	17	W	RYR2	14	1258 C>T	R420W		Exertion	Syncope	Negative
31	F	22	W	RYR2	14	1258 C>T	R420W		Nonspecific	SUD	Positive for SCD
32	M	36	W	RYR2	41	6337 G>A	V2113Mb		Exertion	SUD	Negative
33	M	16	W	RYR2	43	6680 G>T	G2227Vb		Nonspecific	SUD	Negative
34	M	5	W	RYR2	44	6737 C>T	S2246L	G643S-KCNQ1, D85N-KCNE1	Exertion	SUD	Negative
35	M	4	B	RYR2	44	6739 C>T	S2246L		Exertion	SUD	Negative
36	F	25	W	RYR2	47	7175 A>G	Y2392C	R1047L-KCNH2	Exertion	SUD	Positive for SCD
37	F	17	W	RYR2	50	7528 A>G	T2510Ab		Nonspecific	SUD	Negative
38	M	17	W	RYR2	86	11636 T>C	L3879Pb		Exertion	Syncope	Negative
39	F	9	W	RYR2	87	11773 C>G	Q3925Eb		Exertion	Seizures	Negative
40	F	15	W	RYR2	88	11876 C>T	S3959Lb		Exertion	SUD	Negative
41	M	18	W	RYR2	90	12290 A>G	N4097Sb		Nonspecific	SUD	Positive for SCD
42	M	14	W	RYR2	90	12436 G>A	E4146Kb		Sleep	SUD	Positive for SCD
43	F	34	B	RYR2	93	13610 C>T	R4497C		Nonspecific	SUD	Positive for SCD
44	F	5	W	RYR2	96	13933 T>A	W4645R		Exertion	SVT	Negative
45	F	8	W	RYR2	104	14803 G>A	G4936Rb		Exertion	Seizures	Negative

^aB = black; CA = cardiac arrest; F = female; H = Hispanic; M = male; SCD = sudden cardiac death; SUD = sudden unexplained death; SVT = sustained ventricular tachycardia; W = white.

^bNovel to this cohort.

^cPostpartum period.