Table 3. Variants with likely functional effects.

ID	Sex	Age	Gene	Function	Coding effect	Nuclotide variant	AA variant	MAF	rsID	Evidence (primary literature)
1	F	1	RYR2 (NM_001035.2)	Intracellular calcium homeostasis	Missense	c.1358G>C	p.(S453T)	0.03%a	rs761911597	44
2	M	3	KCNH2 (NM_000238.3)	Potassium channel	Missense	c.442C>T	p.(R148W)	0.05%a	rs139544114
3	F	11	DSP (NM_004415.2)	Desmosomal	Nonsense	c.2836G>Tb	p.(E946*)	—	—
4	M	15	CACNB2 (NM_201596.2)	L-type calcium channel	Missense	c.641G>C	p.(S214T)	0.08%a	rs149253719	45
			MYBPC3 (NM_000256.3)	Sarcomeric	Missense	c.649A>G	p.(S217G)	0.1%c	rs138753870	30
5	F	15	KCNH2 (NM_000238.3)	Potassium channel	Missense	c.526C>T	p.(R176W)	—	rs36210422	46
6	M	22	CACNB2 (NM_201596.2)	L-type calcium channel	Missense	c.1883A>Cb	p.(H628P)	—	—
7	F	24	SCN5A (NM_001099404.1)	Sodium channel	Missense	c.496G>A	p.(A166T)	0.01%a	rs201232332
			LMNA (NM_170707.2)	Nuclear	Missense	c.1256G>Ab	p.(R419H)	—	—
8	M	26	SCN5A (NM_001099404.1)	Sodium channel	Missense	c.1127G>Tb	p.(R376L)	—	—
9	F	28	MYBPC3 (NM_000256.3)	Sarcomeric	Missense	c.2992C>G	p.(Q998E)	—	rs11570112	47
10	M	35	MYBPC3 (NM_000256.3)	Sarcomeric	Missense	c.3742G>A	p.(G1248R)	0.04%c	rs202147520	28
11	F	36	KCNE2 (NM_172201.1)	Potassium channel	Missense	c.29C>T	p.(T10M)	0.03%a	rs199473648	48
12	M	37	RYR2 (NM_001035.2)	Intracellular calcium homeostasis	Missense	c.12430C>Ab	p.(R4144S)	—	—
13	F	39	KCNJ8 (NM_004982.3)	Potassium channel	Nonsense	c.1066C>Tb	p.(R356*)	—	—
14	M	41	RYR2 (NM_001035.2)	Intracellular calcium homeostasis	Missense	c.13931A>Gb	p.(Y4644C)	—	—
15	M	42	KCNQ1 (NM_000218.2)	Potassium channel	Missense	c.514G>A	p.(V172M)	—	rs199472694	49
			TTN (NM_001267550.1)	Sarcomeric	Nonsense	c.38356A>Tb	p.(K12786*)	—	—
16	F	45	PKP2 (NM_004572.3)	Desmosomal	Missense	c.184C>A	p.(Q62K)	0.03%c	rs199601548	50
17	M	45	SCN5A (NM_001099404.1)	Sodium channel	Missense	c.1019G>Ab	p.(R340Q)	—	—	29
18	F	46	MYBPC3 (NM_000256.3)	Sarcomeric	Missense	c.442G>A	p.(G148R)	—	rs397516050	27
			TNNC1 (NM_003280.2)	Sarcomeric	Missense	c.433G>A	p.(D145N)	0.01%c	rs142759728
19	F	46	SCN5A (NM_001099404.1)	Sodium channel	Missense	c.6046G>A	p.(V2016M)	—	rs762981322	51
20d,e	M	48	DTNA (NM_001390.4)	Dystrophin complex	Missense	c.257C>Tb	p.(S86F)	—	—
21d,e	M	49	KCNQ1 (NM_000218.2)	Potassium channel	Missense	c.592A>G	p.(I198V)	—	rs199472700	52

Abbreviations: AA, amino acid; F, female; M, male; MAF, minor allele frequency.

Clinical data and genetic variants with likely functional effects, including details of the functions of the gene, nucleotide- and amino-acid change and frequency in a healthy population.

^aMinor allele frequency in a Danish population study.²²

^bNovel variant.

^cMinor allele frequency in European–American populations in the NHLBI GO Exome Sequencing Project (ESP) (http://evs.gs.washington.edu/EVS/).

^dDNA purified from spleen samples.

^eDNA was whole genome amplified.