Table 3.

List of variants identified in the HCM and DCM patients. MAF: Minor Allele Frequency in ExAC²³ .

Hg19 position	Gene	rsID	Mutation	Amino acid change	Mutation type	MAF	Pathogenicity criteria
HCM
Pathogenic
11:47372858	MYBPC3		c.A224insG+		frameshift	0	PM1, PM2, PVS1
14:23884860	MYH7	rs193922390	c.5135 G>A	p.R1712Q	missense	8.1e-6	known pathogenic
Likely Pathogenic
14:23894049	MYH7	rs138049878	c.2608 C>T	p.R870C	missense	8.1e-6	PM1, PM5, PP1, PP2
14:23894612	MYH7	rs727503260	c.2302 G>C	p.G768R	missense	0	PS1, PM1, PM2, PP2
14:23899059	MYH7	rs397516088	c.1063 G>A	p.A355T	missense	0	PM1, PM2, PP1, PP2
14:63336299	TPM1	rs199476306	c.188 C>T	p.A63V	missense	0	PS3, PM1, PM2
DCM
Pathogenic
1:201334425	TNNT2	rs121964856	c.260 G>A	p.R87Q	missense	0	known pathogenic
Likely pathogenic
2:179423322	TTN		c.A60242del	p.S20082	frameshift	0	PVS1, PM2
2:179549632	TTN		c.13859 splicing		splicing	0	PVS1, PM2