Table 5.

Mutations detected per patient.

Early-Onset
Patient ID	Familiarity	Gene ID	Exon	DNA Change	Protein Change	Mutation Type	Clinical Significance	dbSNP	Previously Reported	Coverage	Allele Coverage
EO1	yes	MYBPC3	5	c.553A>T	Lys185Ter	STOP	known/pathogenic	rs375607980	yes	384	202
EO2	yes	MYH7	19	c.2156G>A	Arg719Gln	MISSENSE	known/pathogenic	rs121913641	yes	399	204
EO3		CAV3	2	c.233C>T	Thr78Met	MISSENSE	known/uncertain significance	rs72546668	yes	124	57
EO4		MYBPC3	23	c.2309-2A>G		SPLICING	known/pathogenic	rs111729952	yes	400	186
EO5		MYH7	16	c.1816G>A	Val606Met	MISSENSE	known/pathogenic	rs121913627	yes	383	204
EO6	yes	MYH7	8	c.676G>A	Ala226Thr	MISSENSE	new/uncertain significance			399	208
		GLA	6	c.937G>T	Asp313Tyr	MISSENSE	known/uncertain significance	rs28935490	yes	399	183
EO7	yes	MYBPC3	28	c.3034C>T	Gln1012Ter	STOP	known/pathogenic	rs730880586	yes	397	194
EO8	yes	MYBPC3	23	c.2309-2A>G		SPLICING	known/pathogenic	rs111729952	yes	398	204
EO9	yes	MYH7	19	c.2146G>C	Gly716Arg	MISSENSE	known/likely pathogenic	rs121913638	yes	354	169
EO11	yes	MYBPC3	16	c.1483C>T	Arg495Trp	MISSENSE	known/uncertain significance	rs397515905	yes	400	259
		CAV3	2	c.216C>G	Cys72Trp	MISSENSE	known/uncertain significance	rs116840776	yes	400	182
EO12	yes	MYBPC3	23	c.2309-2A>G		SPLICING	known/pathogenic	rs111729952	yes	399	185
EO13		MYBPC3	32	c.3636T>G	Ile1212Met	MISSENSE	new/likely pathogenic			400	201
			23	c.2309-2A>G		SPLICING	known/pathogenic	rs111729952	yes	399	187
			16	c.1591G>C	Gly531Arg	MISSENSE	known/likely pathogenic	rs397515912	yes	400	184
EO14		CAV3	2	c.233C>T	Thr78Met	MISSENSE	known/uncertain significance	rs72546668	yes	399	214
EO17		MYBPC3	22	c.2308G>A	Asp770Asn	MISSENSE/SPLICING	known/pathogenic	rs36211723	yes	399	195
EO18	yes	MYBPC3	13	c.1120C>G	Tyr374Ter	STOP	known/pathogenic	rs730880635	yes	400	225
EO19	yes	MYBPC3	32	c.3775C>T	Gln1259Ter	STOP	known/pathogenic	rs730880605	yes	398	204
EO20	yes	MYL2	6	c.401A>C	Glu134Ala	MISSENSE	known/likely pathogenic	rs143139258	yes	398	191
EO21	yes	MYBPC3	5	c.565G>A	Val189Ile	MISSENSE	known/uncertain significance	rs11570052	yes	309	253
		MYH7	22	c.2543_2545 delAAG	Lys847del	DELETION	known/pathogenic		yes	391	194
EO22		CAV3	2	c.400G>T	Ala134Ser	MISSENSE	new/uncertain significance			330	168
EO23		MYH7	30	c.3973G>A	Ala1325Thr	MISSENSE/SPLICING	new/uncertain significance			400	176
			23	c.2804A>T	Glu935Val	MISSENSE	known/pathogenic	rs730880761	yes	400	206
EO25	yes	MYBPC3	15	c.1409G>A	Arg470Gln	MISSENSE	known/uncertain significance		yes	293	130
EO26	yes	TNNT2	16	c.853C>T	Arg285Cys	MISSENSE	known/likely pathogenic	rs121964857	yes	323	167
EO27	yes	TNNT2	14	c.794A>T	Lys265Ile	MISSENSE	known/uncertain significance	rs397516482	yes	395	193
EO29	yes	MYBPC3	24	c.2429G>A	Arg810His	MISSENSE	known/likely pathogenic	rs375675796	yes	400	148
EO30	yes	TNNI3	6	c.431T>A	Leu144Gln	MISSENSE	known/pathogenic	rs121917760	yes	398	227
EO31		MYBPC3	5	c.565G>A	Val189Ile	MISSENSE	known/likely benign	rs11570052	yes	312	152
EO32		MYH7	18	c.1988G>A	Arg663His	MISSENSE	known/pathogenic	rs371898076	yes	400	211
EO33		MYBPC3	29	c.3193_3194 insC	Lys1065Glnfs	INSERTION	known/pathogenic	rs397516007	yes	398	194
			16	c.1591G>C	Gly531Arg	MISSENSE	known/likely pathogenic	rs397515912	yes	400	212
			13	c.1112C>G	Pro371Arg	MISSENSE	known/uncertain significance	rs397515887	yes	235	87
EO34	yes	TNNT2	9	c.281G>C	Arg94Thr	MISSENSE	known/uncertain significance	rs397516452	yes	400	196
EO35		MYBPC3	26	c.2905+1G>A	ex26	SPLICING	known/pathogenic	rs397515991	Yes	296	139
Late-Onset
Patient ID	Familiarity	Gene ID	Exon	DNA Change	Protein Change	Mutation Type	Clinical Significance	dbSNP	Previously Reported	Coverage	Allele Coverage
LO1	Yes	MYH7	25	c.3133C>T	Arg1045Cys	MISSENSE	known/uncertain significance	rs45611033	yes	213	113
LO4		MYH7	27	c.3367G>C	Glu1123Gln	MISSENSE	new/uncertain significance			400	220
LO6		MYH6	20	c.2425C>T	Arg809Cys	MISSENSE	new/ likely pathogenic			299	139
LO8	Yes	MYBPC3	16	c.1624G>C	Glu542Gln	MISSENSE/SPLICING	known/pathogenic	rs121909374	yes	353	188
		TNNI3	6	c.385C>G	Thr128Ser	MISSENSE	new/likely benign			400	204
LO13	Yes	MYH7	16	c.1816G>A	Val606Met	MISSENSE	known/pathogenic	rs121913627	yes	383	204
LO14		MYH6	36	c.5519A>G	Lys1840Arg	MISSENSE	known/uncertain significance	rs373629059	yes	399	196
LO16		MYBPC3	24	c.2459G>A	Arg820Gln	MISSENSE	known/likely pathogenic	rs2856655	yes	400	213
LO17		MYH6	7	c.611G>A	Arg204His	MISSENSE	known/uncertain significance	rs200623022	yes	398	201
		MYL3	3	c.170C>A	Ala57Asp	MISSENSE	known/uncertain significance	rs139794067	yes	398	168

dbSNP: database single nucleotide polymorphisms (www.ncbi.nlm.nih.gov/SNP).