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Gene	Exon	Mutation	DNA Change	Protein Change	Controls	Patient	# Affected Relatives	Notes	Mutation details
DSC2	3	E102K	c.304G>A	p.Glu102Lys				See Beffagna et al; affects the normal localization of the mutant protein in cultured cardiomyocytes, thus suggesting a pathogenic effect.	Mutation details
DSC2	5	D179G	c.536A>G	p.Asp179Gly				MAF: 2.7%	Mutation details
DSC2	8	I345T	c.1034T>C	p.Ile345Thr				See Beffagna et al; affects the normal localization of the mutant protein in cultured cardiomyocytes, thus suggesting a pathogenic effect.	Mutation details
DSC2	15	R798Q	c.2393G>A	p.Arg798Gln				MAF: 4.7%	Mutation details
DSC2	16	A897fsX900	c.2686_2687dupGA	p.Ala897LysfsX4	6/400	4 out of 5 carried one or two mutations in different ARVC/D genes		See Rampazzo et al; may be considered a rare variant, though possibly affecting phenotypic expression of concomitant ARVC/D mutations.	Mutation details
DSG2	4	Y87C	c.260A>G	p.Tyr87Cys				Found in patient with DSC2 A897KfsX4 variant	Mutation details
DSG2	13	G638R	c.1912G>A	p.Gly638Arg	0/400			See Rampazzo et al; Found in patient with DSP N375I mutation and with DSC2 A897KfsX4 variant	Mutation details
DSP	9	N375I	c.1124A>T	p.Asn375Ile	0/400			See Rampazzo et al; Found in two patients; both with DSC2 A897KfsX4 variant; one with DSG2 G638R mutation and one with PKP2 F552C mutation	Mutation details
PKP2	1	T15T	c.45C>T	p.=	0/220			Found in patient with PKP2 V406SfsX3 mutation and with DSC2 A897KfsX4 variant	Mutation details
PKP2	1	E58D	c.174G>T	p.Glu58Asp				MAF: 0.9%; Found in patient with DSC2 A897KfsX4 variant	Mutation details
PKP2	5	S406fsX409	c.1211dupT	p.Val406SerfsX4				Found in patient with DSC2 A897KfsX4 variant	Mutation details
PKP2	7	F552C	c.1655T>G	p.Phe552Cys	0/400			Found in patient both with DSP N375I mutation and with DSC2 A897KfsX4 variant	Mutation details