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Gene	Exon	Mutation	DNA Change	Protein Change	Controls	Patient	# Affected Relatives	Notes	Mutation details
PKP2	1	S50fsX110	c.145_148delCAGA	p.Thr50SerfsX61	0/0	TFC+			Mutation details
PKP2	2	R79X	c.235C>T	p.Arg79X	0/0	TFC+			Mutation details
PKP2	3	S140F	c.419C>T	p.Ser140Phe	0/0	TFC+			Mutation details
PKP2	5	Splice	c.1171-2A>G	r.spl	0/400	TFC+			Mutation details
PKP2	5	F424S	c.1271T>C	p.Phe424Ser	0/400	TFC+			Mutation details
PKP2	5	N456fsX458	c.1368delA	p.Lys456AsnfsX3	0/400	TFC+			Mutation details
PKP2	7	W538X	c.1613G>A	p.Trp538X	0/400	TFC+			Mutation details
PKP2	7	V548fsX562	c.1643delG	p.Gly548ValfsX15	0/0	TFC+			Mutation details
PKP2	10	R672fsX683	c.2013delC	p.Lys672ArgfsX12	0/400	TFC+			Mutation details
PKP2	11	Splice	c.2146-1G>C	r.spl	0/0	TFC+			Mutation details
PKP2	11	A733fsX740	c.2197_2202delinsG	p.His733AlafsX8	0/400	TFC+			Mutation details
PKP2	12	Splice	c.2489+1G>A	r.spl	0/0	TFC+			Mutation details
PKP2	13	V837fsX930	c.2509delA	p.Ser837ValfsX94	0/0	TFC+			Mutation details