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Gene	Exon	Mutation	DNA Change	Protein Change	Controls	Patient	# Affected Relatives	Notes	Mutation details
DSG2	8	L277_M280del	c.829_840del12	p.Leu277_Met280del	0/0	SCD at age 15			Mutation details
DSG2	12	C591X	c.1773_1774delTG	p.Cys591X	0/0	TFC+			Mutation details
DSP	7	S299R	c.897C>G	p.Ser299Arg	0/0	SCD at age 18			Mutation details
DSP	7	Splice	c.939+1G>A	r.spl?	0/0	SCD at age 42			Mutation details
DSP	23	R1113X	c.3337C>T	p.Arg1113X	0/0	SCD at age 36			Mutation details
JUP	2	S39_K40insS	c.118_119insGCA	p.Ser39_Lys40insSer	0/0	TFC+			Mutation details
PKP2	11	Splice	c.2146-1G>C	r.spl	0/0	SCD at age 22			Mutation details
PKP2	13	V837fsX930	c.2509delA	p.Ser837ValfsX94	0/0	SCD at age 37			Mutation details