. 2009 Jan 14;17(6):741–748. doi: 10.1038/ejhg.2008.252

Table 1. The unambiguous mutations identified in six different PEX genes.

PEX gene	Mutation: cDNA level	Exon	Mutation: protein level	Number of alleles	References	Detected (d) / not detected (nd) Steinberg et al¹¹
PEX1	c.274G>C	4	p.V92L	2	Rosewich et al³	nd
	c.911_912delCT	5	p.S304CfsX4	1	Rosewich et al³	nd
	c.1865_1866insGAGTGTGGA	11	p.A622_H623insSVC	2	Rosewich et al³	nd
	c.2083_2085delATG	13	p.M695del	2	Rosewich et al³	d
	c.2097_2098insT	13	p.I700YfsX42	52	Rosewich et al³, This study	d
	c.2227_2416del190bp	14	p.E743NfsX2	3	Rosewich et al³	nd
	c.2387T>C	14	p.L796P	1	Rosewich et al³	nd
	c.2528G>A	15	p.G843D	68	Rosewich et al³, This study	d
	c.2614C>T	16	p.R872X	3	Rosewich et al³	nd
	c.2814_2818delCTTTG	18	p.F938LfsX2	1	Rosewich et al³	d
	c.3038G>A	20	p.R1013H	1	Rosewich et al³	nd
	c.3287C>G	21	p.S1096X	1	Rosewich et al³	nd
	c.3378C>G	21	p.Y1126X	1	Rosewich et al³	nd
	c.3691_3694delCAGT	23	p.Q1231HfsX3	2	Rosewich et al³	nd

PEX2	c.115C>T	3	p.Q39X	2	Krause et al¹⁴	d
	c.834_838delTACTT	3	p.F278LfsX3	4	Krause et al¹⁴	d

PEX6	c.685_686insAG	1	p.S232HfsX15	6	Krause et al¹⁴	d
	c.1314_1321delGGAGGCCT	5	p.E439GfsX3	2	This study, unpublished	nd
	c.1415dupC	6	p.G473RfsX13	2	Krause et al¹⁴	nd
	c.1946delG	9	p.I650SfsX10	2	This study, unpublished	nd
	c.2048T>C	10	p.L683P	1	This study, unpublished	nd
	c.2120T>G	10	p.V707G	2	This study, unpublished	nd
	c.2362G>A	11	p.V788M	1	This study, unpublished	nd
	c.2426C>T	13	p.A809V	1	This study	d
	c.2434C>T	13	p.R812W	1	This study	d

PEX10	c.730C>T	4	p.Arg244X	3	Krause et al¹⁴	d
	c.874_875delCT	4	p.L272fs	2	This study	d
	c.881G>A	5	p.Trp294X	1	Krause et al¹⁴	d

PEX12	c.875_876delCT	3	p.Ser292X	2	Krause et al¹⁴	d

PEX13	c.937T>G	4	p.Trp313Gly	2	Krause et al¹⁴	nd

			Total	174