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Gene: PEX26 & Disease: ZSD, 18 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2152	PEX26	c.292C>T	p.Arg98Trp (p.R98W)	NM_001127649.3 M	SNV	P	4 +	10
	PEX26	c.292C>T	p.Arg98Trp (p.R98W)	NM_001199319.2	SNV	P	4 +	10
	PEX26	c.292C>T	p.Arg98Trp (p.R98W)	NM_017929.6	SNV	P	4 +	10
2159	PEX26	c.230+1G>T	--	NM_001127649.3 M	SNV	P	4 +	7
	PEX26	c.230+1G>T	--	NM_017929.6	SNV	P	4 +	7
	PEX26	c.230+1G>T	--	NM_001199319.2	SNV	P	4 +	7
1514085	PEX26	c.667+2T>C	--	NM_001127649.3 M	SNV	P	4 +	6
	PEX26	c.667+2T>C	--	NM_017929.6	SNV	P	4 +	6
	PEX26	c.667+2T>C	--	NM_001199319.2	SNV	P	4 +	6
2154	PEX26	c.34dup	p.Leu12fs (p.L12fs)	NM_001127649.3 M	Dup	P	4 +	4
928563	PEX26	c.574C>T	p.Arg192Ter (p.R192X)	NM_001127649.3 M	SNV	P	4 +	4
2154	PEX26	c.34dup	p.Leu12fs (p.L12fs)	NM_001199319.2	Dup	P	4 +	4
2154	PEX26	c.34dup	p.Leu12fs (p.L12fs)	NM_017929.6	Dup	P	4 +	4
928563	PEX26	c.574C>T	p.Arg192Ter (p.R192X)	NM_001199319.2	SNV	P	4 +	4
928563	PEX26	c.574C>T	p.Arg192Ter (p.R192X)	NM_017929.6	SNV	P	4 +	4
496444	PEX26	c.185G>A	p.Trp62Ter (p.W62X)	NM_001127649.3 M	SNV	LP	2 +	2
	PEX26	c.185G>A	p.Trp62Ter (p.W62X)	NM_001199319.2	SNV	LP	2 +	2
	PEX26	c.185G>A	p.Trp62Ter (p.W62X)	NM_017929.6	SNV	LP	2 +	2

18 Results, 20 per Page

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