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Gene: PEX1 & Disease: PBD1B, 558 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
7516	PEX1	c.2528G>A	p.Gly843Asp (p.G843D)	NM_000466.3 M	SNV	P	8 +	24
	PEX1	c.2357G>A	p.Gly786Asp (p.G786D)	NM_001282677.2	SNV	P	8 +	24
	PEX1	c.1904G>A	p.Gly635Asp (p.G635D)	NM_001282678.2	SNV	P	8 +	24
7519	PEX1	c.2097dup	p.Ile700fs (p.I700fs)	NM_000466.3 M	Dup	P	6 +	19
	PEX1	c.2097dupT	--	NM_000466.3 M	Dup	P	6 +	19
	PEX1	c.1926dup	p.Ile643fs (p.I643fs)	NM_001282677.2	Dup	P	6 +	19
	PEX1	c.1473dup	p.Ile492fs (p.I492fs)	NM_001282678.2	Dup	P	6 +	19
189043	PEX1	c.2916del	p.Gly973fs (p.G973fs)	NM_000466.3 M	Del	P	4 +	14
	PEX1	c.2745del	p.Gly916fs (p.G916fs)	NM_001282677.2	Del	P	4 +	14
	PEX1	c.2292del	p.Gly765fs (p.G765fs)	NM_001282678.2	Del	P	4 +	14
189002	PEX1	c.2926+2T>C	--	NM_000466.3 M	SNV	P	4 +	10
928942	PEX1	c.2071+1G>T	--	NM_000466.3 M	SNV	P	3 +	10
189002	PEX1	c.2755+2T>C	--	NM_001282677.2	SNV	P	4 +	10
189002	PEX1	c.2302+2T>C	--	NM_001282678.2	SNV	P	4 +	10
928942	PEX1	c.1900+1517G>T	--	NM_001282677.2	SNV	P	3 +	10
928942	PEX1	c.1447+1G>T	--	NM_001282678.2	SNV	P	3 +	10
550841	PEX1	c.1897C>T	p.Arg633Ter (p.R633X)	NM_000466.3 M	SNV	P	4 +	9
	PEX1	c.1897C>T	p.Arg633Ter (p.R633X)	NM_001282677.2	SNV	P	4 +	9
	PEX1	c.1273C>T	p.Arg425Ter (p.R425X)	NM_001282678.2	SNV	P	4 +	9
188729	PEX1	c.2926+1G>A	--	NM_000466.3 M	SNV	P	4 +	8

共558个结果, 每页展示20条

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