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Gene: PEX1 & Disease: HMLR1, 184 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
558237	PEX1	c.273+1G>A	--	NM_000466.3 M	SNV	P	5 +	8
224325	PEX1	c.2966T>C	p.Ile989Thr (p.I989T)	NM_000466.3 M	SNV	P	5 +	8
558237	PEX1	c.273+1G>A	--	NM_001282677.2	SNV	P	5 +	8
558237	PEX1	c.-387+1G>A	--	NM_001282678.2	SNV	P	5 +	8
224325	PEX1	c.2795T>C	p.Ile932Thr (p.I932T)	NM_001282677.2	SNV	P	5 +	8
224325	PEX1	c.2342T>C	p.Ile781Thr (p.I781T)	NM_001282678.2	SNV	P	5 +	8
813403	PEX1	c.2085_2089del	p.Met695fs (p.M695fs)	NM_000466.3 M	Del	P	5 +	7
495880	PEX1	c.2992C>T	p.Arg998Ter (p.R998X)	NM_000466.3 M	SNV	P	5 +	7
554482	PEX1	c.358-2A>C	--	NM_000466.3 M	SNV	LP	5 +	7
813403	PEX1	c.1914_1918del	p.Met638fs (p.M638fs)	NM_001282677.2	Del	P	5 +	7
813403	PEX1	c.1461_1465del	p.Met487fs (p.M487fs)	NM_001282678.2	Del	P	5 +	7
495880	PEX1	c.2821C>T	p.Arg941Ter (p.R941X)	NM_001282677.2	SNV	P	5 +	7
495880	PEX1	c.2368C>T	p.Arg790Ter (p.R790X)	NM_001282678.2	SNV	P	5 +	7

共184个结果, 每页展示20条

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Comparison