加入收藏

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: NAGLU & Disease: CMT2V, 906 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1567	NAGLU	c.1693C>T	p.Arg565Trp (p.R565W)	NM_000263.4 M	SNV	P	2 +	14
1562	NAGLU	c.889C>T	p.Arg297Ter (p.R297X)	NM_000263.4 M	SNV	P	3 +	14
437446	NAGLU	c.934G>A	p.Asp312Asn (p.D312N)	NM_000263.4 M	SNV	P	2 +	11
30795	NAGLU	c.1694G>A	p.Arg565Gln (p.R565Q)	NM_000263.4 M	SNV	P	3 +	10
553021	NAGLU	c.874G>A	p.Gly292Arg (p.G292R)	NM_000263.4 M	SNV	P	2 +	8
553948	NAGLU	c.1445G>A	p.Arg482Gln (p.R482Q)	NM_000263.4 M	SNV	LP	2 +	8
632282	NAGLU	c.1900G>A	p.Glu634Lys (p.E634K)	NM_000263.4 M	SNV	P	3 +	8
1563	NAGLU	c.1928G>A	p.Arg643His (p.R643H)	NM_000263.4 M	SNV	P	2 +	8
553061	NAGLU	c.2020C>T	p.Arg674Cys (p.R674C)	NM_000263.4 M	SNV	P	2 +	7
371634	NAGLU	c.419A>G	p.Tyr140Cys (p.Y140C)	NM_000263.4 M	SNV	P	3 +	7
1560	NAGLU	c.2021G>A	p.Arg674His (p.R674H)	NM_000263.4 M	SNV	P	2 +	7
1571	NAGLU	c.1444C>T	p.Arg482Trp (p.R482W)	NM_000263.4 M	SNV	P	2 +	7
1568	NAGLU	c.1694G>C	p.Arg565Pro (p.R565P)	NM_000263.4 M	SNV	P	2 +	7
552642	NAGLU	c.358G>T	p.Glu120Ter (p.E120X)	NM_000263.4 M	SNV	P	2 +	7
551331	NAGLU	c.1211G>A	p.Trp404Ter (p.W404X)	NM_000263.4 M	SNV	P	2 +	6
522823	NAGLU	c.1834A>G	p.Ser612Gly (p.S612G)	NM_000263.4 M	SNV	P	3 +	6
2048997	NAGLU	c.935A>C	p.Asp312Ala (p.D312A)	NM_000263.4 M	SNV	LP	2 +	6
1481925	NAGLU	c.418T>A	p.Tyr140Asn (p.Y140N)	NM_000263.4 M	SNV	LP	2 +	6
1564	NAGLU	c.507_516del	p.Ser169fs (p.S169fs)	NM_000263.4 M	Del	P	3 +	6
556920	NAGLU	c.274T>C	p.Tyr92His (p.Y92H)	NM_000263.4 M	SNV	P	2 +	6

906 Results, 20 per Page

...

Comparison