Favorite

Mutation Direct

Effortless mutation search and display tool

Search

Search criteria：

Gene: NEB & Disease: Distal Nebulin Myopathy, 12 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
447758	NEB	c.4469T>C	p.Met1490Thr (p.M1490T)	NM_001164508.2 M	SNV	B	2 +	2
1339896	NEB	c.24040G>A	p.Val8014Ile (p.V8014I)	NM_001164508.2 M	SNV	B	2 +	2
447758	NEB	c.4469T>C	p.Met1490Thr (p.M1490T)	NM_001164507.2 MP	SNV	B	2 +	2
1339896	NEB	c.24040G>A	p.Val8014Ile (p.V8014I)	NM_001164507.2 MP	SNV	B	2 +	2
447758	NEB	c.4469T>C	p.Met1490Thr (p.M1490T)	NM_001271208.2	SNV	B	2 +	2
447758	NEB	c.4469T>C	p.Met1490Thr (p.M1490T)	NM_004543.5	SNV	B	2 +	2
1339896	NEB	c.24145G>A	p.Val8049Ile (p.V8049I)	NM_001271208.2	SNV	B	2 +	2
1339896	NEB	c.18826-3004G>A	--	NM_004543.5	SNV	B	2 +	2
1339897	NEB	c.2971C>G	p.Leu991Val (p.L991V)	NM_001164508.2 M	SNV	VUS	1 +	0
	NEB	c.2971C>G	p.Leu991Val (p.L991V)	NM_001164507.2 MP	SNV	VUS	1 +	0
	NEB	c.2971C>G	p.Leu991Val (p.L991V)	NM_001271208.2	SNV	VUS	1 +	0
	NEB	c.2971C>G	p.Leu991Val (p.L991V)	NM_004543.5	SNV	VUS	1 +	0

12 Results, 20 per Page

1

Comparison

Back to top