Favorite

Mutation Direct

Effortless mutation search and display tool

Search

Search criteria：

Gene: ENG & Disease: BAVM, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
545104	ENG	c.920dup	p.Asn307fs (p.N307fs)	NM_001114753.3 M	Dup	P	3 +	2
	ENG	c.919dup	p.Asn307Lysfs (p.N307Lysfs)	NM_000118.4	Dup	P	3 +	2
	ENG	c.374dup	p.Asn125fs (p.N125fs)	NM_001278138.2	Dup	P	3 +	2
	ENG	c.919dup	p.Asn307Lysfs (p.N307Lysfs)	NM_001406715.1	Dup	P	3 +	2

4 Results, 20 per Page

1

Comparison

Back to top