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Mutation Direct

Effortless mutation search and display tool

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Gene: ENG & Disease: PAVM, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
523407	ENG	c.1583del	p.Pro528fs (p.P528fs)	NM_001114753.3 M	Del	P	2 +	1
	ENG	c.1581delC	p.Pro528Argfs (p.P528Argfs)	NM_000118.4	Del	P	2 +	1
	ENG	c.1037del	p.Pro346fs (p.P346fs)	NM_001278138.2	Del	P	2 +	1

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