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Mutation Direct

Effortless mutation search and display tool

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Gene: VHL & Disease: AUKS, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2225	VHL	c.562C>G	p.Leu188Val (p.L188V)	NM_000551.4 M	SNV	P	4 +	36
	VHL	c.*116C>G	--	NM_001354723.2	SNV	P	4 +	36
	VHL	c.439C>G	p.Leu147Val (p.L147V)	NM_198156.3	SNV	P	4 +	36

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