Favorite

Mutation Direct

Effortless mutation search and display tool

Search

Search criteria：

Gene: VHL & Disease: ENCHOM, 9 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2233	VHL	c.241C>T	p.Pro81Ser (p.P81S)	NM_000551.4 M	SNV	P	4 +	23
	VHL	c.241C>T	p.Pro81Ser (p.P81S)	NM_001354723.2	SNV	P	4 +	23
	VHL	c.241C>T	p.Pro81Ser (p.P81S)	NM_198156.3	SNV	P	4 +	23
161401	VHL	c.538A>G	p.Ile180Val (p.I180V)	NM_000551.4 M	SNV	LP	3 +	11
	VHL	c.*92A>G	--	NM_001354723.2	SNV	LP	3 +	11
	VHL	c.415A>G	p.Ile139Val (p.I139V)	NM_198156.3	SNV	LP	3 +	11
161402	VHL	c.154G>A	p.Glu52Lys (p.E52K)	NM_000551.4 M	SNV	LP	4 +	9
	VHL	c.154G>A	p.Glu52Lys (p.E52K)	NM_001354723.2	SNV	LP	4 +	9
	VHL	c.154G>A	p.Glu52Lys (p.E52K)	NM_198156.3	SNV	LP	4 +	9

9 Results, 20 per Page

1

Comparison

Back to top