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Gene: VHL & Disease: ECYT2, 3396 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2223	VHL	c.292T>C	p.Tyr98His (p.Y98H)	NM_000551.4 M	SNV	P	2 +	46
	VHL	c.292T>C	p.Tyr98His (p.Y98H)	NM_001354723.2	SNV	P	2 +	46
	VHL	c.292T>C	p.Tyr98His (p.Y98H)	NM_198156.3	SNV	P	2 +	46
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
2232	VHL	c.598C>T	p.Arg200Trp (p.R200W)	NM_000551.4 M	SNV	P	4 +	32
	VHL	c.*152C>T	--	NM_001354723.2	SNV	P	4 +	32
	VHL	c.475C>T	p.Arg159Trp (p.R159W)	NM_198156.3	SNV	P	4 +	32
2218	VHL	c.499C>T	p.Arg167Trp (p.R167W)	NM_000551.4 M	SNV	P	5 +	31
223166	VHL	c.224TCT[1]	p.Phe76Del (p.F76del)	NM_000551.4 M	MS	P	2 +	31
	VHL	c.227_229del	--	NM_000551.4 M	MS	P	2 +	31
	VHL	c.227_229delTCT	--	NM_000551.4 M	MS	P	2 +	31
2218	VHL	c.*53C>T	--	NM_001354723.2	SNV	P	5 +	31
2218	VHL	c.376C>T	p.Arg126Trp (p.R126W)	NM_198156.3	SNV	P	5 +	31
223166	VHL	c.224TCT[1]	p.Phe76Del (p.F76del)	NM_001354723.2	MS	P	2 +	31
223166	VHL	c.224TCT[1]	p.Phe76Del (p.F76del)	NM_198156.3	MS	P	2 +	31
2216	VHL	c.500G>A	p.Arg167Gln (p.R167Q)	NM_000551.4 M	SNV	P	2 +	29
2217	VHL	c.481C>T	p.Arg161Ter (p.R161X)	NM_000551.4 M	SNV	P	5 +	29
2216	VHL	c.*54G>A	--	NM_001354723.2	SNV	P	2 +	29

共3396个结果, 每页展示20条

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Comparison