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Gene: CD151 & Disease: EBS7, 68 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1028736	CD151	c.493C>T	p.Arg165Ter (p.R165X)	NM_004357.5 M	SNV	P	1 +	3
	CD151	c.493C>T	p.Arg165Ter (p.R165X)	NM_001039490.2	SNV	P	1 +	3
	CD151	c.493C>T	p.Arg165Ter (p.R165X)	NM_139029.2	SNV	P	1 +	3
	CD151	c.493C>T	p.Arg165Ter (p.R165X)	NM_139030.4	SNV	P	1 +	3
1247770	CD151	c.703-18A>G	--	NM_004357.5 M	SNV	LB	1 +	2
1428000	CD151	c.241G>A	p.Ala81Thr (p.A81T)	NM_004357.5 M	SNV	VUS	1 +	2
1663558	CD151	c.703-15C>T	--	NM_004357.5 M	SNV	LB	1 +	2
1028737	CD151	c.511C>T	p.Arg171Cys (p.R171C)	NM_004357.5 M	SNV	VUS	1 +	2
1639641	CD151	c.616-17C>G	--	NM_004357.5 M	SNV	LB	1 +	2
1600788	CD151	c.457-16C>T	--	NM_004357.5 M	SNV	LB	1 +	2
1640785	CD151	c.276+11C>T	--	NM_004357.5 M	SNV	LB	1 +	2
1355643	CD151	c.328C>G	p.Leu110Val (p.L110V)	NM_004357.5 M	SNV	VUS	1 +	2
1431457	CD151	c.295A>C	p.Ile99Leu (p.I99L)	NM_004357.5 M	SNV	VUS	1 +	2
1408948	CD151	c.16G>A	p.Glu6Lys (p.E6K)	NM_004357.5 M	SNV	VUS	1 +	2
1547196	CD151	c.456+9G>A	--	NM_004357.5 M	SNV	LB	1 +	2
1247770	CD151	c.703-18A>G	--	NM_139030.4	SNV	LB	1 +	2
	CD151	c.703-18A>G	--	NM_139029.2	SNV	LB	1 +	2
	CD151	c.703-18A>G	--	NM_001039490.2	SNV	LB	1 +	2
1428000	CD151	c.241G>A	p.Ala81Thr (p.A81T)	NM_001039490.2	SNV	VUS	1 +	2
1428000	CD151	c.241G>A	p.Ala81Thr (p.A81T)	NM_139029.2	SNV	VUS	1 +	2

共68个结果, 每页展示20条

Comparison