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Gene: CAV3 & Disease: LQT1, 60 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
8293	CAV3	c.233C>T	p.Thr78Met (p.T78M)	NM_033337.3 M	SNV	P	4 +	28
8293	CAV3	c.233C>T	p.Thr78Met (p.T78M)	NM_001234.5	SNV	P	4 +	28
8279	CAV3	c.216C>G	p.Cys72Trp (p.C72W)	NM_033337.3 M	SNV	P	10 +	15
8279	CAV3	c.216C>G	p.Cys72Trp (p.C72W)	NM_001234.5	SNV	P	10 +	15
279733	CAV3	c.244G>A	p.Val82Ile (p.V82I)	NM_033337.3 M	SNV	LB	2 +	5
279733	CAV3	c.244G>A	p.Val82Ile (p.V82I)	NM_001234.5	SNV	LB	2 +	5
8278	CAV3	c.166G>A	p.Gly56Ser (p.G56S)	NM_033337.3 M	SNV	LB	10 +	3
8278	CAV3	c.166G>A	p.Gly56Ser (p.G56S)	NM_001234.5	SNV	LB	10 +	3
31739	CAV3	c.-37G>A	--	NM_033337.3 M	SNV	LP	3 +	1
31739	CAV3	c.-37G>A	--	NM_001234.5	SNV	LP	3 +	1
346850	CAV3	c.*276C>T	--	NM_033337.3 M	SNV	LB	3 +	0
346864	CAV3	c.*853T>C	--	NM_033337.3 M	SNV	VUS	3 +	0
346863	CAV3	c.*852G>A	--	NM_033337.3 M	SNV	VUS	9 +	0
346859	CAV3	c.*788C>A	--	NM_033337.3 M	SNV	B	3 +	0
346858	CAV3	c.*763G>A	--	NM_033337.3 M	SNV	B	3 +	0
31720	CAV3	c.*783A>G	--	NM_033337.3 M	SNV	LB	3 +	0
346861	CAV3	c.*813del	--	NM_033337.3 M	Del	LB	3 +	0
31707	CAV3	c.*811C>G	--	NM_033337.3 M	SNV	LB	3 +	0
346857	CAV3	c.*741G>A	--	NM_033337.3 M	SNV	VUS	9 +	0
346855	CAV3	c.*722G>A	--	NM_033337.3 M	SNV	VUS	3 +	0

共60个结果, 每页展示20条

Comparison