Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: CAV3 & Disease: LQT, 352 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
8283	CAV3	c.80G>A	p.Arg27Gln (p.R27Q)	NM_033337.3 M	SNV	P	7 +	23
8283	CAV3	c.80G>A	p.Arg27Gln (p.R27Q)	NM_001234.5	SNV	P	7 +	23
8279	CAV3	c.216C>G	p.Cys72Trp (p.C72W)	NM_033337.3 M	SNV	P	10 +	15
8281	CAV3	c.136G>A	p.Ala46Thr (p.A46T)	NM_033337.3 M	SNV	P	4 +	15
8279	CAV3	c.216C>G	p.Cys72Trp (p.C72W)	NM_001234.5	SNV	P	10 +	15
8281	CAV3	c.136G>A	p.Ala46Thr (p.A46T)	NM_001234.5	SNV	P	4 +	15
31747	CAV3	c.80G>C	p.Arg27Pro (p.R27P)	NM_033337.3 M	SNV	LP	1 +	12
31747	CAV3	c.80G>C	p.Arg27Pro (p.R27P)	NM_001234.5	SNV	LP	1 +	12
8285	CAV3	c.277G>A	p.Ala93Thr (p.A93T)	NM_033337.3 M	SNV	P	2 +	11
8285	CAV3	c.277G>A	p.Ala93Thr (p.A93T)	NM_001234.5	SNV	P	2 +	11
31722	CAV3	c.79C>G	p.Arg27Gly (p.R27G)	NM_033337.3 M	SNV	P	1 +	7
191444	CAV3	c.294C>A	p.Cys98Ter (p.C98X)	NM_033337.3 M	SNV	LP	1 +	7
31722	CAV3	c.79C>G	p.Arg27Gly (p.R27G)	NM_001234.5	SNV	P	1 +	7
191444	CAV3	c.294C>A	p.Cys98Ter (p.C98X)	NM_001234.5	SNV	LP	1 +	7
279733	CAV3	c.244G>A	p.Val82Ile (p.V82I)	NM_033337.3 M	SNV	LB	2 +	5
31740	CAV3	c.114+2T>C	--	NM_033337.3 M	SNV	P	7 +	5
279733	CAV3	c.244G>A	p.Val82Ile (p.V82I)	NM_001234.5	SNV	LB	2 +	5
31740	CAV3	c.114+2T>C	--	NM_001234.5	SNV	P	7 +	5

352 Results, 20 per Page

...

Comparison