Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: TEK & Disease: GLC3E, 81 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1333305	TEK	c.1490-1G>A	--	NM_000459.5 M	SNV	P	1 +	2
1333386	TEK	c.857G>T	p.Gly286Val (p.G286V)	NM_000459.5 M	SNV	LP	1 +	2
1333408	TEK	c.470_471insTGGT	p.Lys157fs (p.K157fs)	NM_000459.5 M	Ins	P	1 +	2
1333465	TEK	c.3251C>G	p.Ser1084Ter (p.S1084X)	NM_000459.5 M	SNV	P	1 +	2
1333491	TEK	c.154dup	p.His52fs (p.H52fs)	NM_000459.5 M	Dup	P	1 +	2
518397	TEK	c.2209+17A>G	--	NM_000459.5 M	SNV	B	2 +	2
1333535	TEK	c.3263T>C	p.Ile1088Thr (p.I1088T)	NM_000459.5 M	SNV	VUS	1 +	2
366434	TEK	c.1962A>G	p.Ser654= (p.S654=)	NM_000459.5 M	SNV	B	2 +	2
1333692	TEK	c.32G>A	p.Gly11Glu (p.G11E)	NM_000459.5 M	SNV	VUS	1 +	2
1284626	TEK	c.1037A>C	p.Gln346Pro (p.Q346P)	NM_000459.5 M	SNV	B	2 +	2
930496	TEK	c.2773G>A	p.Ala925Thr (p.A925T)	NM_000459.5 M	SNV	LB	2 +	2
1333305	TEK	c.1361-1G>A	--	NM_001290077.1	SNV	P	1 +	2
	TEK	c.1049-1G>A	--	NM_001290078.1	SNV	P	1 +	2
	TEK	c.1490-1G>A	--	NM_001375475.1	SNV	P	1 +	2
	TEK	c.1361-1G>A	--	NM_001375476.1	SNV	P	1 +	2
1333386	TEK	c.857G>T	p.Gly286Val (p.G286V)	NM_001375475.1	SNV	LP	1 +	2
1333386	TEK	c.857G>T	p.Gly286Val (p.G286V)	NM_001375476.1	SNV	LP	1 +	2
1333408	TEK	c.470_471insTGGT	p.Lys157fs (p.K157fs)	NM_001375475.1	Ins	P	1 +	2
1333408	TEK	c.470_471insTGGT	p.Lys157fs (p.K157fs)	NM_001375476.1	Ins	P	1 +	2
1333465	TEK	c.3248C>G	p.Ser1083Ter (p.S1083X)	NM_001375475.1	SNV	P	1 +	2

81 Results, 20 per Page

Comparison