Favorite

Mutation Direct

Effortless mutation search and display tool

Search

Search criteria：

Gene: TBX4 & Disease: Pulmonary Hypoplasia, Primary, 9 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
812880	TBX4	c.1115dup	p.Pro373fs (p.P373fs)	NM_001321120.2 M	Dup	P	4 +	6
	TBX4	c.1112dup	p.Pro372fs (p.P372fs)	NM_018488.3	Dup	P	4 +	6
	TBX4	c.1106dup	--	NM_018488.3	Dup	P	4 +	6
800378	TBX4	c.256G>A	p.Glu86Lys (p.E86K)	NM_001321120.2 M	SNV	VUS	2 +	1
1341434	TBX4	c.1201G>A	p.Glu401Lys (p.E401K)	NM_001321120.2 M	SNV	VUS	2 +	1
1341433	TBX4	c.524_527del	p.Asn175fs (p.N175fs)	NM_001321120.2 M	MS	VUS	2 +	1
800378	TBX4	c.256G>A	p.Glu86Lys (p.E86K)	NM_018488.3	SNV	VUS	2 +	1
1341434	TBX4	c.1198G>A	p.Glu400Lys (p.E400K)	NM_018488.3	SNV	VUS	2 +	1
1341433	TBX4	c.524_527del	p.Asn175fs (p.N175fs)	NM_018488.3	MS	VUS	2 +	1

9 Results, 20 per Page

1

Comparison

Back to top