Favorite

Mutation Direct

Effortless mutation search and display tool

Search

Search criteria：

Gene: GNAS & Disease: PITA1, 14 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
417936	GNAS	c.1455C>A	p.Ala485= (p.A485=)	NM_080425.4 MP	SNV	LB	14 +	2
	GNAS	c.*42+13834C>A	--	NM_016592.5 MP	SNV	LB	14 +	2
	GNAS	c.1268C>A	p.Pro423His (p.P423H)	NM_001077490.3	SNV	LB	14 +	2
	GNAS	c.1268C>A	p.Pro423His (p.P423H)	NM_001309883.1	SNV	LB	14 +	2
	GNAS	c.1455C>A	p.Ala485= (p.A485=)	NM_001410913.1	SNV	LB	14 +	2
	GNAS	c.43+13834C>A	--	NM_001410912.1	SNV	LB	14 +	2
	GNAS	c.-39+12845C>A	--	NM_001309861.2	SNV	LB	14 +	2
417934	GNAS	c.1200C>A	p.Ala400= (p.A400=)	NM_080425.4 MP	SNV	VUS	10 +	0
	GNAS	c.*42+13579C>A	--	NM_016592.5 MP	SNV	VUS	10 +	0
	GNAS	c.1013C>A	p.Pro338Gln (p.P338Q)	NM_001077490.3	SNV	VUS	10 +	0
	GNAS	c.1013C>A	p.Pro338Gln (p.P338Q)	NM_001309883.1	SNV	VUS	10 +	0
	GNAS	c.1200C>A	p.Ala400= (p.A400=)	NM_001410913.1	SNV	VUS	10 +	0
	GNAS	c.43+13579C>A	--	NM_001410912.1	SNV	VUS	10 +	0
	GNAS	c.-39+12590C>A	--	NM_001309861.2	SNV	VUS	10 +	0

14 Results, 20 per Page

1

Comparison

Back to top