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Gene: PDGFRA & Disease: GISTPS, 113 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
13546	PDGFRA	c.1682T>A	p.Val561Asp (p.V561D)	NM_006206.6 M	SNV	P	2 +	7
	PDGFRA	c.1757T>A	p.Val586Asp (p.V586D)	NM_001347828.2	SNV	P	2 +	7
	PDGFRA	c.1682T>A	p.Val561Asp (p.V561D)	NM_001347827.2	SNV	P	2 +	7
	PDGFRA	c.1682T>A	p.Val561Asp (p.V561D)	NM_001347829.2	SNV	P	2 +	7
	PDGFRA	c.1721T>A	p.Val574Asp (p.V574D)	NM_001347830.2	SNV	P	2 +	7
13551	PDGFRA	c.2536G>T	p.Asp846Tyr (p.D846Y)	NM_006206.6 M	SNV	P	2 +	4
	PDGFRA	c.2611G>T	p.Asp871Tyr (p.D871Y)	NM_001347828.2	SNV	P	2 +	4
	PDGFRA	c.2536G>T	p.Asp846Tyr (p.D846Y)	NM_001347829.2	SNV	P	2 +	4
	PDGFRA	c.2575G>T	p.Asp859Tyr (p.D859Y)	NM_001347830.2	SNV	P	2 +	4
13552	PDGFRA	c.1664A>G	p.Tyr555Cys (p.Y555C)	NM_006206.6 M	SNV	P	2 +	3
	PDGFRA	c.1664A>G	p.Tyr555Cys (p.Y555C)	NM_001347827.2	SNV	P	2 +	3
	PDGFRA	c.1739A>G	p.Tyr580Cys (p.Y580C)	NM_001347828.2	SNV	P	2 +	3
	PDGFRA	c.1664A>G	p.Tyr555Cys (p.Y555C)	NM_001347829.2	SNV	P	2 +	3
	PDGFRA	c.1703A>G	p.Tyr568Cys (p.Y568C)	NM_001347830.2	SNV	P	2 +	3
240305	PDGFRA	c.1388C>G	p.Thr463Ser (p.T463S)	NM_006206.6 M	SNV	LB	2 +	1
414502	PDGFRA	c.1280C>T	p.Ser427Leu (p.S427L)	NM_006206.6 M	SNV	LB	3 +	1
635777	PDGFRA	c.1957_1958delinsTT	p.Pro653Leu (p.P653L)	NM_006206.6 M	Indel	P	1 +	1
635778	PDGFRA	c.2537A>T	p.Asp846Val (p.D846V)	NM_006206.6 M	SNV	P	1 +	1
39618	PDGFRA	c.3155C>T	p.Thr1052Met (p.T1052M)	NM_006206.6 M	SNV	LB	3 +	1
240305	PDGFRA	c.1388C>G	p.Thr463Ser (p.T463S)	NM_001347827.2	SNV	LB	2 +	1

113 Results, 20 per Page

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