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Mutation Direct

Effortless mutation search and display tool

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Gene: TGFBR1 & Disease: CEDS, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
625133	TGFBR1	c.575G>A	p.Gly192Asp (p.G192D)	NM_004612.4 M	SNV	LP	1 +	1
	TGFBR1	c.344G>A	p.Gly115Asp (p.G115D)	NM_001130916.3	SNV	LP	1 +	1
	TGFBR1	c.587G>A	p.Gly196Asp (p.G196D)	NM_001306210.2	SNV	LP	1 +	1

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