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Gene: COL5A1 & Disease: Familial Thoracic Aortic Aneurysm and Aortic Dissection, 1111 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
38863	COL5A1	c.1588G>A	p.Gly530Ser (p.G530S)	NM_000093.5 M	SNV	LB	8 +	9
38863	COL5A1	c.1588G>A	p.Gly530Ser (p.G530S)	NM_001278074.1	SNV	LB	8 +	9
519653	COL5A1	c.1900G>A	p.Gly634Ser (p.G634S)	NM_000093.5 M	SNV	VUS	3 +	7
519653	COL5A1	c.1900G>A	p.Gly634Ser (p.G634S)	NM_001278074.1	SNV	VUS	3 +	7
426186	COL5A1	c.3341G>C	p.Gly1114Ala (p.G1114A)	NM_000093.5 M	SNV	LP	3 +	5
519656	COL5A1	c.5165dup	p.Val1723fs (p.V1723fs)	NM_000093.5 M	Dup	LP	2 +	5
1200898	COL5A1	c.4267G>A	p.Gly1423Ser (p.G1423S)	NM_000093.5 M	SNV	VUS	3 +	5
529239	COL5A1	c.2971G>A	p.Gly991Ser (p.G991S)	NM_000093.5 M	SNV	VUS	3 +	5
529259	COL5A1	c.2269G>A	p.Gly757Ser (p.G757S)	NM_000093.5 M	SNV	VUS	3 +	5
426186	COL5A1	c.3341G>C	p.Gly1114Ala (p.G1114A)	NM_001278074.1	SNV	LP	3 +	5
519656	COL5A1	c.5165dup	p.Val1723fs (p.V1723fs)	NM_001278074.1	Dup	LP	2 +	5
1200898	COL5A1	c.4267G>A	p.Gly1423Ser (p.G1423S)	NM_001278074.1	SNV	VUS	3 +	5
529239	COL5A1	c.2971G>A	p.Gly991Ser (p.G991S)	NM_001278074.1	SNV	VUS	3 +	5
529259	COL5A1	c.2269G>A	p.Gly757Ser (p.G757S)	NM_001278074.1	SNV	VUS	3 +	5
213010	COL5A1	c.341C>A	p.Ala114Asp (p.A114D)	NM_000093.5 M	SNV	LB	6 +	4
180298	COL5A1	c.514G>T	p.Val172Phe (p.V172F)	NM_000093.5 M	SNV	LB	6 +	4
213010	COL5A1	c.341C>A	p.Ala114Asp (p.A114D)	NM_001278074.1	SNV	LB	6 +	4
180298	COL5A1	c.514G>T	p.Val172Phe (p.V172F)	NM_001278074.1	SNV	LB	6 +	4
213011	COL5A1	c.367C>G	p.Gln123Glu (p.Q123E)	NM_000093.5 M	SNV	LB	6 +	3
213018	COL5A1	c.944C>T	p.Thr315Met (p.T315M)	NM_000093.5 M	SNV	LB	4 +	3

1111 Results, 20 per Page

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