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Gene: COL3A1 & Disease: AAT4, 877 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
17200	COL3A1	c.2356G>A	p.Gly786Arg (p.G786R)	NM_000090.4 M	SNV	P	3 +	13
101349	COL3A1	c.709G>A	p.Gly237Arg (p.G237R)	NM_000090.4 M	SNV	P	3 +	12
17202	COL3A1	c.1347+1G>A	--	NM_000090.4 M	SNV	P	3 +	11
17228	COL3A1	c.547G>A	p.Gly183Ser (p.G183S)	NM_000090.4 M	SNV	P	3 +	11
17225	COL3A1	c.1744G>A	p.Gly582Ser (p.G582S)	NM_000090.4 M	SNV	P	3 +	10
101452	COL3A1	c.1258G>A	p.Gly420Ser (p.G420S)	NM_000090.4 M	SNV	P	3 +	10
101388	COL3A1	c.970G>A	p.Gly324Ser (p.G324S)	NM_000090.4 M	SNV	P	3 +	10
101269	COL3A1	c.1662+1G>A	--	NM_000090.4 M	SNV	P	3 +	9
161218	COL3A1	c.3938A>G	p.Lys1313Arg (p.K1313R)	NM_000090.4 M	SNV	LB	7 +	8
199744	COL3A1	c.3818A>G	p.Lys1273Arg (p.K1273R)	NM_000090.4 M	SNV	LB	5 +	8
459787	COL3A1	c.3500G>A	p.Gly1167Asp (p.G1167D)	NM_000090.4 M	SNV	P	3 +	8
1486385	COL3A1	c.2986G>A	p.Gly996Arg (p.G996R)	NM_000090.4 M	SNV	P	3 +	8
640050	COL3A1	c.1996G>A	p.Gly666Ser (p.G666S)	NM_000090.4 M	SNV	LP	4 +	8
199715	COL3A1	c.1024G>A	p.Gly342Arg (p.G342R)	NM_000090.4 M	SNV	P	3 +	8
161215	COL3A1	c.812G>A	p.Arg271Gln (p.R271Q)	NM_000090.4 M	SNV	LB	6 +	8
101469	COL3A1	c.674G>C	p.Gly225Ala (p.G225A)	NM_000090.4 M	SNV	P	3 +	8
101239	COL3A1	c.3391G>A	p.Gly1131Ser (p.G1131S)	NM_000090.4 M	SNV	P	3 +	7
459784	COL3A1	c.3103G>A	p.Gly1035Ser (p.G1035S)	NM_000090.4 M	SNV	LP	3 +	7
101455	COL3A1	c.2131G>A	p.Gly711Ser (p.G711S)	NM_000090.4 M	SNV	P	4 +	7
519597	COL3A1	c.1987G>A	p.Gly663Ser (p.G663S)	NM_000090.4 M	SNV	LP	2 +	7

877 Results, 20 per Page

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