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Gene: COL6A2 & Disease: BTHLM1, 3437 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2138406	COL6A2	c.875G>A	p.Gly292Asp (p.G292D)	NM_001849.4 M	SNV	P	1 +	8
283758	COL6A2	c.901G>A	p.Gly301Ser (p.G301S)	NM_001849.4 M	SNV	P	1 +	8
521397	COL6A2	c.902G>A	p.Gly301Asp (p.G301D)	NM_001849.4 M	SNV	P	1 +	8
2094722	COL6A2	c.856-1G>T	--	NM_001849.4 M	SNV	P	1 +	8
850685	COL6A2	c.856-2A>G	--	NM_001849.4 M	SNV	P	1 +	8
2138406	COL6A2	c.875G>A	p.Gly292Asp (p.G292D)	NM_058174.3 MP	SNV	P	1 +	8
283758	COL6A2	c.901G>A	p.Gly301Ser (p.G301S)	NM_058174.3 MP	SNV	P	1 +	8
521397	COL6A2	c.902G>A	p.Gly301Asp (p.G301D)	NM_058174.3 MP	SNV	P	1 +	8
2094722	COL6A2	c.856-1G>T	--	NM_058174.3 MP	SNV	P	1 +	8
850685	COL6A2	c.856-2A>G	--	NM_058174.3 MP	SNV	P	1 +	8
2138406	COL6A2	c.875G>A	p.Gly292Asp (p.G292D)	NM_058175.3	SNV	P	1 +	8
283758	COL6A2	c.901G>A	p.Gly301Ser (p.G301S)	NM_058175.3	SNV	P	1 +	8
521397	COL6A2	c.902G>A	p.Gly301Asp (p.G301D)	NM_058175.3	SNV	P	1 +	8
2094722	COL6A2	c.856-1G>T	--	NM_058175.3	SNV	P	1 +	8
850685	COL6A2	c.856-2A>G	--	NM_058175.3	SNV	P	1 +	8
1351958	COL6A2	c.874G>A	p.Gly292Ser (p.G292S)	NM_001849.4 M	SNV	P	1 +	7
434815	COL6A2	c.902G>T	p.Gly301Val (p.G301V)	NM_001849.4 M	SNV	P	1 +	7
17155	COL6A2	c.811G>A	p.Gly271Ser (p.G271S)	NM_001849.4 M	SNV	P	1 +	7
476493	COL6A2	c.812G>T	p.Gly271Val (p.G271V)	NM_001849.4 M	SNV	P	1 +	7
198473	COL6A2	c.875G>T	p.Gly292Val (p.G292V)	NM_001849.4 M	SNV	P	1 +	7

3437 Results, 20 per Page

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