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Gene: COL2A1 & Disease: ACG2, 134 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
449001	COL2A1	c.905C>T	p.Ala302Val (p.A302V)	NM_001844.5 M	SNV	P	16 +	12
449001	COL2A1	c.698C>T	p.Ala233Val (p.A233V)	NM_033150.3	SNV	P	16 +	12
17383	COL2A1	c.1693C>T	p.Arg565Cys (p.R565C)	NM_001844.5 M	SNV	P	4 +	11
1224342	COL2A1	c.3121G>A	p.Gly1041Ser (p.G1041S)	NM_001844.5 M	SNV	P	2 +	11
17383	COL2A1	c.1486C>T	p.Arg496Cys (p.R496C)	NM_033150.3	SNV	P	4 +	11
1224342	COL2A1	c.2914G>A	p.Gly972Ser (p.G972S)	NM_033150.3	SNV	P	2 +	11
17368	COL2A1	c.823C>T	p.Arg275Cys (p.R275C)	NM_001844.5 M	SNV	P	4 +	7
438682	COL2A1	c.3062_3079del	p.Pro1021_Gly1026del	NM_001844.5 M	Del	LP	1 +	7
17368	COL2A1	c.616C>T	p.Arg206Cys (p.R206C)	NM_033150.3	SNV	P	4 +	7
438682	COL2A1	c.2855_2872del	p.Pro952_Gly957del	NM_033150.3	Del	LP	1 +	7
17366	COL2A1	c.2965C>T	p.Arg989Cys (p.R989C)	NM_001844.5 M	SNV	P	14 +	6
374042	COL2A1	c.3023G>T	p.Gly1008Val (p.G1008V)	NM_001844.5 M	SNV	P	1 +	6
17366	COL2A1	c.2758C>T	p.Arg920Cys (p.R920C)	NM_033150.3	SNV	P	14 +	6
374042	COL2A1	c.2816G>T	p.Gly939Val (p.G939V)	NM_033150.3	SNV	P	1 +	6
17395	COL2A1	c.1957C>T	p.Arg653Ter (p.R653X)	NM_001844.5 M	SNV	P	14 +	5
501233	COL2A1	c.3149G>A	p.Gly1050Asp (p.G1050D)	NM_001844.5 M	SNV	LP	1 +	5
2506270	COL2A1	c.1267G>A	p.Gly423Ser (p.G423S)	NM_001844.5 M	SNV	LP	1 +	5
17395	COL2A1	c.1750C>T	p.Arg584Ter (p.R584X)	NM_033150.3	SNV	P	14 +	5
501233	COL2A1	c.2942G>A	p.Gly981Asp (p.G981D)	NM_033150.3	SNV	LP	1 +	5
2506270	COL2A1	c.1060G>A	p.Gly354Ser (p.G354S)	NM_033150.3	SNV	LP	1 +	5

134 Results, 20 per Page

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