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Gene: COL2A1 & Disease: LCPD, 58 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
17393	COL2A1	c.3508G>A	p.Gly1170Ser (p.G1170S)	NM_001844.5 M	SNV	P	2 +	9
17393	COL2A1	c.3301G>A	p.Gly1101Ser (p.G1101S)	NM_033150.3	SNV	P	2 +	9
17366	COL2A1	c.2965C>T	p.Arg989Cys (p.R989C)	NM_001844.5 M	SNV	P	14 +	6
17366	COL2A1	c.2758C>T	p.Arg920Cys (p.R920C)	NM_033150.3	SNV	P	14 +	6
17395	COL2A1	c.1957C>T	p.Arg653Ter (p.R653X)	NM_001844.5 M	SNV	P	14 +	5
17395	COL2A1	c.1750C>T	p.Arg584Ter (p.R584X)	NM_033150.3	SNV	P	14 +	5
195148	COL2A1	c.258C>A	p.Cys86Ter (p.C86X)	NM_001844.5 M	SNV	P	14 +	4
195148	COL2A1	c.86-1522C>A	--	NM_033150.3	SNV	P	14 +	4
258211	COL2A1	c.1545C>A	p.Arg515= (p.R515=)	NM_001844.5 M	SNV	LB	17 +	3
258211	COL2A1	c.1338C>A	p.Arg446= (p.R446=)	NM_033150.3	SNV	LB	17 +	3
516232	COL2A1	c.2160C>A	p.Gly720= (p.G720=)	NM_001844.5 M	SNV	LB	17 +	2
516324	COL2A1	c.4344T>C	p.Thr1448= (p.T1448=)	NM_001844.5 M	SNV	LB	17 +	2
1106196	COL2A1	c.4014C>T	p.Ser1338= (p.S1338=)	NM_001844.5 M	SNV	LB	16 +	2
1524681	COL2A1	c.2795G>A	p.Arg932Gln (p.R932Q)	NM_001844.5 M	SNV	LB	16 +	2
1386179	COL2A1	c.1757G>A	p.Arg586His (p.R586H)	NM_001844.5 M	SNV	B	16 +	2
1125241	COL2A1	c.4419C>T	p.Pro1473= (p.P1473=)	NM_001844.5 M	SNV	LB	16 +	2
1675238	COL2A1	c.3111+5G>A	--	NM_001844.5 M	SNV	VUS	16 +	2
938269	COL2A1	c.1855G>A	p.Glu619Lys (p.E619K)	NM_001844.5 M	SNV	LB	16 +	2

58 Results, 20 per Page

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