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Gene: COL11A1 & Disease: FBCG1, 16 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
29649	COL11A1	c.3943G>T	p.Gly1315Ter (p.G1315X)	NM_001854.4 M	SNV	P	1 +	2
	COL11A1	c.3826G>T	p.Gly1276Ter (p.G1276X)	NM_001190709.2	SNV	P	1 +	2
	COL11A1	c.3979G>T	p.Gly1327Ter (p.G1327X)	NM_080629.3	SNV	P	1 +	2
	COL11A1	c.3595G>T	p.Gly1199Ter (p.G1199X)	NM_080630.4	SNV	P	1 +	2
29646	COL11A1	c.1786dup	p.Ala596fs (p.A596fs)	NM_001854.4 M	Dup	P	1 +	1
29647	COL11A1	c.3241G>C	p.Gly1081Arg (p.G1081R)	NM_001854.4 M	SNV	P	1 +	1
29648	COL11A1	c.2350G>C	p.Gly784Arg (p.G784R)	NM_001854.4 M	SNV	P	1 +	1
29646	COL11A1	c.1669dup	p.Ala557fs (p.A557fs)	NM_001190709.2	Dup	P	1 +	1
	COL11A1	c.1822dup	p.Ala608fs (p.A608fs)	NM_080629.3	Dup	P	1 +	1
	COL11A1	c.1438dup	p.Ala480fs (p.A480fs)	NM_080630.4	Dup	P	1 +	1
29647	COL11A1	c.3124G>C	p.Gly1042Arg (p.G1042R)	NM_001190709.2	SNV	P	1 +	1
	COL11A1	c.3277G>C	p.Gly1093Arg (p.G1093R)	NM_080629.3	SNV	P	1 +	1
	COL11A1	c.2893G>C	p.Gly965Arg (p.G965R)	NM_080630.4	SNV	P	1 +	1
29648	COL11A1	c.2233G>C	p.Gly745Arg (p.G745R)	NM_001190709.2	SNV	P	1 +	1
	COL11A1	c.2386G>C	p.Gly796Arg (p.G796R)	NM_080629.3	SNV	P	1 +	1
	COL11A1	c.2002G>C	p.Gly668Arg (p.G668R)	NM_080630.4	SNV	P	1 +	1

16 Results, 20 per Page

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