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Gene: COL11A1 & Disease: FBCG1, 842 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1032776	COL11A1	c.3816+2dup	--	NM_001854.4 M	Dup	P	2 +	5
	COL11A1	c.3699+2dup	--	NM_001190709.2	Dup	P	2 +	5
	COL11A1	c.3852+2dup	--	NM_080629.3	Dup	P	2 +	5
	COL11A1	c.3468+2dup	--	NM_080630.4	Dup	P	2 +	5
1324096	COL11A1	c.1245+1G>A	--	NM_001854.4 M	SNV	P	5 +	4
	COL11A1	c.1128+1G>A	--	NM_001190709.2	SNV	P	5 +	4
	COL11A1	c.1281+1G>A	--	NM_080629.3	SNV	P	5 +	4
	COL11A1	c.898-972G>A	--	NM_080630.4	SNV	P	5 +	4
196779	COL11A1	c.2578T>A	p.Phe860Ile (p.F860I)	NM_001854.4 M	SNV	LB	3 +	2
281428	COL11A1	c.2241+6T>C	--	NM_001854.4 M	SNV	VUS	5 +	2
166922	COL11A1	c.4032G>A	p.Pro1344= (p.P1344=)	NM_001854.4 M	SNV	LB	3 +	2
291528	COL11A1	c.1899+3A>G	--	NM_001854.4 M	SNV	VUS	2 +	2
874960	COL11A1	c.1351-3T>A	--	NM_001854.4 M	SNV	VUS	2 +	2
196779	COL11A1	c.2461T>A	p.Phe821Ile (p.F821I)	NM_001190709.2	SNV	LB	3 +	2
	COL11A1	c.2614T>A	p.Phe872Ile (p.F872I)	NM_080629.3	SNV	LB	3 +	2
	COL11A1	c.2230T>A	p.Phe744Ile (p.F744I)	NM_080630.4	SNV	LB	3 +	2
281428	COL11A1	c.2124+6T>C	--	NM_001190709.2	SNV	VUS	5 +	2
	COL11A1	c.2277+6T>C	--	NM_080629.3	SNV	VUS	5 +	2
	COL11A1	c.1893+6T>C	--	NM_080630.4	SNV	VUS	5 +	2
166922	COL11A1	c.3915G>A	p.Pro1305= (p.P1305=)	NM_001190709.2	SNV	LB	3 +	2

共842个结果, 每页展示20条

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