Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: COL18A1 & Disease: Knobloch Syndrome, 757 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
65410	COL18A1	c.3523_3524delCT	--	NM_001379500.1 M	Del	P	6 +	9
	COL18A1	c.3523_3524del	p.Leu1175fs (p.L1175fs)	NM_001379500.1 M	Del	P	6 +	9
	COL18A1	c.4054_4055del	p.Leu1352fs (p.L1352fs)	NM_030582.4	Del	P	6 +	9
	COL18A1	c.4759_4760del	p.Leu1587fs (p.L1587fs)	NM_130444.3	Del	P	6 +	9
	COL18A1	c.4054_4055delCT	--	NM_030582.4	Del	P	6 +	9
403722	COL18A1	c.2673dup	p.Gly892fs (p.G892fs)	NM_001379500.1 M	Dup	P	2 +	5
	COL18A1	c.3213dup	p.Gly1072fs (p.G1072fs)	NM_030582.4	Dup	P	2 +	5
	COL18A1	c.3918dup	p.Gly1307fs (p.G1307fs)	NM_130444.3	Dup	P	2 +	5
17115	COL18A1	c.12-2A>T	--	NM_001379500.1 M	SNV	P	2 +	4
1685646	COL18A1	c.2666_2667insT	p.Gly892fs (p.G892fs)	NM_001379500.1 M	Ins	P	2 +	3
1366287	COL18A1	c.1187_1200dup	p.Pro401fs (p.P401fs)	NM_001379500.1 M	Dup	P	2 +	3
261898	COL18A1	c.2117C>G	p.Pro706Arg (p.P706R)	NM_001379500.1 M	SNV	LB	3 +	3
261908	COL18A1	c.3231A>G	p.Thr1077= (p.T1077=)	NM_001379500.1 M	SNV	B	2 +	3
65411	COL18A1	c.2118dup	p.Gly707fs (p.G707fs)	NM_001379500.1 M	Dup	P	2 +	3
623349	COL18A1	c.2978_2987del	p.Pro993fs (p.P993fs)	NM_001379500.1 M	Del	P	2 +	3
518320	COL18A1	c.107-12592T>C	--	NM_001379500.1 M	SNV	B	3 +	3
438061	COL18A1	c.2368C>T	p.Arg790Ter (p.R790X)	NM_001379500.1 M	SNV	P	3 +	3
447131	COL18A1	c.107-12197G>A	--	NM_001379500.1 M	SNV	LB	2 +	3
1685646	COL18A1	c.3206_3207insT	p.Gly1072fs (p.G1072fs)	NM_030582.4	Ins	P	2 +	3
1685646	COL18A1	c.3911_3912insT	p.Gly1307fs (p.G1307fs)	NM_130444.3	Ins	P	2 +	3

757 Results, 20 per Page

...

Comparison