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Gene: COL7A1 & Disease: DDEB, 117 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
372330	COL7A1	c.1732C>T	p.Arg578Ter (p.R578X)	NM_000094.4 M	SNV	P	10 +	13
29636	COL7A1	c.425A>G	p.Lys142Arg (p.K142R)	NM_000094.4 M	SNV	P	12 +	12
431810	COL7A1	c.5820G>A	p.Pro1940= (p.P1940=)	NM_000094.4 M	SNV	P	10 +	11
17447	COL7A1	c.6859G>A	p.Gly2287Arg (p.G2287R)	NM_000094.4 M	SNV	P	6 +	11
17450	COL7A1	c.6100G>A	p.Gly2034Arg (p.G2034R)	NM_000094.4 M	SNV	P	5 +	10
17438	COL7A1	c.6127G>A	p.Gly2043Arg (p.G2043R)	NM_000094.4 M	SNV	P	4 +	10
379476	COL7A1	c.6082G>A	p.Gly2028Arg (p.G2028R)	NM_000094.4 M	SNV	P	10 +	9
17446	COL7A1	c.6091G>A	p.Gly2031Ser (p.G2031S)	NM_000094.4 M	SNV	P	10 +	7
279790	COL7A1	c.6190G>A	p.Gly2064Arg (p.G2064R)	NM_000094.4 M	SNV	P	2 +	7
372349	COL7A1	c.7344G>A	p.Val2448= (p.V2448=)	NM_000094.4 M	SNV	P	9 +	7
372342	COL7A1	c.5720_5721delinsAT	p.Gly1907Asp (p.G1907D)	NM_000094.4 M	Indel	P	9 +	7
372332	COL7A1	c.3840del	p.Gly1281fs (p.G1281fs)	NM_000094.4 M	Del	P	5 +	6
279784	COL7A1	c.497dup	p.Val168fs (p.V168fs)	NM_000094.4 M	Dup	P	5 +	6
279784	COL7A1	c.497dupA	--	NM_000094.4 M	Dup	P	5 +	6
17425	COL7A1	c.2471dup	p.Asn825fs (p.N825fs)	NM_000094.4 M	Dup	P	10 +	6
1048010	COL7A1	c.4012G>A	p.Gly1338Arg (p.G1338R)	NM_000094.4 M	SNV	P	10 +	6
620088	COL7A1	c.4894C>T	p.Arg1632Ter (p.R1632X)	NM_000094.4 M	SNV	P	10 +	6
689753	COL7A1	c.7068+5G>A	--	NM_000094.4 M	SNV	P	10 +	6
1047970	COL7A1	c.325_326insCG	p.Glu109fs (p.E109fs)	NM_000094.4 M	Ins	P	6 +	5
503709	COL7A1	c.4027C>T	p.Arg1343Ter (p.R1343X)	NM_000094.4 M	SNV	P	9 +	5

117 Results, 20 per Page

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