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Gene: COL7A1 & Disease: NDNC8, 76 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
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
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
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
503709	COL7A1	c.4027C>T	p.Arg1343Ter (p.R1343X)	NM_000094.4 M	SNV	P	9 +	5
17463	COL7A1	c.6205C>T	p.Arg2069Cys (p.R2069C)	NM_000094.4 M	SNV	P	13 +	5
372345	COL7A1	c.6527dupC	--	NM_000094.4 M	Dup	P	10 +	5
372345	COL7A1	c.6527dup	p.Gly2177fs (p.G2177fs)	NM_000094.4 M	Dup	P	10 +	5
279785	COL7A1	c.1573C>T	p.Arg525Ter (p.R525X)	NM_000094.4 M	SNV	P	10 +	4
345869	COL7A1	c.1637-1G>A	--	NM_000094.4 M	SNV	P	10 +	4
374052	COL7A1	c.2005C>T	p.Arg669Ter (p.R669X)	NM_000094.4 M	SNV	P	11 +	4
17441	COL7A1	c.7787del	p.Gly2596fs (p.G2596fs)	NM_000094.4 M	Del	P	10 +	4

共76个结果, 每页展示20条

Comparison