Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: CCDC65 & Disease: CILD27, 312 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
88685	CCDC65	c.877_878del	p.Ile293fs (p.I293fs)	NM_033124.5 M	MS	P	2 +	4
88685	CCDC65	c.448_449del	p.Ile150fs (p.I150fs)	NM_001286957.2	MS	P	2 +	4
402502	CCDC65	c.933A>G	p.Arg311= (p.R311=)	NM_033124.5 M	SNV	B	1 +	3
402501	CCDC65	c.398A>G	p.His133Arg (p.H133R)	NM_033124.5 M	SNV	B	1 +	3
402503	CCDC65	c.1176C>A	p.Thr392= (p.T392=)	NM_033124.5 M	SNV	B	1 +	3
402504	CCDC65	c.1223A>G	p.Tyr408Cys (p.Y408C)	NM_033124.5 M	SNV	B	1 +	3
1508617	CCDC65	c.470+1G>A	--	NM_033124.5 M	SNV	LP	1 +	3
2053470	CCDC65	c.301-2A>C	--	NM_033124.5 M	SNV	LP	1 +	3
402502	CCDC65	c.504A>G	p.Arg168= (p.R168=)	NM_001286957.2	SNV	B	1 +	3
402501	CCDC65	c.-32A>G	--	NM_001286957.2	SNV	B	1 +	3
402503	CCDC65	c.747C>A	p.Thr249= (p.T249=)	NM_001286957.2	SNV	B	1 +	3
402504	CCDC65	c.794A>G	p.Tyr265Cys (p.Y265C)	NM_001286957.2	SNV	B	1 +	3
1508617	CCDC65	c.41+1G>A	--	NM_001286957.2	SNV	LP	1 +	3
2053470	CCDC65	c.-129-2A>C	--	NM_001286957.2	SNV	LP	1 +	3
474634	CCDC65	c.1134G>A	p.Gly378= (p.G378=)	NM_033124.5 M	SNV	LB	1 +	2
2156089	CCDC65	c.195G>A	p.Trp65Ter (p.W65X)	NM_033124.5 M	SNV	P	1 +	2
648266	CCDC65	c.184A>G	p.Asn62Asp (p.N62D)	NM_033124.5 M	SNV	VUS	1 +	2
262220	CCDC65	c.505C>A	p.His169Asn (p.H169N)	NM_033124.5 M	SNV	B	1 +	2
262221	CCDC65	c.880C>T	p.Arg294Cys (p.R294C)	NM_033124.5 M	SNV	B	1 +	2
1514606	CCDC65	c.300+5G>A	--	NM_033124.5 M	SNV	VUS	1 +	2

312 Results, 20 per Page

...

Comparison