Favorite

Mutation Direct

Effortless mutation search and display tool

Search

Search criteria：

Gene: USH2A & Disease: Ear Malformation, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2356	USH2A	c.2276G>T	p.Cys759Phe (p.C759F)	NM_206933.4 M	SNV	P	7 +	39
2356	USH2A	c.2276G>T	p.Cys759Phe (p.C759F)	NM_007123.6	SNV	P	7 +	39
497414	USH2A	c.1876C>T	p.Arg626Ter (p.R626X)	NM_206933.4 M	SNV	P	5 +	12
497414	USH2A	c.1876C>T	p.Arg626Ter (p.R626X)	NM_007123.6	SNV	P	5 +	12
560525	USH2A	c.7501C>T	p.Gln2501Ter (p.Q2501X)	NM_206933.4 M	SNV	P	2 +	4
1180599	USH2A	c.13792C>T	p.Gln4598Ter (p.Q4598X)	NM_206933.4 M	SNV	P	1 +	0
1180604	USH2A	c.2944dup	p.Cys982fs (p.C982fs)	NM_206933.4 M	Dup	P	1 +	0
1180824	USH2A	c.9945C>A	p.Tyr3315Ter (p.Y3315X)	NM_206933.4 M	SNV	LP	1 +	0
1180604	USH2A	c.2944dupT	--	NM_007123.6	Dup	P	1 +	0
1180604	USH2A	c.2944dup	p.Cys982fs (p.C982fs)	NM_007123.6	Dup	P	1 +	0

10 Results, 20 per Page

1

Comparison

Back to top