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Gene: MYO15A & Disease: Non-Syndromic Genetic Deafness, 15 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
500061	MYO15A	c.1137del	p.Tyr380fs (p.Y380fs)	NM_016239.4 M	Del	P	4 +	6
632271	MYO15A	c.4198G>A	p.Val1400Met (p.V1400M)	NM_016239.4 M	SNV	P	4 +	4
45753	MYO15A	c.5929T>C	p.Cys1977Arg (p.C1977R)	NM_016239.4 M	SNV	B	3 +	3
226780	MYO15A	c.2238G>T	p.Arg746Ser (p.R746S)	NM_016239.4 M	SNV	LB	2 +	3
164570	MYO15A	c.9998G>A	p.Arg3333Gln (p.R3333Q)	NM_016239.4 M	SNV	LB	2 +	2
6950	MYO15A	c.6337A>T	p.Ile2113Phe (p.I2113F)	NM_016239.4 M	SNV	P	3 +	2
623347	MYO15A	c.1171_1177dup	p.Tyr393fs (p.Y393fs)	NM_016239.4 M	Dup	P	3 +	1
666995	MYO15A	c.9517+2T>C	--	NM_016239.4 M	SNV	P	4 +	1
930033	MYO15A	c.10045C>T	p.Gln3349Ter (p.Q3349X)	NM_016239.4 M	SNV	P	3 +	1
504630	MYO15A	c.4497G>T	p.Glu1499Asp (p.E1499D)	NM_016239.4 M	SNV	B	3 +	1
505185	MYO15A	c.996C>G	p.Tyr332Ter (p.Y332X)	NM_016239.4 M	SNV	P	4 +	1
423766	MYO15A	c.1111C>A	p.Pro371Thr (p.P371T)	NM_016239.4 M	SNV	LB	3 +	1
449526	MYO15A	c.4176C>A	p.Tyr1392Ter (p.Y1392X)	NM_016239.4 M	SNV	P	2 +	1
504629	MYO15A	c.1582G>A	p.Gly528Ser (p.G528S)	NM_016239.4 M	SNV	LB	2 +	0
179619	MYO15A	c.5851del	p.Ser1951fs (p.S1951fs)	NM_016239.4 M	Del	P	3 +	0

共15个结果, 每页展示20条

1

Comparison

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