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Mutation Direct

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Gene: MYH7 & Disease: CMH1, 505 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
14087	MYH7	c.1208G>A	p.Arg403Gln (p.R403Q)	NM_000257.4 M	SNV	P	10 +	55
42875	MYH7	c.1988G>A	p.Arg663His (p.R663H)	NM_000257.4 M	SNV	P	10 +	52
14095	MYH7	c.2167C>T	p.Arg723Cys (p.R723C)	NM_000257.4 M	SNV	P	10 +	50
14120	MYH7	c.2609G>A	p.Arg870His (p.R870H)	NM_000257.4 M	SNV	P	2 +	48
14104	MYH7	c.2155C>T	p.Arg719Trp (p.R719W)	NM_000257.4 M	SNV	P	10 +	46
14089	MYH7	c.1357C>T	p.Arg453Cys (p.R453C)	NM_000257.4 M	SNV	P	3 +	46
42901	MYH7	c.2389G>A	p.Ala797Thr (p.A797T)	NM_000257.4 M	SNV	P	18 +	44
36642	MYH7	c.5135G>A	p.Arg1712Gln (p.R1712Q)	NM_000257.4 M	SNV	P	10 +	42
164401	MYH7	c.427C>T	p.Arg143Trp (p.R143W)	NM_000257.4 M	SNV	P	2 +	35
177667	MYH7	c.2606G>A	p.Arg869His (p.R869H)	NM_000257.4 M	SNV	P	10 +	33
14088	MYH7	c.746G>A	p.Arg249Gln (p.R249Q)	NM_000257.4 M	SNV	P	10 +	33
161326	MYH7	c.2608C>T	p.Arg870Cys (p.R870C)	NM_000257.4 M	SNV	P	10 +	32
42941	MYH7	c.2945T>C	p.Met982Thr (p.M982T)	NM_000257.4 M	SNV	LB	11 +	31
14091	MYH7	c.1816G>A	p.Val606Met (p.V606M)	NM_000257.4 M	SNV	P	8 +	31
14107	MYH7	c.2156G>A	p.Arg719Gln (p.R719Q)	NM_000257.4 M	SNV	P	2 +	31
43006	MYH7	c.428G>A	p.Arg143Gln (p.R143Q)	NM_000257.4 M	SNV	P	10 +	29
42874	MYH7	c.1987C>T	p.Arg663Cys (p.R663C)	NM_000257.4 M	SNV	P	10 +	28
43003	MYH7	c.4258C>T	p.Arg1420Trp (p.R1420W)	NM_000257.4 M	SNV	P	10 +	28
42992	MYH7	c.4130C>T	p.Thr1377Met (p.T1377M)	NM_000257.4 M	SNV	P	10 +	27
164294	MYH7	c.4066G>A	p.Glu1356Lys (p.E1356K)	NM_000257.4 M	SNV	P	3 +	25

505 Results, 20 per Page

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