Mutation Direct

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基因: MYL3 & 疾病: Hypertrophic Cardiomyopathy, 共354条

ClinVar	基因	碱基改变	氨基酸改变	转录本ID	突变类型	临床意义	疾病数量	文献数量
31780	MYL3	c.170C>G	p.Ala57Gly (p.A57G)	NM_000258.3 M	SNV	致病突变	2 +	30
43121	MYL3	c.170C>A	p.Ala57Asp (p.A57D)	NM_000258.3 M	SNV	可能致病	4 +	20
14063	MYL3	c.427G>A	p.Glu143Lys (p.E143K)	NM_000258.3 M	SNV	致病突变	3 +	18
43124	MYL3	c.460C>T	p.Arg154Cys (p.R154C)	NM_000258.3 M	SNV	未确定	2 +	14
14062	MYL3	c.461G>A	p.Arg154His (p.R154H)	NM_000258.3 M	SNV	致病突变	3 +	14
31778	MYL3	c.466G>A	p.Val156Met (p.V156M)	NM_000258.3 M	SNV	可能致病	3 +	11
36648	MYL3	c.530A>G	p.Glu177Gly (p.E177G)	NM_000258.3 M	SNV	未确定	3 +	10
14061	MYL3	c.445A>G	p.Met149Val (p.M149V)	NM_000258.3 M	SNV	致病突变	2 +	8
43123	MYL3	c.446T>C	p.Met149Thr (p.M149T)	NM_000258.3 M	SNV	可能致病	2 +	7
177841	MYL3	c.466G>T	p.Val156Leu (p.V156L)	NM_000258.3 M	SNV	致病突变	3 +	7
31779	MYL3	c.517A>G	p.Met173Val (p.M173V)	NM_000258.3 M	SNV	未确定	2 +	7
31777	MYL3	c.281G>A	p.Arg94His (p.R94H)	NM_000258.3 M	SNV	致病突变	3 +	6
918948	MYL3	c.476C>T	p.Thr159Met (p.T159M)	NM_000258.3 M	SNV	未确定	1 +	6
161329	MYL3	c.235G>A	p.Val79Ile (p.V79I)	NM_000258.3 M	SNV	可能致病	3 +	5
2058934	MYL3	c.281G>C	p.Arg94Pro (p.R94P)	NM_000258.3 M	SNV	未确定	1 +	5
181448	MYL3	c.280C>T	p.Arg94Cys (p.R94C)	NM_000258.3 M	SNV	未确定	1 +	5
2058934	MYL3	c.281G>C	p.Arg94Pro (p.R94P)	NM_001406937.1	SNV	未确定	1 +	5
	MYL3	c.281G>C	p.Arg94Pro (p.R94P)	NM_001406938.1	SNV	未确定	1 +	5
	MYL3	c.281G>C	p.Arg94Pro (p.R94P)	NM_001406939.1	SNV	未确定	1 +	5
	MYL3	c.107G>C	p.Arg36Pro (p.R36P)	NM_001406940.1	SNV	未确定	1 +	5

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