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基因: ACTA2 & 疾病: Connective Tissue Disease, 共65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
29598	ACTA2	c.536G>A	p.Arg179His (p.R179H)	NM_001613.4 M	SNV	致病突变	6 +	30
	ACTA2	c.536G>A	p.Arg179His (p.R179H)	NM_001141945.3	SNV	致病突变	6 +	30
	ACTA2	c.536G>A	p.Arg179His (p.R179H)	NM_001320855.2	SNV	致病突变	6 +	30
	ACTA2	c.536G>A	p.Arg179His (p.R179H)	NM_001406462.1	SNV	致病突变	6 +	30
	ACTA2	c.536G>A	p.Arg179His (p.R179H)	NM_001406463.1	SNV	致病突变	6 +	30
	ACTA2	c.536G>A	p.Arg179His (p.R179H)	NM_001406464.1	SNV	致病突变	6 +	30
	ACTA2	c.425G>A	p.Arg142His (p.R142H)	NM_001406466.1	SNV	致病突变	6 +	30
	ACTA2	c.407G>A	p.Arg136His (p.R136H)	NM_001406467.1	SNV	致病突变	6 +	30
	ACTA2	c.407G>A	p.Arg136His (p.R136H)	NM_001406468.1	SNV	致病突变	6 +	30
	ACTA2	c.407G>A	p.Arg136His (p.R136H)	NM_001406469.1	SNV	致病突变	6 +	30
	ACTA2	c.536G>A	p.Arg179His (p.R179H)	NM_001406471.1	SNV	致病突变	6 +	30
301509	ACTA2	c.390T>C	p.Asn130= (p.N130=)	NM_001613.4 M	SNV	可能良性	5 +	2
512884	ACTA2	c.606C>T	p.Phe202= (p.F202=)	NM_001613.4 M	SNV	可能良性	4 +	2
301509	ACTA2	c.390T>C	p.Asn130= (p.N130=)	NM_001141945.3	SNV	可能良性	5 +	2
	ACTA2	c.390T>C	p.Asn130= (p.N130=)	NM_001320855.2	SNV	可能良性	5 +	2
	ACTA2	c.390T>C	p.Asn130= (p.N130=)	NM_001406462.1	SNV	可能良性	5 +	2
	ACTA2	c.390T>C	p.Asn130= (p.N130=)	NM_001406463.1	SNV	可能良性	5 +	2
	ACTA2	c.390T>C	p.Asn130= (p.N130=)	NM_001406464.1	SNV	可能良性	5 +	2
	ACTA2	c.279T>C	p.Asn93= (p.N93=)	NM_001406466.1	SNV	可能良性	5 +	2
	ACTA2	c.390T>C	p.Asn130= (p.N130=)	NM_001406471.1	SNV	可能良性	5 +	2

共65个结果, 每页展示20条

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