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基因: CACNA1F & 疾病: AIED, 共54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
285396	CACNA1F	c.2543+1G>A	--	NM_001256789.3 M	SNV	致病突变	3 +	10
	CACNA1F	c.2576+1G>A	--	NM_005183.4	SNV	致病突变	3 +	10
	CACNA1F	c.2381+1G>A	--	NM_001256790.3	SNV	致病突变	3 +	10
425497	CACNA1F	c.3236+1G>A	--	NM_001256789.3 M	SNV	致病突变	1 +	9
	CACNA1F	c.3269+1G>A	--	NM_005183.4	SNV	致病突变	1 +	9
	CACNA1F	c.3074+1G>A	--	NM_001256790.3	SNV	致病突变	1 +	9
195237	CACNA1F	c.244C>T	p.Arg82Ter (p.R82X)	NM_001256789.3 M	SNV	致病突变	2 +	7
265464	CACNA1F	c.1840C>T	p.Arg614Ter (p.R614X)	NM_001256789.3 M	SNV	致病突变	3 +	7
1031513	CACNA1F	c.4260+2del	--	NM_001256789.3 M	Del	致病突变	1 +	7
195237	CACNA1F	c.244C>T	p.Arg82Ter (p.R82X)	NM_005183.4	SNV	致病突变	2 +	7
195237	CACNA1F	c.66-17C>T	--	NM_001256790.3	SNV	致病突变	2 +	7
265464	CACNA1F	c.1678C>T	p.Arg560Ter (p.R560X)	NM_001256790.3	SNV	致病突变	3 +	7
265464	CACNA1F	c.1873C>T	p.Arg625Ter (p.R625X)	NM_005183.4	SNV	致病突变	3 +	7
1031513	CACNA1F	c.4293+2del	--	NM_005183.4	Del	致病突变	1 +	7
1031513	CACNA1F	c.4098+2del	--	NM_001256790.3	Del	致病突变	1 +	7
988786	CACNA1F	c.245G>A	p.Arg82Gln (p.R82Q)	NM_001256789.3 M	SNV	可能致病	2 +	4
	CACNA1F	c.245G>A	p.Arg82Gln (p.R82Q)	NM_005183.4	SNV	可能致病	2 +	4
	CACNA1F	c.66-16G>A	--	NM_001256790.3	SNV	可能致病	2 +	4
208890	CACNA1F	c.1535G>A	p.Arg512His (p.R512H)	NM_001256789.3 M	SNV	可能良性	4 +	2
166778	CACNA1F	c.2673+3G>A	--	NM_001256789.3 M	SNV	可能良性	3 +	2

共54个结果, 每页展示20条

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