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Mutation Direct

Effortless mutation search and display tool

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Gene: F12 & Disease: HAE1, 7 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1169	F12	c.983C>A	p.Thr328Lys (p.T328K)	NM_000505.4 M	SNV	P	5 +	11
256309	F12	c.1251-9C>T	--	NM_000505.4 M	SNV	B	6 +	3
352986	F12	c.1342C>T	p.Arg448Cys (p.R448C)	NM_000505.4 M	SNV	LB	6 +	2
352988	F12	c.1272G>C	p.Thr424= (p.T424=)	NM_000505.4 M	SNV	LB	6 +	2
352987	F12	c.1299C>T	p.Asn433= (p.N433=)	NM_000505.4 M	SNV	LB	6 +	1
369463	F12	c.-62C>T	--	NM_000505.4 M	SNV	LB	5 +	1
352989	F12	c.1251-7C>T	--	NM_000505.4 M	SNV	LB	6 +	0

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