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Gene: F12 & Disease: FA12D, 49 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
1166	F12	c.1681-1G>A	--	NM_000505.4 M	SNV	P	3 +	9
905230	F12	c.1251-9C>A	--	NM_000505.4 M	SNV	B	3 +	6
1167	F12	c.-4T>C	--	NM_000505.4 M	SNV	LB	3 +	3
256309	F12	c.1251-9C>T	--	NM_000505.4 M	SNV	B	6 +	3
256310	F12	c.619G>C	p.Ala207Pro (p.A207P)	NM_000505.4 M	SNV	B	3 +	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
352999	F12	c.711C>T	p.Pro237= (p.P237=)	NM_000505.4 M	SNV	B	3 +	2
352998	F12	c.756C>T	p.Ala252= (p.A252=)	NM_000505.4 M	SNV	B	3 +	2
353001	F12	c.418C>G	p.Leu140Val (p.L140V)	NM_000505.4 M	SNV	LB	3 +	2
353002	F12	c.398-12C>T	--	NM_000505.4 M	SNV	LB	3 +	2
352993	F12	c.1025C>T	p.Pro342Leu (p.P342L)	NM_000505.4 M	SNV	LB	3 +	2
225352	F12	c.1027G>C	p.Ala343Pro (p.A343P)	NM_000505.4 M	SNV	LP	2 +	1
2463318	F12	c.1079G>T	p.Gly360Val (p.G360V)	NM_000505.4 M	SNV	VUS	2 +	1
1164	F12	c.1768T>A	p.Cys590Ser (p.C590S)	NM_000505.4 M	SNV	P	1 +	1
1165	F12	c.1115G>C	p.Arg372Pro (p.R372P)	NM_000505.4 M	SNV	P	1 +	1
1168	F12	c.158A>G	p.Tyr53Cys (p.Y53C)	NM_000505.4 M	SNV	P	3 +	1
1170	F12	c.983C>G	p.Thr328Arg (p.T328R)	NM_000505.4 M	SNV	P	7 +	1
352987	F12	c.1299C>T	p.Asn433= (p.N433=)	NM_000505.4 M	SNV	LB	6 +	1

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