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Gene: F5 & Disease: THPH1, 200 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
627404	F5	c.911G>A	p.Gly304Glu (p.G304E)	NM_000130.5 M	SNV	LP	2 +	5
627209	F5	c.1128G>T	p.Arg376Ser (p.R376S)	NM_000130.5 M	SNV	VUS	5 +	2
627349	F5	c.6179G>A	p.Gly2060Asp (p.G2060D)	NM_000130.5 M	SNV	LP	4 +	2
787578	F5	c.4589A>C	p.Glu1530Ala (p.E1530A)	NM_000130.5 M	SNV	LB	5 +	2
255194	F5	c.2235T>C	p.Asn745= (p.N745=)	NM_000130.5 M	SNV	LB	5 +	2
255202	F5	c.2773A>G	p.Lys925Glu (p.K925E)	NM_000130.5 M	SNV	LB	5 +	2
627078	F5	c.4862G>A	p.Arg1621Gln (p.R1621Q)	NM_000130.5 M	SNV	VUS	1 +	1
293590	F5	c.5054C>G	p.Thr1685Ser (p.T1685S)	NM_000130.5 M	SNV	LB	6 +	1
713561	F5	c.5245C>G	p.Leu1749Val (p.L1749V)	NM_000130.5 M	SNV	LB	6 +	1
632086	F5	c.5646G>A	p.Trp1882Ter (p.W1882X)	NM_000130.5 M	SNV	B	4 +	1
579171	F5	c.5265A>G	p.Ile1755Met (p.I1755M)	NM_000130.5 M	SNV	LB	7 +	1
293635	F5	c.885C>T	p.Thr295= (p.T295=)	NM_000130.5 M	SNV	LB	5 +	1
874517	F5	c.1546G>T	p.Ala516Ser (p.A516S)	NM_000130.5 M	SNV	VUS	5 +	0
876600	F5	c.586+11C>A	--	NM_000130.5 M	SNV	LB	3 +	0
874569	F5	c.*376A>T	--	NM_000130.5 M	SNV	LB	3 +	0
874570	F5	c.1297-13T>C	--	NM_000130.5 M	SNV	LB	5 +	0
876651	F5	c.5729C>T	p.Pro1910Leu (p.P1910L)	NM_000130.5 M	SNV	VUS	3 +	0
874621	F5	c.*75G>A	--	NM_000130.5 M	SNV	VUS	5 +	0
874622	F5	c.1033C>T	p.Arg345Trp (p.R345W)	NM_000130.5 M	SNV	LB	5 +	0
874623	F5	c.1021C>T	p.Arg341Cys (p.R341C)	NM_000130.5 M	SNV	B	3 +	0

200 Results, 20 per Page

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