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Gene: FLNA & Disease: PVNH1, 4101 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
11775	FLNA	c.5217G>A	p.Thr1739= (p.T1739=)	NM_001110556.2 M	SNV	P	7 +	13
11775	FLNA	c.5193G>A	p.Thr1731= (p.T1731=)	NM_001456.4	SNV	P	7 +	13
11759	FLNA	c.3596C>T	p.Ser1199Leu (p.S1199L)	NM_001110556.2 M	SNV	P	6 +	7
11759	FLNA	c.3596C>T	p.Ser1199Leu (p.S1199L)	NM_001456.4	SNV	P	6 +	7
11761	FLNA	c.3557C>T	p.Ser1186Leu (p.S1186L)	NM_001110556.2 M	SNV	P	7 +	6
11761	FLNA	c.3557C>T	p.Ser1186Leu (p.S1186L)	NM_001456.4	SNV	P	7 +	6
93748	FLNA	c.1286C>T	p.Thr429Met (p.T429M)	NM_001110556.2 M	SNV	LB	12 +	5
93748	FLNA	c.1286C>T	p.Thr429Met (p.T429M)	NM_001456.4	SNV	LB	12 +	5
1499488	FLNA	c.7023+1G>T	--	NM_001110556.2 M	SNV	LP	6 +	4
213492	FLNA	c.2190_2193del	p.Tyr731fs (p.Y731fs)	NM_001110556.2 M	Del	P	6 +	4
1966742	FLNA	c.868+1G>A	--	NM_001110556.2 M	SNV	LP	6 +	4
533566	FLNA	c.5686+1G>C	--	NM_001110556.2 M	SNV	LP	6 +	4
575118	FLNA	c.2565+1G>A	--	NM_001110556.2 M	SNV	P	6 +	4
1066948	FLNA	c.1066-1G>A	--	NM_001110556.2 M	SNV	P	6 +	4
1075551	FLNA	c.2965C>T	p.Gln989Ter (p.Q989X)	NM_001110556.2 M	SNV	P	6 +	4
1068197	FLNA	c.622+1G>A	--	NM_001110556.2 M	SNV	LP	6 +	4
2035128	FLNA	c.4598+1G>A	--	NM_001110556.2 M	SNV	LP	6 +	4
11756	FLNA	c.760G>A	p.Glu254Lys (p.E254K)	NM_001110556.2 M	SNV	P	6 +	4
11770	FLNA	c.1923C>T	p.Gly641= (p.G641=)	NM_001110556.2 M	SNV	P	7 +	4
11772	FLNA	c.586C>T	p.Arg196Trp (p.R196W)	NM_001110556.2 M	SNV	P	7 +	4

4101 Results, 20 per Page

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