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Gene: TECPR2 & Disease: HSP, 130 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
967521	TECPR2	c.2708C>T	p.Thr903Met (p.T903M)	NM_014844.5 M	SNV	VUS	4 +	4
374308	TECPR2	c.1319del	p.Leu440fs (p.L440fs)	NM_014844.5 M	Del	P	4 +	4
967521	TECPR2	c.2708C>T	p.Thr903Met (p.T903M)	NM_001172631.3	SNV	VUS	4 +	4
374308	TECPR2	c.1319delT	--	NM_001172631.3	Del	P	4 +	4
374308	TECPR2	c.1319del	p.Leu440fs (p.L440fs)	NM_001172631.3	Del	P	4 +	4
240924	TECPR2	c.2941C>A	p.Gln981Lys (p.Q981K)	NM_014844.5 M	SNV	LB	4 +	2
698411	TECPR2	c.4149G>A	p.Thr1383= (p.T1383=)	NM_014844.5 M	SNV	LB	4 +	2
1145656	TECPR2	c.4116G>A	p.Pro1372= (p.P1372=)	NM_014844.5 M	SNV	LB	4 +	2
1309855	TECPR2	c.4085C>T	p.Thr1362Ile (p.T1362I)	NM_014844.5 M	SNV	VUS	4 +	2
385226	TECPR2	c.4089G>A	p.Ala1363= (p.A1363=)	NM_014844.5 M	SNV	LB	4 +	2
696092	TECPR2	c.4065C>T	p.Ser1355= (p.S1355=)	NM_014844.5 M	SNV	LB	4 +	2
540304	TECPR2	c.4081+8C>A	--	NM_014844.5 M	SNV	LB	4 +	2
991464	TECPR2	c.4035C>T	p.Ala1345= (p.A1345=)	NM_014844.5 M	SNV	LB	4 +	2
696533	TECPR2	c.4033G>A	p.Ala1345Thr (p.A1345T)	NM_014844.5 M	SNV	LB	4 +	2
697720	TECPR2	c.4014C>T	p.Gly1338= (p.G1338=)	NM_014844.5 M	SNV	LB	4 +	2
695783	TECPR2	c.3831C>T	p.Asn1277= (p.N1277=)	NM_014844.5 M	SNV	LB	4 +	2
572101	TECPR2	c.3797G>T	p.Gly1266Val (p.G1266V)	NM_014844.5 M	SNV	VUS	4 +	2
701401	TECPR2	c.3603G>A	p.Thr1201= (p.T1201=)	NM_014844.5 M	SNV	LB	4 +	2
696689	TECPR2	c.3582G>A	p.Thr1194= (p.T1194=)	NM_014844.5 M	SNV	LB	4 +	2
1344155	TECPR2	c.3475C>T	p.Arg1159Trp (p.R1159W)	NM_014844.5 M	SNV	VUS	4 +	2

共130个结果, 每页展示20条

Comparison