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Mutation Direct

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Gene: TSEN54 & Disease: PCH5, 24 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2120	TSEN54	c.919G>T	p.Ala307Ser (p.A307S)	NM_207346.3 M	SNV	P	11 +	17
2122	TSEN54	c.736C>T	p.Gln246Ter (p.Q246X)	NM_207346.3 M	SNV	P	2 +	4
160123	TSEN54	c.1041G>C	p.Lys347Asn (p.K347N)	NM_207346.3 M	SNV	B	5 +	4
160127	TSEN54	c.1310C>T	p.Ala437Val (p.A437V)	NM_207346.3 M	SNV	B	5 +	4
96670	TSEN54	c.1122G>C	p.Arg374= (p.R374=)	NM_207346.3 M	SNV	B	5 +	4
160134	TSEN54	c.409A>C	p.Ile137Leu (p.I137L)	NM_207346.3 M	SNV	B	5 +	3
96673	TSEN54	c.12G>T	p.Glu4Asp (p.E4D)	NM_207346.3 M	SNV	B	5 +	3
137759	TSEN54	c.1447C>G	p.Pro483Ala (p.P483A)	NM_207346.3 M	SNV	B	5 +	3
212455	TSEN54	c.83C>T	p.Ser28Leu (p.S28L)	NM_207346.3 M	SNV	LB	5 +	3
1491165	TSEN54	c.1186C>T	p.Arg396Trp (p.R396W)	NM_207346.3 M	SNV	VUS	3 +	2
1210718	TSEN54	c.1313G>A	p.Arg438Gln (p.R438Q)	NM_207346.3 M	SNV	VUS	3 +	2
180672	TSEN54	c.468+2T>C	--	NM_207346.3 M	SNV	P	1 +	2
265282	TSEN54	c.670_671del	p.Lys224fs (p.K224fs)	NM_207346.3 M	Del	P	3 +	2
586846	TSEN54	c.1039_1041delinsTAC	p.Lys347Tyr (p.K347Y)	NM_207346.3 M	Indel	VUS	3 +	2
1385645	TSEN54	c.946C>T	p.Arg316Cys (p.R316C)	NM_207346.3 M	SNV	VUS	3 +	2
1219861	TSEN54	c.1136G>A	p.Arg379Gln (p.R379Q)	NM_207346.3 M	SNV	LB	3 +	2
620188	TSEN54	c.1039A>T	p.Lys347Ter (p.K347X)	NM_207346.3 M	SNV	P	3 +	2
212449	TSEN54	c.1057C>T	p.Arg353Trp (p.R353W)	NM_207346.3 M	SNV	VUS	1 +	2
2445207	TSEN54	c.953del	p.Pro318fs (p.P318fs)	NM_207346.3 M	Del	P	3 +	2
198637	TSEN54	c.622C>T	p.Arg208Trp (p.R208W)	NM_207346.3 M	SNV	VUS	3 +	2

24 Results, 20 per Page

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