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Gene: TYMS & Disease: DKCD, 13 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1693538	TYMS	c.534_535insTG	p.Met179Ter (p.M179X)	NM_001071.4 M	Ins	P	2 +	1
1693537	TYMS	c.486_487del	p.Arg163fs (p.R163fs)	NM_001071.4 M	Del	P	2 +	1
1693537	TYMS	c.486_487delAA	--	NM_001071.4 M	Del	P	2 +	1
1693536	TYMS	c.480A>T	p.Gln160His (p.Q160H)	NM_001071.4 M	SNV	P	2 +	1
1693535	TYMS	c.343C>T	p.Arg115Ter (p.R115X)	NM_001071.4 M	SNV	P	2 +	1
1693538	TYMS	c.285_286insTG	p.Met96Ter (p.M96X)	NM_001354868.2	Ins	P	2 +	1
1693538	TYMS	c.455-1541_455-1540insTG	--	NM_001354867.2	Ins	P	2 +	1
1693537	TYMS	c.237_238del	p.Arg80fs (p.R80fs)	NM_001354868.2	Del	P	2 +	1
1693537	TYMS	c.455-1589_455-1588del	--	NM_001354867.2	Del	P	2 +	1
1693536	TYMS	c.231A>T	p.Gln77His (p.Q77H)	NM_001354868.2	SNV	P	2 +	1
1693536	TYMS	c.455-1595A>T	--	NM_001354867.2	SNV	P	2 +	1
1693535	TYMS	c.343C>T	p.Arg115Ter (p.R115X)	NM_001354867.2	SNV	P	2 +	1
1693535	TYMS	c.205+4262C>T	--	NM_001354868.2	SNV	P	2 +	1

13 Results, 20 per Page

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