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Mutation Direct

Effortless mutation search and display tool

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Gene: COASY & Disease: NBIA, 15 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
100662	COASY	c.1495C>T	p.Arg499Cys (p.R499C)	NM_025233.7 M	SNV	P	2 +	7
	COASY	c.1495C>T	p.Arg499Cys (p.R499C)	NM_001042529.3	SNV	P	2 +	7
	COASY	c.1582C>T	p.Arg528Cys (p.R528C)	NM_001042532.4	SNV	P	2 +	7
421057	COASY	c.1403_1404dup	p.Ile469Ter (p.I469X)	NM_025233.7 M	MS	P	3 +	3
	COASY	c.1403_1404dup	p.Ile469Ter (p.I469X)	NM_001042529.3	MS	P	3 +	3
	COASY	c.1490_1491dup	p.Ile498Ter (p.I498X)	NM_001042532.4	MS	P	3 +	3
599342	COASY	c.1549_1550del	p.Ser517fs (p.S517fs)	NM_025233.7 M	MS	P	2 +	1
	COASY	c.1549_1550del	p.Ser517fs (p.S517fs)	NM_001042529.3	MS	P	2 +	1
	COASY	c.1636_1637del	p.Ser546fs (p.S546fs)	NM_001042532.4	MS	P	2 +	1
1722462	COASY	c.1068_1069del	p.Cys357fs (p.C357fs)	NM_025233.7 M	Del	LP	1 +	0
1698628	COASY	c.492del	p.Glu164fs (p.E164fs)	NM_025233.7 M	Del	LP	1 +	0
1722462	COASY	c.1068_1069del	p.Cys357fs (p.C357fs)	NM_001042529.3	Del	LP	1 +	0
1722462	COASY	c.1155_1156del	p.Cys386fs (p.C386fs)	NM_001042532.4	Del	LP	1 +	0
1698628	COASY	c.492del	p.Glu164fs (p.E164fs)	NM_001042529.3	Del	LP	1 +	0
1698628	COASY	c.579del	p.Glu193fs (p.E193fs)	NM_001042532.4	Del	LP	1 +	0

15 Results, 20 per Page

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