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Gene: CHAT & Disease: Aspiration Pneumonia, 14 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
523529	CHAT	c.2081C>G	p.Ser694Cys (p.S694C)	NM_020549.5 M	SNV	P	5 +	2
	CHAT	c.1727C>G	p.Ser576Cys (p.S576C)	NM_001142929.2	SNV	P	5 +	2
	CHAT	c.1835C>G	p.Ser612Cys (p.S612C)	NM_001142933.2	SNV	P	5 +	2
	CHAT	c.1727C>G	p.Ser576Cys (p.S576C)	NM_001142934.2	SNV	P	5 +	2
	CHAT	c.1727C>G	p.Ser576Cys (p.S576C)	NM_020984.4	SNV	P	5 +	2
	CHAT	c.1727C>G	p.Ser576Cys (p.S576C)	NM_020985.4	SNV	P	5 +	2
	CHAT	c.1727C>G	p.Ser576Cys (p.S576C)	NM_020986.4	SNV	P	5 +	2
523528	CHAT	c.1061C>T	p.Thr354Met (p.T354M)	NM_020549.5 M	SNV	P	6 +	1
	CHAT	c.707C>T	p.Thr236Met (p.T236M)	NM_001142929.2	SNV	P	6 +	1
	CHAT	c.815C>T	p.Thr272Met (p.T272M)	NM_001142933.2	SNV	P	6 +	1
	CHAT	c.707C>T	p.Thr236Met (p.T236M)	NM_001142934.2	SNV	P	6 +	1
	CHAT	c.707C>T	p.Thr236Met (p.T236M)	NM_020984.4	SNV	P	6 +	1
	CHAT	c.707C>T	p.Thr236Met (p.T236M)	NM_020985.4	SNV	P	6 +	1
	CHAT	c.707C>T	p.Thr236Met (p.T236M)	NM_020986.4	SNV	P	6 +	1

14 Results, 20 per Page

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