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Gene: CHRND & Disease: Ptosis, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
374185	CHRND	c.1385G>T	p.Trp462Leu (p.W462L)	NM_000751.3 M	SNV	LP	1 +	0
374186	CHRND	c.822del	p.Ser274fs (p.S274fs)	NM_000751.3 M	Del	LP	1 +	0
374185	CHRND	c.1340G>T	p.Trp447Leu (p.W447L)	NM_001256657.2	SNV	LP	1 +	0
	CHRND	c.803G>T	p.Trp268Leu (p.W268L)	NM_001311195.2	SNV	LP	1 +	0
	CHRND	c.1082G>T	p.Trp361Leu (p.W361L)	NM_001311196.2	SNV	LP	1 +	0
374186	CHRND	c.777del	p.Ser259fs (p.S259fs)	NM_001256657.2	Del	LP	1 +	0
	CHRND	c.240del	p.Gly81fs (p.G81fs)	NM_001311195.2	Del	LP	1 +	0
	CHRND	c.519del	p.Ser173fs (p.S173fs)	NM_001311196.2	Del	LP	1 +	0

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