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Gene: EXOSC9 & Disease: PCH1D, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
549845	EXOSC9	c.41T>C	p.Leu14Pro (p.L14P)	NM_005033.3 M	SNV	P	2 +	4
549845	EXOSC9	c.41T>C	p.Leu14Pro (p.L14P)	NM_001034194.2	SNV	P	2 +	4
549846	EXOSC9	c.481C>T	p.Arg161Ter (p.R161X)	NM_005033.3 M	SNV	P	1 +	2
549846	EXOSC9	c.481C>T	p.Arg161Ter (p.R161X)	NM_001034194.2	SNV	P	1 +	2
1687055	EXOSC9	c.239T>G	p.Leu80Arg (p.L80R)	NM_005033.3 M	SNV	P	1 +	1
1687056	EXOSC9	c.484dup	p.Arg162fs (p.R162fs)	NM_005033.3 M	Dup	P	1 +	1
1687057	EXOSC9	c.151G>C	p.Gly51Arg (p.G51R)	NM_005033.3 M	SNV	P	1 +	1
1687055	EXOSC9	c.239T>G	p.Leu80Arg (p.L80R)	NM_001034194.2	SNV	P	1 +	1
1687056	EXOSC9	c.484dup	p.Arg162fs (p.R162fs)	NM_001034194.2	Dup	P	1 +	1
1687057	EXOSC9	c.151G>C	p.Gly51Arg (p.G51R)	NM_001034194.2	SNV	P	1 +	1

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