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Mutation Direct

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Gene: PRKCSH & Disease: PCLD1, 720 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1048653	PRKCSH	c.374_375del	p.Glu125fs (p.E125fs)	NM_001289104.2 M	MS	P	3 +	3
	PRKCSH	c.374_375del	p.Glu125fs (p.E125fs)	NM_001001329.3	MS	P	3 +	3
	PRKCSH	c.374_375del	p.Glu125fs (p.E125fs)	NM_001289102.2	MS	P	3 +	3
	PRKCSH	c.374_375del	p.Glu125fs (p.E125fs)	NM_001289103.2	MS	P	3 +	3
	PRKCSH	c.374_375del	p.Glu125fs (p.E125fs)	NM_001379608.1	MS	P	3 +	3
	PRKCSH	c.374_375del	p.Glu125fs (p.E125fs)	NM_001379609.1	MS	P	3 +	3
	PRKCSH	c.374_375del	p.Glu125fs (p.E125fs)	NM_002743.3	MS	P	3 +	3
	PRKCSH	c.374_375delAG	--	NM_002743.3	MS	P	3 +	3
328195	PRKCSH	c.1392C>T	p.His464= (p.H464=)	NM_001289104.2 M	SNV	LB	1 +	2
328196	PRKCSH	c.1536G>A	p.Glu512= (p.E512=)	NM_001289104.2 M	SNV	LB	1 +	2
328197	PRKCSH	c.1590C>T	p.Asp530= (p.D530=)	NM_001289104.2 M	SNV	LB	1 +	2
1553432	PRKCSH	c.1005C>T	p.Ser335= (p.S335=)	NM_001289104.2 M	SNV	LB	1 +	2
759358	PRKCSH	c.975G>A	p.Glu325= (p.E325=)	NM_001289104.2 M	SNV	LB	1 +	2
1466436	PRKCSH	c.627G>T	p.Gln209His (p.Q209H)	NM_001289104.2 M	SNV	VUS	1 +	2
1640028	PRKCSH	c.279C>T	p.Asn93= (p.N93=)	NM_001289104.2 M	SNV	LB	1 +	2
1255532	PRKCSH	c.841C>T	p.Arg281Trp (p.R281W)	NM_001289104.2 M	SNV	VUS	3 +	2
1430144	PRKCSH	c.543G>C	p.Glu181Asp (p.E181D)	NM_001289104.2 M	SNV	VUS	1 +	2
1546933	PRKCSH	c.683+9C>A	--	NM_001289104.2 M	SNV	LB	1 +	2
1409228	PRKCSH	c.251C>T	p.Pro84Leu (p.P84L)	NM_001289104.2 M	SNV	VUS	1 +	2
1541333	PRKCSH	c.438G>A	p.Glu146= (p.E146=)	NM_001289104.2 M	SNV	LB	1 +	2

720 Results, 20 per Page

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