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Gene: PLCD1 & Disease: NDNC3, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1333358	PLCD1	c.1016G>T	p.Cys339Phe (p.C339F)	NM_006225.4 M	SNV	VUS	1 +	1
30242	PLCD1	c.562T>C	p.Cys188Arg (p.C188R)	NM_006225.4 M	SNV	P	1 +	1
30239	PLCD1	c.1246C>T	p.Arg416Ter (p.R416X)	NM_006225.4 M	SNV	P	1 +	1
30241	PLCD1	c.1657G>A	p.Ala553Thr (p.A553T)	NM_006225.4 M	SNV	P	1 +	1
30240	PLCD1	c.1724-5_1728del	--	NM_006225.4 M	Del	P	1 +	1
1333358	PLCD1	c.1079G>T	p.Cys360Phe (p.C360F)	NM_001130964.2	SNV	VUS	1 +	1
30242	PLCD1	c.625T>C	p.Cys209Arg (p.C209R)	NM_001130964.2	SNV	P	1 +	1
30239	PLCD1	c.1309C>T	p.Arg437Ter (p.R437X)	NM_001130964.2	SNV	P	1 +	1
30241	PLCD1	c.1720G>A	p.Ala574Thr (p.A574T)	NM_001130964.2	SNV	P	1 +	1
30240	PLCD1	c.1787-5_1791del	--	NM_001130964.2	Del	P	1 +	1

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