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Gene: PIGQ & Disease: MCAHS4, 70 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
453003	PIGQ	c.942+1G>A	--	NM_004204.5 M	SNV	P	2 +	5
453003	PIGQ	c.942+1G>A	--	NM_148920.4	SNV	P	2 +	5
520669	PIGQ	c.968_969del	p.Leu323fs (p.L323fs)	NM_004204.5 M	Del	P	2 +	3
520669	PIGQ	c.968_969del	p.Leu323fs (p.L323fs)	NM_148920.4	Del	P	2 +	3
1164858	PIGQ	c.1567G>A	p.Gly523Ser (p.G523S)	NM_004204.5 M	SNV	B	2 +	2
1164857	PIGQ	c.1532-15T>C	--	NM_004204.5 M	SNV	B	2 +	2
1164856	PIGQ	c.1532-17del	--	NM_004204.5 M	Del	B	2 +	2
1164855	PIGQ	c.1461C>G	p.Leu487= (p.L487=)	NM_004204.5 M	SNV	B	2 +	2
449630	PIGQ	c.1199_1201del	p.Tyr400Del (p.Y400del)	NM_004204.5 M	Del	P	2 +	2
1675110	PIGQ	c.1012C>G	p.Arg338Gly (p.R338G)	NM_004204.5 M	SNV	VUS	2 +	2
1164854	PIGQ	c.639C>T	p.Cys213= (p.C213=)	NM_004204.5 M	SNV	B	2 +	2
183339	PIGQ	c.619C>T	p.Arg207Ter (p.R207X)	NM_004204.5 M	SNV	P	3 +	2
1063676	PIGQ	c.503C>T	p.Thr168Met (p.T168M)	NM_004204.5 M	SNV	VUS	2 +	2
456046	PIGQ	c.350C>T	p.Ala117Val (p.A117V)	NM_004204.5 M	SNV	LB	2 +	2
1324910	PIGQ	c.241del	p.Leu81fs (p.L81fs)	NM_004204.5 M	Del	P	2 +	2
1164853	PIGQ	c.40A>G	p.Thr14Ala (p.T14A)	NM_004204.5 M	SNV	B	2 +	2
1164858	PIGQ	c.1532-600G>A	--	NM_148920.4	SNV	B	2 +	2
1164857	PIGQ	c.1532-650T>C	--	NM_148920.4	SNV	B	2 +	2
1164856	PIGQ	c.1532-652del	--	NM_148920.4	Del	B	2 +	2
1164855	PIGQ	c.1461C>G	p.Leu487= (p.L487=)	NM_148920.4	SNV	B	2 +	2

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