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Gene: APRT & Disease: MPS4, 12 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
321166	APRT	c.97C>T	p.Leu33= (p.L33=)	NM_000485.3 M	SNV	LB	3 +	1
321167	APRT	c.90G>T	p.Ser30= (p.S30=)	NM_000485.3 M	SNV	LB	3 +	1
321166	APRT	c.97C>T	p.Leu33= (p.L33=)	NM_001030018.2	SNV	LB	3 +	1
321167	APRT	c.90G>T	p.Ser30= (p.S30=)	NM_001030018.2	SNV	LB	3 +	1
321155	APRT	c.*182A>G	--	NM_000485.3 M	SNV	LB	3 +	0
321161	APRT	c.*47T>C	--	NM_000485.3 M	SNV	LB	3 +	0
321162	APRT	c.*3A>G	--	NM_000485.3 M	SNV	LB	3 +	0
321156	APRT	c.*178A>G	--	NM_000485.3 M	SNV	B	3 +	0
321155	APRT	c.*186A>G	--	NM_001030018.2	SNV	LB	3 +	0
321161	APRT	c.*51T>C	--	NM_001030018.2	SNV	LB	3 +	0
321162	APRT	c.*7A>G	--	NM_001030018.2	SNV	LB	3 +	0
321156	APRT	c.*182A>G	--	NM_001030018.2	SNV	B	3 +	0

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