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Gene: SLC34A1 & Disease: Congenital Factor Xii Deficiency, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
352973	SLC34A1	c.1483C>T	p.Arg495Cys (p.R495C)	NM_003052.5 M	SNV	LB	6 +	2
352976	SLC34A1	c.1719A>G	p.Leu573= (p.L573=)	NM_003052.5 M	SNV	LB	8 +	2
352974	SLC34A1	c.1635C>T	p.Gly545= (p.G545=)	NM_003052.5 M	SNV	B	6 +	1
352975	SLC34A1	c.1702C>T	p.His568Tyr (p.H568Y)	NM_003052.5 M	SNV	LB	6 +	1
352979	SLC34A1	c.*179G>A	--	NM_003052.5 M	SNV	LB	6 +	0
352980	SLC34A1	c.*202A>C	--	NM_003052.5 M	SNV	B	6 +	0
352983	SLC34A1	c.*361T>C	--	NM_003052.5 M	SNV	LB	6 +	0
352985	SLC34A1	c.*485G>A	--	NM_003052.5 M	SNV	LB	6 +	0

共8个结果, 每页展示20条

1

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