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Gene: COL4A4 & Disease: Glomerulonephritis, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
550471	COL4A4	c.2638del	p.Ala880fs (p.A880fs)	NM_000092.5 M	Del	P	6 +	8
930186	COL4A4	c.788C>G	p.Pro263Arg (p.P263R)	NM_000092.5 M	SNV	LB	1 +	0
930185	COL4A4	c.854G>A	p.Gly285Glu (p.G285E)	NM_000092.5 M	SNV	LP	1 +	0
930187	COL4A4	c.1246C>G	p.Pro416Ala (p.P416A)	NM_000092.5 M	SNV	LB	5 +	0

共4个结果, 每页展示20条

1

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