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Gene: GLDN & Disease: Polyhydramnios, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
268107	GLDN	c.1240C>T	p.Arg414Ter (p.R414X)	NM_181789.4 M	SNV	P	2 +	2
268107	GLDN	c.868C>T	p.Arg290Ter (p.R290X)	NM_001330297.2	SNV	P	2 +	2
488521	GLDN	c.1305G>A	p.Trp435Ter (p.W435X)	NM_181789.4 M	SNV	P	3 +	1
978637	GLDN	c.1027G>A	p.Gly343Ser (p.G343S)	NM_181789.4 M	SNV	LP	1 +	1
488521	GLDN	c.933G>A	p.Trp311Ter (p.W311X)	NM_001330297.2	SNV	P	3 +	1
978637	GLDN	c.655G>A	p.Gly219Ser (p.G219S)	NM_001330297.2	SNV	LP	1 +	1

共6个结果, 每页展示20条

1

Comparison

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