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Gene: PKHD1 & Disease: ADPKD, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
96387	PKHD1	c.2341C>T	p.Arg781Ter (p.R781X)	NM_138694.4 M	SNV	P	4 +	7
96387	PKHD1	c.2341C>T	p.Arg781Ter (p.R781X)	NM_170724.3	SNV	P	4 +	7
1255539	PKHD1	c.5360G>T	p.Cys1787Phe (p.C1787F)	NM_138694.4 M	SNV	LP	4 +	3
1255539	PKHD1	c.5360G>T	p.Cys1787Phe (p.C1787F)	NM_170724.3	SNV	LP	4 +	3
1255561	PKHD1	c.8519G>A	p.Arg2840His (p.R2840H)	NM_138694.4 M	SNV	LB	2 +	2
1255561	PKHD1	c.8519G>A	p.Arg2840His (p.R2840H)	NM_170724.3	SNV	LB	2 +	2
1255562	PKHD1	c.8776C>G	p.Arg2926Gly (p.R2926G)	NM_138694.4 M	SNV	VUS	1 +	0
1255562	PKHD1	c.8776C>G	p.Arg2926Gly (p.R2926G)	NM_170724.3	SNV	VUS	1 +	0

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