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Gene: PKD1 & Disease: PCLD1, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
447985	PKD1	c.5014_5015del	p.Arg1672fs (p.R1672fs)	NM_001009944.3 M	Del	P	4 +	16
447985	PKD1	c.5014_5015del	p.Arg1672fs (p.R1672fs)	NM_000296.4	Del	P	4 +	16
433952	PKD1	c.2215C>T	p.Arg739Trp (p.R739W)	NM_001009944.3 M	SNV	P	2 +	1
523387	PKD1	c.5896GTG[1]	p.Val1967Del (p.V1967del)	NM_001009944.3 M	MS	P	4 +	1
997260	PKD1	c.6472C>T	p.Gln2158Ter (p.Q2158X)	NM_001009944.3 M	SNV	P	2 +	1
433952	PKD1	c.2215C>T	p.Arg739Trp (p.R739W)	NM_000296.4	SNV	P	2 +	1
523387	PKD1	c.5896GTG[1]	p.Val1967Del (p.V1967del)	NM_000296.4	MS	P	4 +	1
997260	PKD1	c.6472C>T	p.Gln2158Ter (p.Q2158X)	NM_000296.4	SNV	P	2 +	1

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