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Gene: PKD1 & Disease: EHT, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
374097	PKD1	c.8311G>A	p.Glu2771Lys (p.E2771K)	NM_001009944.3 M	SNV	P	4 +	21
374097	PKD1	c.8311G>A	p.Glu2771Lys (p.E2771K)	NM_000296.4	SNV	P	4 +	21
374102	PKD1	c.3520C>T	p.Gln1174Ter (p.Q1174X)	NM_001009944.3 M	SNV	P	2 +	1
374044	PKD1	c.9185T>A	p.Val3062Asp (p.V3062D)	NM_001009944.3 M	SNV	LP	3 +	1
374187	PKD1	c.11524T>C	p.Trp3842Arg (p.W3842R)	NM_001009944.3 M	SNV	P	4 +	1
374102	PKD1	c.3520C>T	p.Gln1174Ter (p.Q1174X)	NM_000296.4	SNV	P	2 +	1
374044	PKD1	c.9185T>A	p.Val3062Asp (p.V3062D)	NM_000296.4	SNV	LP	3 +	1
374187	PKD1	c.11521T>C	p.Trp3841Arg (p.W3841R)	NM_000296.4	SNV	P	4 +	1

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