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Gene: PI4KA & Disease: GIDID2, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
623974	PI4KA	c.5596G>A	p.Asp1866Asn (p.D1866N)	NM_058004.4 M	SNV	VUS	3 +	1
1335865	PI4KA	c.4867T>G	p.Tyr1623Asp (p.Y1623D)	NM_058004.4 M	SNV	P	1 +	1
623974	PI4KA	c.5503G>A	p.Asp1835Asn (p.D1835N)	NM_001362862.2	SNV	VUS	3 +	1
623974	PI4KA	c.5530G>A	p.Asp1844Asn (p.D1844N)	NM_001362863.2	SNV	VUS	3 +	1
1335865	PI4KA	c.4774T>G	p.Tyr1592Asp (p.Y1592D)	NM_001362862.2	SNV	P	1 +	1
1335865	PI4KA	c.4801T>G	p.Tyr1601Asp (p.Y1601D)	NM_001362863.2	SNV	P	1 +	1

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