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Gene: PIK3CD & Disease: IMD14B, 45 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
88675	PIK3CD	c.3061G>A	p.Glu1021Lys (p.E1021K)	NM_005026.5 M	SNV	P	4 +	11
	PIK3CD	c.3058G>A	p.Glu1020Lys (p.E1020K)	NM_001350234.2	SNV	P	4 +	11
	PIK3CD	c.2974G>A	p.Glu992Lys (p.E992K)	NM_001350235.1	SNV	P	4 +	11
643256	PIK3CD	c.1955+5C>T	--	NM_005026.5 M	SNV	VUS	4 +	3
969000	PIK3CD	c.1339+4G>A	--	NM_005026.5 M	SNV	VUS	4 +	3
643256	PIK3CD	c.1952+5C>T	--	NM_001350234.2	SNV	VUS	4 +	3
643256	PIK3CD	c.1868+5C>T	--	NM_001350235.1	SNV	VUS	4 +	3
969000	PIK3CD	c.1339+4G>A	--	NM_001350234.2	SNV	VUS	4 +	3
969000	PIK3CD	c.1252+4G>A	--	NM_001350235.1	SNV	VUS	4 +	3
651966	PIK3CD	c.1242G>A	p.Ala414= (p.A414=)	NM_005026.5 M	SNV	VUS	4 +	2
662314	PIK3CD	c.2997G>A	p.Lys999= (p.K999=)	NM_005026.5 M	SNV	VUS	3 +	2
651966	PIK3CD	c.1242G>A	p.Ala414= (p.A414=)	NM_001350234.2	SNV	VUS	4 +	2
651966	PIK3CD	c.1155G>A	p.Ala385= (p.A385=)	NM_001350235.1	SNV	VUS	4 +	2
662314	PIK3CD	c.2994G>A	p.Lys998= (p.K998=)	NM_001350234.2	SNV	VUS	3 +	2
662314	PIK3CD	c.2910G>A	p.Lys970= (p.K970=)	NM_001350235.1	SNV	VUS	3 +	2
1227097	PIK3CD	c.2348-30C>T	--	NM_005026.5 M	SNV	B	4 +	1
811566	PIK3CD	c.2808C>T	p.Tyr936= (p.Y936=)	NM_005026.5 M	SNV	B	4 +	1
1227097	PIK3CD	c.2345-30C>T	--	NM_001350234.2	SNV	B	4 +	1
1227097	PIK3CD	c.2261-30C>T	--	NM_001350235.1	SNV	B	4 +	1
811566	PIK3CD	c.2805C>T	p.Tyr935= (p.Y935=)	NM_001350234.2	SNV	B	4 +	1

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