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Gene: EPAS1 & Disease: ECYT4, 139 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
6469	EPAS1	c.1609G>A	p.Gly537Arg (p.G537R)	NM_001430.5 M	SNV	P	1 +	9
1699154	EPAS1	c.1604T>C	p.Met535Thr (p.M535T)	NM_001430.5 M	SNV	P	1 +	6
6470	EPAS1	c.1603A>G	p.Met535Val (p.M535V)	NM_001430.5 M	SNV	P	1 +	2
336258	EPAS1	c.1035-7C>G	--	NM_001430.5 M	SNV	B	1 +	1
6468	EPAS1	c.1609G>T	p.Gly537Trp (p.G537W)	NM_001430.5 M	SNV	P	1 +	1
2441240	EPAS1	c.241G>A	p.Ala81Thr (p.A81T)	NM_001430.5 M	SNV	VUS	1 +	0
2441241	EPAS1	c.2009C>G	p.Pro670Arg (p.P670R)	NM_001430.5 M	SNV	VUS	1 +	0
2441242	EPAS1	c.2069G>A	p.Arg690Gln (p.R690Q)	NM_001430.5 M	SNV	VUS	1 +	0
336219	EPAS1	c.-471C>T	--	NM_001430.5 M	SNV	B	1 +	0
336220	EPAS1	c.-452A>C	--	NM_001430.5 M	SNV	VUS	1 +	0
336222	EPAS1	c.-347T>G	--	NM_001430.5 M	SNV	VUS	1 +	0
336223	EPAS1	c.-316C>A	--	NM_001430.5 M	SNV	VUS	1 +	0
336224	EPAS1	c.-255G>T	--	NM_001430.5 M	SNV	VUS	1 +	0
336225	EPAS1	c.-231C>G	--	NM_001430.5 M	SNV	VUS	1 +	0
336226	EPAS1	c.-200A>C	--	NM_001430.5 M	SNV	VUS	1 +	0
336227	EPAS1	c.-140G>A	--	NM_001430.5 M	SNV	B	1 +	0
336228	EPAS1	c.-138G>T	--	NM_001430.5 M	SNV	VUS	1 +	0
336229	EPAS1	c.-111G>C	--	NM_001430.5 M	SNV	VUS	1 +	0
336230	EPAS1	c.-102C>G	--	NM_001430.5 M	SNV	VUS	1 +	0
336231	EPAS1	c.-86C>T	--	NM_001430.5 M	SNV	VUS	1 +	0

139 Results, 20 per Page

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