Mutation Direct

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Gene: IL7R & Disease: IMD104, 400 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
224841	IL7R	c.361dup	p.Ile121fs (p.I121fs)	NM_002185.5 M	Dup	P	3 +	8
1298987	IL7R	c.616C>T	p.Arg206Ter (p.R206X)	NM_002185.5 M	SNV	P	1 +	7
569326	IL7R	c.83-1G>A	--	NM_002185.5 M	SNV	P	1 +	7
569326	IL7R	c.83-1G>A	--	NM_001410734.1	SNV	P	1 +	7
265195	IL7R	c.221+2T>G	--	NM_002185.5 M	SNV	P	1 +	6
36392	IL7R	c.353G>A	p.Cys118Tyr (p.C118Y)	NM_002185.5 M	SNV	P	2 +	6
265195	IL7R	c.221+2T>G	--	NM_001410734.1	SNV	P	1 +	6
353259	IL7R	c.83-2A>T	--	NM_002185.5 M	SNV	P	1 +	5
353259	IL7R	c.83-2A>T	--	NM_001410734.1	SNV	P	1 +	5
14841	IL7R	c.538-1G>A	--	NM_002185.5 M	SNV	P	1 +	4
14841	IL7R	c.538-1G>A	--	NM_001410734.1	SNV	P	1 +	4
565662	IL7R	c.437_438del	p.Phe146fs (p.F146fs)	NM_002185.5 M	Del	P	2 +	3
14842	IL7R	c.651G>A	p.Trp217Ter (p.W217X)	NM_002185.5 M	SNV	P	1 +	3
2203628	IL7R	c.562del	p.Lys187_Leu188insTer	NM_002185.5 M	Del	P	1 +	3
2203628	IL7R	c.562delC	p.Leu188Terfs (p.L188Terfs)	NM_001410734.1	Del	P	1 +	3
2001194	IL7R	c.800+5C>A	--	NM_002185.5 M	SNV	VUS	1 +	2
850235	IL7R	c.537G>A	p.Thr179= (p.T179=)	NM_002185.5 M	SNV	VUS	1 +	2
1038695	IL7R	c.83-3C>T	--	NM_002185.5 M	SNV	VUS	1 +	2
14839	IL7R	c.197T>C	p.Ile66Thr (p.I66T)	NM_002185.5 M	SNV	LB	1 +	2
14840	IL7R	c.412G>A	p.Val138Ile (p.V138I)	NM_002185.5 M	SNV	B	1 +	2

400 Results, 20 per Page

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