Favorite

Mutation Direct

Effortless mutation search and display tool

Search

Search criteria：

Gene: IL7R & Disease: SCID, 14 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
36392	IL7R	c.353G>A	p.Cys118Tyr (p.C118Y)	NM_002185.5 M	SNV	P	2 +	6
565662	IL7R	c.437_438del	p.Phe146fs (p.F146fs)	NM_002185.5 M	Del	P	2 +	3
2445731	IL7R	c.788T>A	p.Leu263Ter (p.L263X)	NM_002185.5 M	SNV	P	1 +	3
36391	IL7R	c.271_280dup	p.Ile94fs (p.I94fs)	NM_002185.5 M	Dup	P	1 +	2
36396	IL7R	c.644G>T	p.Gly215Val (p.G215V)	NM_002185.5 M	SNV	LP	2 +	2
353271	IL7R	c.*266dup	--	NM_002185.5 M	Dup	VUS	1 +	0
353272	IL7R	c.*334AAAG[4]	--	NM_002185.5 M	MS	LB	1 +	0
353299	IL7R	c.*1902del	--	NM_002185.5 M	Del	LB	1 +	0
599352	IL7R	c.707-2A>G	--	NM_002185.5 M	SNV	P	1 +	0
36393	IL7R	c.539A>C	p.His180Pro (p.H180P)	NM_002185.5 M	SNV	LP	2 +	0
36394	IL7R	c.616_617delinsTA	p.Arg206Ter (p.R206X)	NM_002185.5 M	Indel	LP	1 +	0
36397	IL7R	c.83-18A>G	--	NM_002185.5 M	SNV	VUS	1 +	0
599352	IL7R	c.706+799A>G	--	NM_001410734.1	SNV	P	1 +	0

14 Results, 20 per Page

1

Comparison

Back to top