Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: TNPO3 & Disease: LGMDD2, 4180 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
591000	TNPO3	c.2767del	p.Arg923fs (p.R923fs)	NM_012470.4 M	Del	LP	1 +	4
	TNPO3	c.2575del	p.Arg859fs (p.R859fs)	NM_001191028.3	Del	LP	1 +	4
	TNPO3	c.2869del	p.Arg957fs (p.R957fs)	NM_001382216.1	Del	LP	1 +	4
	TNPO3	c.2848del	p.Arg950fs (p.R950fs)	NM_001382217.1	Del	LP	1 +	4
	TNPO3	c.2659del	p.Arg887fs (p.R887fs)	NM_001382219.1	Del	LP	1 +	4
	TNPO3	c.2626del	p.Arg876fs (p.R876fs)	NM_001382220.1	Del	LP	1 +	4
	TNPO3	c.2623del	p.Arg875fs (p.R875fs)	NM_001382221.1	Del	LP	1 +	4
	TNPO3	c.2620del	p.Arg874fs (p.R874fs)	NM_001382222.1	Del	LP	1 +	4
	TNPO3	c.2520-1875del	--	NM_001382223.1	Del	LP	1 +	4
	TNPO3	c.2712-1875del	--	NM_001382218.1	Del	LP	1 +	4
135660	TNPO3	c.2771del	p.Ter924CysextTer?CysextTer (p.X924CysextTer?CysextTer)	NM_012470.4 M	Del	P	1 +	3
	TNPO3	c.2579del	p.Ter860CysextTer?CysextTer (p.X860CysextTer?CysextTer)	NM_001191028.3	Del	P	1 +	3
	TNPO3	c.2873del	p.Ter958CysextTer?CysextTer (p.X958CysextTer?CysextTer)	NM_001382216.1	Del	P	1 +	3
	TNPO3	c.2852del	p.Ter951CysextTer?CysextTer (p.X951CysextTer?CysextTer)	NM_001382217.1	Del	P	1 +	3
	TNPO3	c.2663del	p.Ter888CysextTer?CysextTer (p.X888CysextTer?CysextTer)	NM_001382219.1	Del	P	1 +	3
	TNPO3	c.2630del	p.Ter877CysextTer?CysextTer (p.X877CysextTer?CysextTer)	NM_001382220.1	Del	P	1 +	3
	TNPO3	c.2627del	p.Ter876CysextTer?CysextTer (p.X876CysextTer?CysextTer)	NM_001382221.1	Del	P	1 +	3
	TNPO3	c.2624del	p.Ter875CysextTer?CysextTer (p.X875CysextTer?CysextTer)	NM_001382222.1	Del	P	1 +	3
	TNPO3	c.2520-1871del	--	NM_001382223.1	Del	P	1 +	3
	TNPO3	c.2712-1871del	--	NM_001382218.1	Del	P	1 +	3

4180 Results, 20 per Page

...

208

209

Comparison