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Mutation Direct

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Gene: CARD11 & Disease: IMD11A, 1416 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
48648	CARD11	c.367G>A	p.Gly123Ser (p.G123S)	NM_032415.7 M	SNV	P	4 +	7
48648	CARD11	c.367G>A	p.Gly123Ser (p.G123S)	NM_001324281.3	SNV	P	4 +	7
183144	CARD11	c.368G>A	p.Gly123Asp (p.G123D)	NM_032415.7 M	SNV	P	2 +	5
183144	CARD11	c.368G>A	p.Gly123Asp (p.G123D)	NM_001324281.3	SNV	P	2 +	5
1479301	CARD11	c.864+1G>A	--	NM_032415.7 M	SNV	LP	2 +	4
1521112	CARD11	c.1940+1G>T	--	NM_032415.7 M	SNV	LP	2 +	4
1479301	CARD11	c.864+1G>A	--	NM_001324281.3	SNV	LP	2 +	4
1521112	CARD11	c.1940+1G>T	--	NM_001324281.3	SNV	LP	2 +	4
1378516	CARD11	c.2650dup	p.Arg884fs (p.R884fs)	NM_032415.7 M	Dup	P	2 +	3
540976	CARD11	c.2509C>T	p.Arg837Ter (p.R837X)	NM_032415.7 M	SNV	P	2 +	3
1995060	CARD11	c.2579del	p.Gly860fs (p.G860fs)	NM_032415.7 M	Del	P	2 +	3
1069758	CARD11	c.2062C>T	p.Arg688Ter (p.R688X)	NM_032415.7 M	SNV	P	2 +	3
203461	CARD11	c.146G>A	p.Cys49Tyr (p.C49Y)	NM_032415.7 M	SNV	P	2 +	3
1070449	CARD11	c.793C>T	p.Gln265Ter (p.Q265X)	NM_032415.7 M	SNV	P	2 +	3
1451672	CARD11	c.799del	p.Leu267fs (p.L267fs)	NM_032415.7 M	Del	P	2 +	3
2043569	CARD11	c.1663del	p.Arg555fs (p.R555fs)	NM_032415.7 M	Del	P	2 +	3
1070810	CARD11	c.2437G>T	p.Glu813Ter (p.E813X)	NM_032415.7 M	SNV	P	2 +	3
1068965	CARD11	c.676C>T	p.Gln226Ter (p.Q226X)	NM_032415.7 M	SNV	P	2 +	3
1378516	CARD11	c.2650dup	p.Arg884fs (p.R884fs)	NM_001324281.3	Dup	P	2 +	3
540976	CARD11	c.2509C>T	p.Arg837Ter (p.R837X)	NM_001324281.3	SNV	P	2 +	3

1416 Results, 20 per Page

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