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Gene: ANKRD11 & Disease: KBGS, 3261 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
279678	ANKRD11	c.1903_1907delAAACA	--	NM_013275.6 M	MS	P	3 +	15
	ANKRD11	c.1903_1907del	p.Lys635fs (p.K635fs)	NM_013275.6 M	MS	P	3 +	15
	ANKRD11	c.1903_1907delAAACA	--	NM_001256182.2	MS	P	3 +	15
	ANKRD11	c.1903_1907del	p.Lys635fs (p.K635fs)	NM_001256182.2	MS	P	3 +	15
	ANKRD11	c.1903_1907del	p.Lys635fs (p.K635fs)	NM_001256183.2	MS	P	3 +	15
280209	ANKRD11	c.1801C>T	p.Arg601Ter (p.R601X)	NM_013275.6 M	SNV	P	1 +	10
209131	ANKRD11	c.2398_2401del	p.Glu800fs (p.E800fs)	NM_013275.6 M	Del	P	2 +	10
209131	ANKRD11	c.2398_2401delGAAA	--	NM_013275.6 M	Del	P	2 +	10
280209	ANKRD11	c.1801C>T	p.Arg601Ter (p.R601X)	NM_001256182.2	SNV	P	1 +	10
280209	ANKRD11	c.1801C>T	p.Arg601Ter (p.R601X)	NM_001256183.2	SNV	P	1 +	10
209131	ANKRD11	c.2398_2401del	p.Glu800fs (p.E800fs)	NM_001256182.2	Del	P	2 +	10
	ANKRD11	c.2398_2401del	p.Glu800fs (p.E800fs)	NM_001256183.2	Del	P	2 +	10
	ANKRD11	c.2398_2401delGAAA	--	NM_001256182.2	Del	P	2 +	10
266033	ANKRD11	c.2408_2412del	p.Lys803fs (p.K803fs)	NM_013275.6 M	Del	P	1 +	8
	ANKRD11	c.2408_2412delAAAAA	--	NM_013275.6 M	Del	P	1 +	8
	ANKRD11	c.2408_2412del	p.Lys803fs (p.K803fs)	NM_001256182.2	Del	P	1 +	8
	ANKRD11	c.2408_2412del	p.Lys803fs (p.K803fs)	NM_001256183.2	Del	P	1 +	8
	ANKRD11	c.2408_2412delAAAAA	--	NM_001256182.2	Del	P	1 +	8
420179	ANKRD11	c.3224_3227del	p.Glu1075fs (p.E1075fs)	NM_013275.6 M	MS	P	1 +	7
633578	ANKRD11	c.1381_1384delGAAA	--	NM_013275.6 M	MS	P	1 +	7

3261 Results, 20 per Page

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