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Gene: WDR19 & Disease: ATD, 38 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
446634	WDR19	c.781dup	p.Thr261fs (p.T261fs)	NM_025132.4 M	Dup	P	5 +	8
127159	WDR19	c.3565+1G>A	--	NM_025132.4 M	SNV	P	6 +	8
446634	WDR19	c.301dup	p.Thr101fs (p.T101fs)	NM_001317924.2	Dup	P	5 +	8
127159	WDR19	c.3085+1G>A	--	NM_001317924.2	SNV	P	6 +	8
558761	WDR19	c.3868_3871del	p.Thr1290fs (p.T1290fs)	NM_025132.4 M	Del	P	2 +	7
558761	WDR19	c.3388_3391del	p.Thr1130fs (p.T1130fs)	NM_001317924.2	Del	P	2 +	7
446641	WDR19	c.1483G>C	p.Gly495Arg (p.G495R)	NM_025132.4 M	SNV	P	4 +	3
446641	WDR19	c.1003G>C	p.Gly335Arg (p.G335R)	NM_001317924.2	SNV	P	4 +	3
446635	WDR19	c.880G>A	p.Gly294Arg (p.G294R)	NM_025132.4 M	SNV	P	4 +	2
446635	WDR19	c.400G>A	p.Gly134Arg (p.G134R)	NM_001317924.2	SNV	P	4 +	2
446633	WDR19	c.817A>G	p.Asn273Asp (p.N273D)	NM_025132.4 M	SNV	P	7 +	1
446638	WDR19	c.3800G>A	p.Cys1267Tyr (p.C1267Y)	NM_025132.4 M	SNV	P	2 +	1
446640	WDR19	c.746T>C	p.Phe249Ser (p.F249S)	NM_025132.4 M	SNV	P	2 +	1
446642	WDR19	c.2563C>T	p.Gln855Ter (p.Q855X)	NM_025132.4 M	SNV	P	2 +	1
446639	WDR19	c.3716+1G>A	--	NM_025132.4 M	SNV	P	2 +	1
446633	WDR19	c.337A>G	p.Asn113Asp (p.N113D)	NM_001317924.2	SNV	P	7 +	1
446638	WDR19	c.3320G>A	p.Cys1107Tyr (p.C1107Y)	NM_001317924.2	SNV	P	2 +	1
446640	WDR19	c.266T>C	p.Phe89Ser (p.F89S)	NM_001317924.2	SNV	P	2 +	1
446642	WDR19	c.2083C>T	p.Gln695Ter (p.Q695X)	NM_001317924.2	SNV	P	2 +	1
446639	WDR19	c.3236+1G>A	--	NM_001317924.2	SNV	P	2 +	1

共38个结果, 每页展示20条

Comparison