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Gene: KAT6A & Disease: ARTHS, 143 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
180229	KAT6A	c.3385C>T	p.Arg1129Ter (p.R1129X)	NM_006766.5 M	SNV	P	1 +	7
620554	KAT6A	c.805C>T	p.Arg269Ter (p.R269X)	NM_006766.5 M	SNV	P	1 +	4
1048764	KAT6A	c.1146_1147insG	p.Tyr383fs (p.Y383fs)	NM_006766.5 M	Ins	P	1 +	4
620554	KAT6A	c.805C>T	p.Arg269Ter (p.R269X)	NM_001305878.2	SNV	P	1 +	4
1048764	KAT6A	c.1146_1147insG	p.Tyr383fs (p.Y383fs)	NM_001305878.2	Ins	P	1 +	4
180230	KAT6A	c.3070C>T	p.Arg1024Ter (p.R1024X)	NM_006766.5 M	SNV	P	1 +	2
280873	KAT6A	c.3505C>T	p.Arg1169Ter (p.R1169X)	NM_006766.5 M	SNV	P	1 +	2
1805653	KAT6A	c.3399_3400dup	p.Lys1134fs (p.K1134fs)	NM_006766.5 M	Dup	P	1 +	2
280246	KAT6A	c.3661G>T	p.Glu1221Ter (p.E1221X)	NM_006766.5 M	SNV	P	2 +	2
419627	KAT6A	c.4645G>A	p.Gly1549Ser (p.G1549S)	NM_006766.5 M	SNV	P	1 +	2
626907	KAT6A	c.1928A>G	p.Asn643Ser (p.N643S)	NM_006766.5 M	SNV	P	1 +	1
162180	KAT6A	c.4108G>T	p.Glu1370Ter (p.E1370X)	NM_006766.5 M	SNV	P	1 +	1
975259	KAT6A	c.1663del	p.Gln555fs (p.Q555fs)	NM_006766.5 M	Del	P	1 +	1
180678	KAT6A	c.3879dup	p.Glu1294fs (p.E1294fs)	NM_006766.5 M	Dup	P	2 +	1
975405	KAT6A	c.3034C>T	p.Arg1012Ter (p.R1012X)	NM_006766.5 M	SNV	P	1 +	1
975406	KAT6A	c.4666A>T	p.Ile1556Phe (p.I1556F)	NM_006766.5 M	SNV	LP	1 +	1
828153	KAT6A	c.2218del	p.Arg740fs (p.R740fs)	NM_006766.5 M	Del	P	1 +	1
162616	KAT6A	c.3116_3117del	p.Ile1038_Ser1039insTer	NM_006766.5 M	Del	P	2 +	1
369686	KAT6A	c.4254_4257del	p.Glu1419fs (p.E1419fs)	NM_006766.5 M	Del	P	1 +	1
1805338	KAT6A	c.3377del	p.Ser1126fs (p.S1126fs)	NM_006766.5 M	Del	P	1 +	1

143 Results, 20 per Page

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