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Gene: KAT6B & Disease: PADMAL, 16 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1301894	KAT6B	c.5040C>G	p.Tyr1680Ter (p.Y1680X)	NM_012330.4 M	SNV	P	5 +	1
	KAT6B	c.4491C>G	p.Tyr1497Ter (p.Y1497X)	NM_001256468.2	SNV	P	5 +	1
	KAT6B	c.4164C>G	p.Tyr1388Ter (p.Y1388X)	NM_001256469.2	SNV	P	5 +	1
	KAT6B	c.4002C>G	p.Tyr1334Ter (p.Y1334X)	NM_001370132.1	SNV	P	5 +	1
	KAT6B	c.3351C>G	p.Tyr1117Ter (p.Y1117X)	NM_001370133.1	SNV	P	5 +	1
	KAT6B	c.2955C>G	p.Tyr985Ter (p.Y985X)	NM_001370134.1	SNV	P	5 +	1
	KAT6B	c.2697C>G	p.Tyr899Ter (p.Y899X)	NM_001370135.1	SNV	P	5 +	1
	KAT6B	c.5040C>G	p.Tyr1680Ter (p.Y1680X)	NM_001370136.1	SNV	P	5 +	1
	KAT6B	c.5040C>G	p.Tyr1680Ter (p.Y1680X)	NM_001370137.1	SNV	P	5 +	1
	KAT6B	c.4491C>G	p.Tyr1497Ter (p.Y1497X)	NM_001370138.1	SNV	P	5 +	1
	KAT6B	c.4164C>G	p.Tyr1388Ter (p.Y1388X)	NM_001370139.1	SNV	P	5 +	1
	KAT6B	c.4164C>G	p.Tyr1388Ter (p.Y1388X)	NM_001370140.1	SNV	P	5 +	1
	KAT6B	c.4164C>G	p.Tyr1388Ter (p.Y1388X)	NM_001370141.1	SNV	P	5 +	1
	KAT6B	c.4164C>G	p.Tyr1388Ter (p.Y1388X)	NM_001370142.1	SNV	P	5 +	1
	KAT6B	c.3975C>G	p.Tyr1325Ter (p.Y1325X)	NM_001370143.1	SNV	P	5 +	1
	KAT6B	c.3975C>G	p.Tyr1325Ter (p.Y1325X)	NM_001370144.1	SNV	P	5 +	1

16 Results, 20 per Page

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