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Gene: TBC1D24 & Disease: FIME, 426 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
207499	TBC1D24	c.457G>A	p.Glu153Lys (p.E153K)	NM_001199107.2 M	SNV	P	8 +	9
207499	TBC1D24	c.457G>A	p.Glu153Lys (p.E153K)	NM_020705.3	SNV	P	8 +	9
130540	TBC1D24	c.641G>A	p.Arg214His (p.R214H)	NM_001199107.2 M	SNV	LB	5 +	7
130540	TBC1D24	c.641G>A	p.Arg214His (p.R214H)	NM_020705.3	SNV	LB	5 +	7
49	TBC1D24	c.1544C>T	p.Ala515Val (p.A515V)	NM_001199107.2 M	SNV	P	5 +	5
130535	TBC1D24	c.1326C>T	p.Tyr442= (p.Y442=)	NM_001199107.2 M	SNV	LB	8 +	5
49	TBC1D24	c.1526C>T	p.Ala509Val (p.A509V)	NM_020705.3	SNV	P	5 +	5
130535	TBC1D24	c.1308C>T	p.Tyr436= (p.Y436=)	NM_020705.3	SNV	LB	8 +	5
130538	TBC1D24	c.1509C>T	p.Ser503= (p.S503=)	NM_001199107.2 M	SNV	LB	8 +	4
130537	TBC1D24	c.1500G>A	p.Ala500= (p.A500=)	NM_001199107.2 M	SNV	LB	4 +	4
139393	TBC1D24	c.204G>A	p.Thr68= (p.T68=)	NM_001199107.2 M	SNV	LB	4 +	4
130538	TBC1D24	c.1491C>T	p.Ser497= (p.S497=)	NM_020705.3	SNV	LB	8 +	4
130537	TBC1D24	c.1482G>A	p.Ala494= (p.A494=)	NM_020705.3	SNV	LB	4 +	4
139393	TBC1D24	c.204G>A	p.Thr68= (p.T68=)	NM_020705.3	SNV	LB	4 +	4
378709	TBC1D24	c.1642G>A	p.Val548Met (p.V548M)	NM_001199107.2 M	SNV	LB	4 +	3
130536	TBC1D24	c.1440G>A	p.Ser480= (p.S480=)	NM_001199107.2 M	SNV	LB	4 +	3
378706	TBC1D24	c.1427C>A	p.Ala476Asp (p.A476D)	NM_001199107.2 M	SNV	LB	8 +	3
208413	TBC1D24	c.1327G>A	p.Glu443Lys (p.E443K)	NM_001199107.2 M	SNV	LB	7 +	3
130534	TBC1D24	c.1143-6C>T	--	NM_001199107.2 M	SNV	LB	8 +	3
139397	TBC1D24	c.1002C>T	p.Ala334= (p.A334=)	NM_001199107.2 M	SNV	LB	4 +	3

共426个结果, 每页展示20条

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