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Gene: POFUT1 & Disease: DDD2, 73 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
445499	POFUT1	c.542+11G>T	--	NM_015352.2 M	SNV	LB	1 +	2
683580	POFUT1	c.75T>C	p.Pro25= (p.P25=)	NM_015352.2 M	SNV	B	1 +	2
445499	POFUT1	c.542+11G>T	--	NM_172236.2	SNV	LB	1 +	2
683580	POFUT1	c.75T>C	p.Pro25= (p.P25=)	NM_172236.2	SNV	B	1 +	2
1170434	POFUT1	c.542+11G>C	--	NM_015352.2 M	SNV	LB	1 +	1
710154	POFUT1	c.900G>A	p.Ser300= (p.S300=)	NM_015352.2 M	SNV	LB	1 +	1
1096718	POFUT1	c.234T>G	p.Pro78= (p.P78=)	NM_015352.2 M	SNV	LB	1 +	1
1536532	POFUT1	c.600C>T	p.Pro200= (p.P200=)	NM_015352.2 M	SNV	LB	1 +	1
1533470	POFUT1	c.836C>T	p.Thr279Met (p.T279M)	NM_015352.2 M	SNV	LB	1 +	1
2185758	POFUT1	c.1116G>A	p.Pro372= (p.P372=)	NM_015352.2 M	SNV	LB	1 +	1
1169451	POFUT1	c.867G>A	p.Glu289= (p.E289=)	NM_015352.2 M	SNV	B	1 +	1
570946	POFUT1	c.90C>G	p.Asp30Glu (p.D30E)	NM_015352.2 M	SNV	VUS	1 +	1
940614	POFUT1	c.637G>C	p.Val213Leu (p.V213L)	NM_015352.2 M	SNV	VUS	1 +	1
760405	POFUT1	c.147T>C	p.Asp49= (p.D49=)	NM_015352.2 M	SNV	B	1 +	1
1165427	POFUT1	c.741C>T	p.Asn247= (p.N247=)	NM_015352.2 M	SNV	B	1 +	1
1560693	POFUT1	c.1032C>T	p.Leu344= (p.L344=)	NM_015352.2 M	SNV	LB	1 +	1
1548923	POFUT1	c.736-13C>T	--	NM_015352.2 M	SNV	B	1 +	1
541310	POFUT1	c.1155G>A	p.Arg385= (p.R385=)	NM_015352.2 M	SNV	LB	1 +	1
778880	POFUT1	c.1158C>T	p.Asp386= (p.D386=)	NM_015352.2 M	SNV	B	1 +	1
1543816	POFUT1	c.542+10G>T	--	NM_015352.2 M	SNV	B	1 +	1

73 Results, 20 per Page

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