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Gene: DPAGT1 & Disease: CMS13, 211 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
521719	DPAGT1	c.739C>T	p.Arg247Trp (p.R247W)	NM_001382.4 M	SNV	P	3 +	4
1041325	DPAGT1	c.901C>T	p.Arg301Cys (p.R301C)	NM_001382.4 M	SNV	VUS	2 +	4
1180632	DPAGT1	c.902G>A	p.Arg301His (p.R301H)	NM_001382.4 M	SNV	P	2 +	4
93728	DPAGT1	c.1177A>G	p.Ile393Val (p.I393V)	NM_001382.4 M	SNV	B	5 +	3
36919	DPAGT1	c.324G>C	p.Met108Ile (p.M108I)	NM_001382.4 M	SNV	P	2 +	3
582259	DPAGT1	c.790G>A	p.Val264Met (p.V264M)	NM_001382.4 M	SNV	VUS	2 +	3
302751	DPAGT1	c.125G>A	p.Cys42Tyr (p.C42Y)	NM_001382.4 M	SNV	VUS	2 +	3
1009921	DPAGT1	c.1154T>G	p.Leu385Arg (p.L385R)	NM_001382.4 M	SNV	VUS	2 +	3
12296	DPAGT1	c.509A>G	p.Tyr170Cys (p.Y170C)	NM_001382.4 M	SNV	P	3 +	2
258077	DPAGT1	c.918-18G>A	--	NM_001382.4 M	SNV	LB	2 +	2
1895994	DPAGT1	c.1005+5C>T	--	NM_001382.4 M	SNV	VUS	2 +	2
2009684	DPAGT1	c.283-3C>A	--	NM_001382.4 M	SNV	VUS	2 +	2
667229	DPAGT1	c.643+2T>C	--	NM_001382.4 M	SNV	LP	2 +	2
167007	DPAGT1	c.994T>G	p.Phe332Val (p.F332V)	NM_001382.4 M	SNV	LB	4 +	2
547938	DPAGT1	c.250A>C	p.Lys84Gln (p.K84Q)	NM_001382.4 M	SNV	LB	2 +	2
800886	DPAGT1	c.466C>T	p.Arg156Cys (p.R156C)	NM_001382.4 M	SNV	LP	2 +	2
1001621	DPAGT1	c.14C>T	p.Ser5Leu (p.S5L)	NM_001382.4 M	SNV	VUS	2 +	2
386721	DPAGT1	c.243C>T	p.Cys81= (p.C81=)	NM_001382.4 M	SNV	LB	2 +	2
1480366	DPAGT1	c.644-1G>T	--	NM_001382.4 M	SNV	LP	2 +	2
857268	DPAGT1	c.1161+5G>A	--	NM_001382.4 M	SNV	VUS	2 +	2

211 Results, 20 per Page

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