Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: PTDSS1 & Disease: LMHD, 28 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
97034	PTDSS1	c.1058A>G	p.Gln353Arg (p.Q353R)	NM_014754.3 M	SNV	P	1 +	5
97034	PTDSS1	c.620A>G	p.Gln207Arg (p.Q207R)	NM_001290225.2	SNV	P	1 +	5
1278468	PTDSS1	c.1073+48T>A	--	NM_014754.3 M	SNV	B	1 +	1
97036	PTDSS1	c.794T>C	p.Leu265Pro (p.L265P)	NM_014754.3 M	SNV	P	1 +	1
97035	PTDSS1	c.805C>T	p.Pro269Ser (p.P269S)	NM_014754.3 M	SNV	P	1 +	1
2582475	PTDSS1	c.275C>T	p.Pro92Leu (p.P92L)	NM_014754.3 M	SNV	VUS	1 +	1
1278468	PTDSS1	c.635+48T>A	--	NM_001290225.2	SNV	B	1 +	1
97036	PTDSS1	c.356T>C	p.Leu119Pro (p.L119P)	NM_001290225.2	SNV	P	1 +	1
97035	PTDSS1	c.367C>T	p.Pro123Ser (p.P123S)	NM_001290225.2	SNV	P	1 +	1
2582475	PTDSS1	c.3+10722C>T	--	NM_001290225.2	SNV	VUS	1 +	1
2441809	PTDSS1	c.686G>A	p.Gly229Asp (p.G229D)	NM_014754.3 M	SNV	VUS	1 +	0
802426	PTDSS1	c.953C>T	p.Pro318Leu (p.P318L)	NM_014754.3 M	SNV	VUS	1 +	0
2435277	PTDSS1	c.1404T>A	p.Asn468Lys (p.N468K)	NM_014754.3 M	SNV	VUS	1 +	0
1279187	PTDSS1	c.1242+27A>G	--	NM_014754.3 M	SNV	B	1 +	0
930583	PTDSS1	c.247A>C	p.Ile83Leu (p.I83L)	NM_014754.3 M	SNV	VUS	1 +	0
1027889	PTDSS1	c.848C>T	p.Ser283Phe (p.S283F)	NM_014754.3 M	SNV	LP	1 +	0
429519	PTDSS1	c.284G>A	p.Arg95Gln (p.R95Q)	NM_014754.3 M	SNV	P	1 +	0
1273820	PTDSS1	c.1312+12_1312+17del	--	NM_014754.3 M	MS	B	1 +	0
800750	PTDSS1	c.932T>G	p.Phe311Cys (p.F311C)	NM_014754.3 M	SNV	VUS	1 +	0
2441809	PTDSS1	c.248G>A	p.Gly83Asp (p.G83D)	NM_001290225.2	SNV	VUS	1 +	0

28 Results, 20 per Page

Comparison