Favorite

Mutation Direct

Effortless mutation search and display tool

Search

Search criteria：

Gene: SERPIND1 & Disease: THPH10, 9 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
930228	SERPIND1	c.220dup	p.Glu74fs (p.E74fs)	NM_000185.4 M	Dup	VUS	1 +	1
1676740	SERPIND1	c.161T>G	p.Leu54Arg (p.L54R)	NM_000185.4 M	SNV	VUS	1 +	1
14952	SERPIND1	c.623G>A	p.Arg208His (p.R208H)	NM_000185.4 M	SNV	P	1 +	1
14953	SERPIND1	c.321dup	p.Val108fs (p.V108fs)	NM_000185.4 M	Dup	P	1 +	1
14954	SERPIND1	c.1429_1430del	p.Phe477fs (p.F477fs)	NM_000185.4 M	Del	P	1 +	1
14955	SERPIND1	c.1385C>T	p.Pro462Leu (p.P462L)	NM_000185.4 M	SNV	P	1 +	1
1676783	SERPIND1	c.700C>T	p.Leu234Phe (p.L234F)	NM_000185.4 M	SNV	VUS	1 +	1
788340	SERPIND1	c.231C>A	p.Asp77Glu (p.D77E)	NM_000185.4 M	SNV	B	1 +	1
1684359	SERPIND1	c.488G>C	p.Gly163Ala (p.G163A)	NM_000185.4 M	SNV	VUS	1 +	0

9 Results, 20 per Page

1

Comparison

Back to top