Favorite

Mutation Direct

Effortless mutation search and display tool

Search

Search criteria：

Gene: PTCH1 & Disease: ASGD5, 16 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
221968	PTCH1	c.2695A>G	p.Ile899Val (p.I899V)	NM_000264.5 M	SNV	LP	3 +	3
	PTCH1	c.2692A>G	p.Ile898Val (p.I898V)	NM_001083603.3 MP	SNV	LP	3 +	3
	PTCH1	c.2497A>G	p.Ile833Val (p.I833V)	NM_001083602.3	SNV	LP	3 +	3
	PTCH1	c.2242A>G	p.Ile748Val (p.I748V)	NM_001083604.3	SNV	LP	3 +	3
	PTCH1	c.2242A>G	p.Ile748Val (p.I748V)	NM_001083605.3	SNV	LP	3 +	3
	PTCH1	c.2242A>G	p.Ile748Val (p.I748V)	NM_001083606.3	SNV	LP	3 +	3
	PTCH1	c.2242A>G	p.Ile748Val (p.I748V)	NM_001083607.3	SNV	LP	3 +	3
	PTCH1	c.2539A>G	p.Ile847Val (p.I847V)	NM_001354918.2	SNV	LP	3 +	3
132723	PTCH1	c.3947A>G	p.Tyr1316Cys (p.Y1316C)	NM_000264.5 M	SNV	LP	6 +	2
	PTCH1	c.3944A>G	p.Tyr1315Cys (p.Y1315C)	NM_001083603.3 MP	SNV	LP	6 +	2
	PTCH1	c.3749A>G	p.Tyr1250Cys (p.Y1250C)	NM_001083602.3	SNV	LP	6 +	2
	PTCH1	c.3494A>G	p.Tyr1165Cys (p.Y1165C)	NM_001083604.3	SNV	LP	6 +	2
	PTCH1	c.3494A>G	p.Tyr1165Cys (p.Y1165C)	NM_001083605.3	SNV	LP	6 +	2
	PTCH1	c.3494A>G	p.Tyr1165Cys (p.Y1165C)	NM_001083606.3	SNV	LP	6 +	2
	PTCH1	c.3494A>G	p.Tyr1165Cys (p.Y1165C)	NM_001083607.3	SNV	LP	6 +	2
	PTCH1	c.3791A>G	p.Tyr1264Cys (p.Y1264C)	NM_001354918.2	SNV	LP	6 +	2

16 Results, 20 per Page

1

Comparison

Back to top