Favorite

Mutation Direct

Effortless mutation search and display tool

Search

Search criteria：

Gene: TRPC6 & Disease: FGS, 18 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
301902	TRPC6	c.2088C>T	p.Asn696= (p.N696=)	NM_004621.6 M	SNV	LB	2 +	3
259454	TRPC6	c.1211C>T	p.Ala404Val (p.A404V)	NM_004621.6 M	SNV	B	2 +	3
259458	TRPC6	c.2115C>T	p.Tyr705= (p.Y705=)	NM_004621.6 M	SNV	B	2 +	3
725323	TRPC6	c.837C>T	p.Gly279= (p.G279=)	NM_004621.6 M	SNV	LB	1 +	2
1673701	TRPC6	c.996C>T	p.Leu332= (p.L332=)	NM_004621.6 M	SNV	LB	2 +	2
236162	TRPC6	c.2142G>T	p.Thr714= (p.T714=)	NM_004621.6 M	SNV	LB	2 +	2
1712369	TRPC6	c.2346dup	p.Trp783fs (p.W783fs)	NM_004621.6 M	Dup	LP	1 +	1
1712371	TRPC6	c.2408A>G	p.Lys803Arg (p.K803R)	NM_004621.6 M	SNV	VUS	1 +	1
1712372	TRPC6	c.1196G>A	p.Arg399Gln (p.R399Q)	NM_004621.6 M	SNV	LB	1 +	1
1712378	TRPC6	c.1156C>T	p.Gln386Ter (p.Q386X)	NM_004621.6 M	SNV	VUS	1 +	1
1712382	TRPC6	c.376G>T	p.Val126Phe (p.V126F)	NM_004621.6 M	SNV	VUS	1 +	1
1712394	TRPC6	c.2668G>C	p.Asp890His (p.D890H)	NM_004621.6 M	SNV	VUS	1 +	1
812903	TRPC6	c.2668G>A	p.Asp890Asn (p.D890N)	NM_004621.6 M	SNV	LP	1 +	1
301884	TRPC6	c.710_711insTTTA	--	NM_004621.6 M	Ins	B	1 +	0
301889	TRPC6	c.509_512dup	--	NM_004621.6 M	Dup	LB	1 +	0
301895	TRPC6	c.*33del	--	NM_004621.6 M	Del	LB	1 +	0
301910	TRPC6	c.739C>T	p.Arg247Trp (p.R247W)	NM_004621.6 M	SNV	VUS	1 +	0
301922	TRPC6	c.-319del	--	NM_004621.6 M	Del	VUS	1 +	0

18 Results, 20 per Page

1

Comparison

Back to top