Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: MINPP1 & Disease: PCH16, 29 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1342137	MINPP1	c.1008C>G	p.Ser336Arg (p.S336R)	NM_004897.5 M	SNV	VUS	1 +	1
1325784	MINPP1	c.851C>A	p.Ala284Asp (p.A284D)	NM_004897.5 M	SNV	LP	1 +	1
1285618	MINPP1	c.223_224insGGGGG	p.Glu75fs (p.E75fs)	NM_004897.5 M	Ins	P	1 +	1
1285619	MINPP1	c.157T>G	p.Tyr53Asp (p.Y53D)	NM_004897.5 M	SNV	P	1 +	1
1285620	MINPP1	c.300del	p.Lys101fs (p.K101fs)	NM_004897.5 M	Del	P	1 +	1
1285621	MINPP1	c.75_94del	p.Leu27fs (p.L27fs)	NM_004897.5 M	Del	P	1 +	1
1285622	MINPP1	c.1456G>A	p.Glu486Lys (p.E486K)	NM_004897.5 M	SNV	P	1 +	1
1285623	MINPP1	c.1210C>T	p.Arg404Ter (p.R404X)	NM_004897.5 M	SNV	P	1 +	1
1285624	MINPP1	c.992T>G	p.Ile331Ser (p.I331S)	NM_004897.5 M	SNV	P	1 +	1
1526393	MINPP1	c.682T>C	p.Phe228Leu (p.F228L)	NM_004897.5 M	SNV	VUS	1 +	1
1526394	MINPP1	c.1202G>A	p.Arg401Gln (p.R401Q)	NM_004897.5 M	SNV	VUS	1 +	1
1342137	MINPP1	c.405C>G	p.Ser135Arg (p.S135R)	NM_001178118.2	SNV	VUS	1 +	1
1342137	MINPP1	c.835+12577C>G	--	NM_001178117.2	SNV	VUS	1 +	1
1325784	MINPP1	c.248C>A	p.Ala83Asp (p.A83D)	NM_001178118.2	SNV	LP	1 +	1
1325784	MINPP1	c.835+4606C>A	--	NM_001178117.2	SNV	LP	1 +	1
1285618	MINPP1	c.223_224insGGGGG	p.Glu75fs (p.E75fs)	NM_001178117.2	Ins	P	1 +	1
1285619	MINPP1	c.157T>G	p.Tyr53Asp (p.Y53D)	NM_001178117.2	SNV	P	1 +	1
1285620	MINPP1	c.300del	p.Lys101fs (p.K101fs)	NM_001178117.2	Del	P	1 +	1
1285621	MINPP1	c.75_94del	p.Leu27fs (p.L27fs)	NM_001178117.2	Del	P	1 +	1
1285622	MINPP1	c.*285G>A	--	NM_001178117.2	SNV	P	1 +	1

29 Results, 20 per Page

Comparison