Favorite

Mutation Direct

Effortless mutation search and display tool

Search

Search criteria：

Gene: KITLG & Disease: FPHH, 14 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
12813	KITLG	c.107A>G	p.Asn36Ser (p.N36S)	NM_000899.5 M	SNV	P	1 +	3
517646	KITLG	c.130-11dup	--	NM_000899.5 M	Dup	LB	3 +	3
12813	KITLG	c.107A>G	p.Asn36Ser (p.N36S)	NM_003994.6	SNV	P	1 +	3
517646	KITLG	c.130-11dup	--	NM_003994.6	Dup	LB	3 +	3
183168	KITLG	c.98T>C	p.Val33Ala (p.V33A)	NM_000899.5 M	SNV	P	1 +	2
183168	KITLG	c.98T>C	p.Val33Ala (p.V33A)	NM_003994.6	SNV	P	1 +	2
1708119	KITLG	c.320T>A	p.Ile107Lys (p.I107K)	NM_000899.5 M	SNV	VUS	1 +	1
183169	KITLG	c.100A>C	p.Thr34Pro (p.T34P)	NM_000899.5 M	SNV	P	1 +	1
1708119	KITLG	c.320T>A	p.Ile107Lys (p.I107K)	NM_003994.6	SNV	VUS	1 +	1
183169	KITLG	c.100A>C	p.Thr34Pro (p.T34P)	NM_003994.6	SNV	P	1 +	1
1710166	KITLG	c.108T>G	p.Asn36Lys (p.N36K)	NM_000899.5 M	SNV	P	1 +	0
1803991	KITLG	c.106A>C	p.Asn36His (p.N36H)	NM_000899.5 M	SNV	LP	1 +	0
1710166	KITLG	c.108T>G	p.Asn36Lys (p.N36K)	NM_003994.6	SNV	P	1 +	0
1803991	KITLG	c.106A>C	p.Asn36His (p.N36H)	NM_003994.6	SNV	LP	1 +	0

14 Results, 20 per Page

1

Comparison

Back to top