Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: SH2D1A & Disease: XLP1, 180 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
10898	SH2D1A	c.163C>T	p.Arg55Ter (p.R55X)	NM_002351.5 M	SNV	P	1 +	22
10898	SH2D1A	c.163C>T	p.Arg55Ter (p.R55X)	NM_001114937.3	SNV	P	1 +	22
2138716	SH2D1A	c.295C>T	p.Gln99Ter (p.Q99X)	NM_002351.5 M	SNV	P	1 +	6
632981	SH2D1A	c.347-32_347-28del	--	NM_002351.5 M	Del	LB	1 +	6
2138716	SH2D1A	c.295C>T	p.Gln99Ter (p.Q99X)	NM_001114937.3	SNV	P	1 +	6
632981	SH2D1A	c.338-32_338-28del	--	NM_001114937.3	Del	LB	1 +	6
1455661	SH2D1A	c.2T>C	p.Met1Thr (p.M1T)	NM_002351.5 M	SNV	P	2 +	5
633415	SH2D1A	c.20A>G	p.Tyr7Cys (p.Y7C)	NM_002351.5 M	SNV	P	1 +	5
1455661	SH2D1A	c.2T>C	p.Met1Thr (p.M1T)	NM_001114937.3	SNV	P	2 +	5
633415	SH2D1A	c.20A>G	p.Tyr7Cys (p.Y7C)	NM_001114937.3	SNV	P	1 +	5
1471227	SH2D1A	c.385T>G	p.Ter129Gly (p.X129G)	NM_002351.5 M	SNV	VUS	1 +	4
1458979	SH2D1A	c.191G>A	p.Trp64Ter (p.W64X)	NM_002351.5 M	SNV	P	1 +	4
1518501	SH2D1A	c.201+2T>C	--	NM_002351.5 M	SNV	LP	1 +	4
1471227	SH2D1A	c.376T>G	p.Ter126Gly (p.X126G)	NM_001114937.3	SNV	VUS	1 +	4
1458979	SH2D1A	c.191G>A	p.Trp64Ter (p.W64X)	NM_001114937.3	SNV	P	1 +	4
1518501	SH2D1A	c.201+2T>C	--	NM_001114937.3	SNV	LP	1 +	4
10905	SH2D1A	c.203C>T	p.Thr68Ile (p.T68I)	NM_002351.5 M	SNV	P	1 +	3
871639	SH2D1A	c.164G>A	p.Arg55Gln (p.R55Q)	NM_002351.5 M	SNV	P	1 +	3
970680	SH2D1A	c.197_201+9del	--	NM_002351.5 M	Del	LP	1 +	3
10905	SH2D1A	c.203C>T	p.Thr68Ile (p.T68I)	NM_001114937.3	SNV	P	1 +	3

180 Results, 20 per Page

Comparison