Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: SH3BP2 & Disease: CRBM, 2413 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
7548	SH3BP2	c.1253C>G	p.Pro418Arg (p.P418R)	NM_001122681.2 M	SNV	P	1 +	16
	SH3BP2	c.1337C>G	p.Pro446Arg (p.P446R)	NM_001145855.2	SNV	P	1 +	16
	SH3BP2	c.1424C>G	p.Pro475Arg (p.P475R)	NM_001145856.2	SNV	P	1 +	16
	SH3BP2	c.1253C>G	p.Pro418Arg (p.P418R)	NM_003023.4	SNV	P	1 +	16
981612	SH3BP2	c.1244G>T	p.Arg415Leu (p.R415L)	NM_001122681.2 M	SNV	VUS	1 +	10
7551	SH3BP2	c.1244G>A	p.Arg415Gln (p.R415Q)	NM_001122681.2 M	SNV	P	1 +	10
981612	SH3BP2	c.1328G>T	p.Arg443Leu (p.R443L)	NM_001145855.2	SNV	VUS	1 +	10
	SH3BP2	c.1415G>T	p.Arg472Leu (p.R472L)	NM_001145856.2	SNV	VUS	1 +	10
	SH3BP2	c.1244G>T	p.Arg415Leu (p.R415L)	NM_003023.4	SNV	VUS	1 +	10
7551	SH3BP2	c.1328G>A	p.Arg443Gln (p.R443Q)	NM_001145855.2	SNV	P	1 +	10
	SH3BP2	c.1415G>A	p.Arg472Gln (p.R472Q)	NM_001145856.2	SNV	P	1 +	10
	SH3BP2	c.1244G>A	p.Arg415Gln (p.R415Q)	NM_003023.4	SNV	P	1 +	10
7549	SH3BP2	c.1253C>A	p.Pro418His (p.P418H)	NM_001122681.2 M	SNV	P	1 +	8
	SH3BP2	c.1337C>A	p.Pro446His (p.P446H)	NM_001145855.2	SNV	P	1 +	8
	SH3BP2	c.1424C>A	p.Pro475His (p.P475H)	NM_001145856.2	SNV	P	1 +	8
	SH3BP2	c.1253C>A	p.Pro418His (p.P418H)	NM_003023.4	SNV	P	1 +	8
7547	SH3BP2	c.1253C>T	p.Pro418Leu (p.P418L)	NM_001122681.2 M	SNV	P	1 +	7
	SH3BP2	c.1337C>T	p.Pro446Leu (p.P446L)	NM_001145855.2	SNV	P	1 +	7
	SH3BP2	c.1424C>T	p.Pro475Leu (p.P475L)	NM_001145856.2	SNV	P	1 +	7
	SH3BP2	c.1253C>T	p.Pro418Leu (p.P418L)	NM_003023.4	SNV	P	1 +	7

2413 Results, 20 per Page

...

120

121

Comparison