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基因: JUP & 疾病: NXD, 共5632条

ClinVar	基因	碱基改变	氨基酸改变	转录本ID	突变类型	临床意义	疾病数量	文献数量
179756	JUP	c.56C>T	p.Thr19Ile (p.T19I)	NM_002230.4 M	SNV	良性突变	3 +	10
	JUP	c.56C>T	p.Thr19Ile (p.T19I)	NM_001352773.2	SNV	良性突变	3 +	10
	JUP	c.56C>T	p.Thr19Ile (p.T19I)	NM_001352774.2	SNV	良性突变	3 +	10
	JUP	c.56C>T	p.Thr19Ile (p.T19I)	NM_001352775.2	SNV	良性突变	3 +	10
	JUP	c.56C>T	p.Thr19Ile (p.T19I)	NM_001352776.2	SNV	良性突变	3 +	10
	JUP	c.56C>T	p.Thr19Ile (p.T19I)	NM_001352777.2	SNV	良性突变	3 +	10
	JUP	c.56C>T	p.Thr19Ile (p.T19I)	NM_021991.4	SNV	良性突变	3 +	10
468754	JUP	c.475G>T	p.Val159Leu (p.V159L)	NM_002230.4 M	SNV	可能良性	2 +	9
	JUP	c.475G>T	p.Val159Leu (p.V159L)	NM_001352773.2	SNV	可能良性	2 +	9
	JUP	c.475G>T	p.Val159Leu (p.V159L)	NM_001352774.2	SNV	可能良性	2 +	9
	JUP	c.475G>T	p.Val159Leu (p.V159L)	NM_001352775.2	SNV	可能良性	2 +	9
	JUP	c.475G>T	p.Val159Leu (p.V159L)	NM_001352776.2	SNV	可能良性	2 +	9
	JUP	c.475G>T	p.Val159Leu (p.V159L)	NM_001352777.2	SNV	可能良性	2 +	9
	JUP	c.475G>T	p.Val159Leu (p.V159L)	NM_021991.4	SNV	可能良性	2 +	9
536625	JUP	c.1219G>A	p.Val407Ile (p.V407I)	NM_002230.4 M	SNV	未确定	2 +	6
163710	JUP	c.2069A>G	p.Asn690Ser (p.N690S)	NM_002230.4 M	SNV	可能良性	3 +	6
536625	JUP	c.1219G>A	p.Val407Ile (p.V407I)	NM_001352773.2	SNV	未确定	2 +	6
	JUP	c.1219G>A	p.Val407Ile (p.V407I)	NM_001352774.2	SNV	未确定	2 +	6
	JUP	c.1219G>A	p.Val407Ile (p.V407I)	NM_001352775.2	SNV	未确定	2 +	6
	JUP	c.1219G>A	p.Val407Ile (p.V407I)	NM_001352776.2	SNV	未确定	2 +	6

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