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基因: CAST & 疾病: PLACK, 共175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
189336	CAST	c.1873del	p.Val625fs (p.V625fs)	NM_001750.7 M	Del	致病突变	1 +	2
	CAST	c.1750del	p.Val584fs (p.V584fs)	NM_001042440.5	Del	致病突变	1 +	2
	CAST	c.1816del	p.Val606fs (p.V606fs)	NM_001042441.3	Del	致病突变	1 +	2
	CAST	c.1807del	p.Val603fs (p.V603fs)	NM_001042442.3	Del	致病突变	1 +	2
	CAST	c.1624del	p.Val542fs (p.V542fs)	NM_001042443.3	Del	致病突变	1 +	2
	CAST	c.1501del	p.Val501fs (p.V501fs)	NM_001042444.3	Del	致病突变	1 +	2
	CAST	c.1519del	p.Val507fs (p.V507fs)	NM_001042445.3	Del	致病突变	1 +	2
	CAST	c.1462del	p.Val488fs (p.V488fs)	NM_001042446.3	Del	致病突变	1 +	2
	CAST	c.1585del	p.Val529fs (p.V529fs)	NM_001190442.2	Del	致病突变	1 +	2
	CAST	c.1501del	p.Val501fs (p.V501fs)	NM_001284212.4	Del	致病突变	1 +	2
	CAST	c.1408del	p.Val470fs (p.V470fs)	NM_001284213.4	Del	致病突变	1 +	2
	CAST	c.1777del	p.Val593fs (p.V593fs)	NM_001330626.2	Del	致病突变	1 +	2
	CAST	c.1750del	p.Val584fs (p.V584fs)	NM_001330627.2	Del	致病突变	1 +	2
	CAST	c.1705del	p.Val569fs (p.V569fs)	NM_001330628.2	Del	致病突变	1 +	2
	CAST	c.1789del	p.Val597fs (p.V597fs)	NM_001330629.2	Del	致病突变	1 +	2
	CAST	c.1462del	p.Val488fs (p.V488fs)	NM_001330630.2	Del	致病突变	1 +	2
	CAST	c.1585del	p.Val529fs (p.V529fs)	NM_001330631.2	Del	致病突变	1 +	2
	CAST	c.1558del	p.Val520fs (p.V520fs)	NM_001330632.2	Del	致病突变	1 +	2
	CAST	c.1567del	p.Val523fs (p.V523fs)	NM_001330633.2	Del	致病突变	1 +	2
	CAST	c.1528del	p.Val510fs (p.V510fs)	NM_001330634.2	Del	致病突变	1 +	2

175 Results, 20 per Page

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