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Gene: ASXL1 & Disease: BOPS, 273 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
30989	ASXL1	c.2197C>T	p.Gln733Ter (p.Q733X)	NM_015338.6 M	SNV	P	1 +	20
1698479	ASXL1	c.2324del	p.Arg774_Leu775insTer	NM_015338.6 M	Del	LP	1 +	20
426927	ASXL1	c.1934dup	p.Gly646fs (p.G646fs)	NM_015338.6 M	Dup	P	1 +	20
812900	ASXL1	c.1900_1922del	p.Glu635fs (p.E635fs)	NM_015338.6 M	Del	P	2 +	20
30989	ASXL1	c.2014C>T	p.Gln672Ter (p.Q672X)	NM_001363734.1	SNV	P	1 +	20
1698479	ASXL1	c.2141del	p.Arg713_Leu714insTer	NM_001363734.1	Del	LP	1 +	20
426927	ASXL1	c.1751dup	p.Gly585fs (p.G585fs)	NM_001363734.1	Dup	P	1 +	20
812900	ASXL1	c.1717_1739del	p.Glu574fs (p.E574fs)	NM_001363734.1	Del	P	2 +	20
620281	ASXL1	c.2077C>T	p.Arg693Ter (p.R693X)	NM_015338.6 M	SNV	P	2 +	18
620281	ASXL1	c.1894C>T	p.Arg632Ter (p.R632X)	NM_001363734.1	SNV	P	2 +	18
521420	ASXL1	c.4127dup	p.Pro1377fs (p.P1377fs)	NM_015338.6 M	Dup	P	2 +	4
521420	ASXL1	c.3944dup	p.Pro1316fs (p.P1316fs)	NM_001363734.1	Dup	P	2 +	4
727152	ASXL1	c.1633C>T	p.Arg545Cys (p.R545C)	NM_015338.6 M	SNV	LB	1 +	2
338077	ASXL1	c.374-9C>T	--	NM_015338.6 M	SNV	LB	2 +	2
338079	ASXL1	c.582C>T	p.His194= (p.H194=)	NM_015338.6 M	SNV	B	1 +	2
338076	ASXL1	c.252+11T>C	--	NM_015338.6 M	SNV	LB	2 +	2
338091	ASXL1	c.1965C>T	p.Thr655= (p.T655=)	NM_015338.6 M	SNV	B	1 +	2
338092	ASXL1	c.2110G>A	p.Gly704Arg (p.G704R)	NM_015338.6 M	SNV	LB	1 +	2
338095	ASXL1	c.2250C>T	p.Pro750= (p.P750=)	NM_015338.6 M	SNV	B	1 +	2
338096	ASXL1	c.2337T>G	p.Pro779= (p.P779=)	NM_015338.6 M	SNV	LB	1 +	2

273 Results, 20 per Page

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