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基因: STEEP1 & 疾病: XLID107, 共30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
1803748	STEEP1	c.229_230del	p.Met77fs (p.M77fs)	NM_022101.4 M	Del	未确定	1 +	1
1255437	STEEP1	c.375C>T	p.Gly125= (p.G125=)	NM_022101.4 M	SNV	良性突变	1 +	1
1255438	STEEP1	c.-2T>C	--	NM_022101.4 M	SNV	良性突变	1 +	1
1029843	STEEP1	c.158G>T	p.Arg53Leu (p.R53L)	NM_022101.4 M	SNV	未确定	1 +	1
523092	STEEP1	c.159_160insTA	p.Asp54Ter (p.D54X)	NM_022101.4 M	Ins	致病突变	1 +	1
1029844	STEEP1	c.44G>T	p.Arg15Leu (p.R15L)	NM_022101.4 M	SNV	未确定	1 +	1
2578554	STEEP1	c.79del	p.Leu27fs (p.L27fs)	NM_022101.4 M	Del	可能致病	1 +	1
1803748	STEEP1	c.82_83del	p.Met28fs (p.M28fs)	NM_001170569.1	Del	未确定	1 +	1
1803748	STEEP1	c.229_230del	p.Met77fs (p.M77fs)	NM_001170570.2	Del	未确定	1 +	1
1255437	STEEP1	c.228C>T	p.Gly76= (p.G76=)	NM_001170569.1	SNV	良性突变	1 +	1
1255437	STEEP1	c.333C>T	p.Gly111= (p.G111=)	NM_001170570.2	SNV	良性突变	1 +	1
1255438	STEEP1	c.-256T>C	--	NM_001170569.1	SNV	良性突变	1 +	1
1255438	STEEP1	c.-2T>C	--	NM_001170570.2	SNV	良性突变	1 +	1
1029843	STEEP1	c.11G>T	p.Arg4Leu (p.R4L)	NM_001170569.1	SNV	未确定	1 +	1
1029843	STEEP1	c.158G>T	p.Arg53Leu (p.R53L)	NM_001170570.2	SNV	未确定	1 +	1
523092	STEEP1	c.12_13insTA	p.Asp5Ter (p.D5X)	NM_001170569.1	Ins	致病突变	1 +	1
523092	STEEP1	c.159_160insTA	p.Asp54Ter (p.D54X)	NM_001170570.2	Ins	致病突变	1 +	1
1029844	STEEP1	c.-211G>T	--	NM_001170569.1	SNV	未确定	1 +	1
1029844	STEEP1	c.44G>T	p.Arg15Leu (p.R15L)	NM_001170570.2	SNV	未确定	1 +	1
2578554	STEEP1	c.-176del	--	NM_001170569.1	Del	可能致病	1 +	1

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