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Gene: MFAP5 & Disease: AAT9, 30 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
162199	MFAP5	c.472C>T	p.Arg158Ter (p.R158X)	NM_003480.4 M	SNV	P	1 +	3
	MFAP5	c.442C>T	p.Arg148Ter (p.R148X)	NM_001297709.2	SNV	P	1 +	3
	MFAP5	c.406C>T	p.Arg136Ter (p.R136X)	NM_001297710.2	SNV	P	1 +	3
	MFAP5	c.397C>T	p.Arg133Ter (p.R133X)	NM_001297711.2	SNV	P	1 +	3
	MFAP5	c.280C>T	p.Arg94Ter (p.R94X)	NM_001297712.2	SNV	P	1 +	3
392223	MFAP5	c.410-18G>A	--	NM_003480.4 M	SNV	LB	1 +	2
381191	MFAP5	c.172+5A>G	--	NM_003480.4 M	SNV	B	1 +	2
392223	MFAP5	c.344-18G>A	--	NM_001297710.2	SNV	LB	1 +	2
	MFAP5	c.335-18G>A	--	NM_001297711.2	SNV	LB	1 +	2
	MFAP5	c.218-18G>A	--	NM_001297712.2	SNV	LB	1 +	2
	MFAP5	c.380-18G>A	--	NM_001297709.2	SNV	LB	1 +	2
381191	MFAP5	c.136+5A>G	--	NM_001297710.2	SNV	B	1 +	2
	MFAP5	c.172+5A>G	--	NM_001297711.2	SNV	B	1 +	2
	MFAP5	c.172+5A>G	--	NM_001297712.2	SNV	B	1 +	2
	MFAP5	c.172+5A>G	--	NM_001297709.2	SNV	B	1 +	2
1033583	MFAP5	c.2T>C	p.Met1Thr (p.M1T)	NM_003480.4 M	SNV	P	1 +	1
162200	MFAP5	c.62G>T	p.Trp21Leu (p.W21L)	NM_003480.4 M	SNV	P	1 +	1
2581013	MFAP5	c.264del	p.Lys88fs (p.K88fs)	NM_003480.4 M	Del	LP	1 +	1
1033583	MFAP5	c.2T>C	p.Met1Thr (p.M1T)	NM_001297709.2	SNV	P	1 +	1
1033583	MFAP5	c.2T>C	p.Met1Thr (p.M1T)	NM_001297710.2	SNV	P	1 +	1

共30个结果, 每页展示20条

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