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Gene: PEX19 & Disease: PBD12A, 694 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1067988	PEX19	c.346+1G>A	--	NM_002857.4 M	SNV	LP	1 +	4
2122971	PEX19	c.70+2T>G	--	NM_002857.4 M	SNV	LP	1 +	4
1066259	PEX19	c.346+2T>C	--	NM_002857.4 M	SNV	LP	1 +	4
1066362	PEX19	c.181-2A>G	--	NM_002857.4 M	SNV	LP	1 +	4
1067988	PEX19	c.346+1G>A	--	NM_001193644.1	SNV	LP	1 +	4
2122971	PEX19	c.70+2T>G	--	NM_001193644.1	SNV	LP	1 +	4
1066259	PEX19	c.346+2T>C	--	NM_001193644.1	SNV	LP	1 +	4
1066362	PEX19	c.181-2A>G	--	NM_001193644.1	SNV	LP	1 +	4
1444009	PEX19	c.398dup	p.Ser134fs (p.S134fs)	NM_002857.4 M	Dup	P	1 +	3
2011554	PEX19	c.9del	p.Ala4fs (p.A4fs)	NM_002857.4 M	Del	P	1 +	3
1385253	PEX19	c.294del	p.Glu98fs (p.E98fs)	NM_002857.4 M	Del	P	1 +	3
2088255	PEX19	c.526C>T	p.Gln176Ter (p.Q176X)	NM_002857.4 M	SNV	P	1 +	3
1444009	PEX19	c.398dup	p.Ser134fs (p.S134fs)	NM_001193644.1	Dup	P	1 +	3
2011554	PEX19	c.9del	p.Ala4fs (p.A4fs)	NM_001193644.1	Del	P	1 +	3
1385253	PEX19	c.294del	p.Glu98fs (p.E98fs)	NM_001193644.1	Del	P	1 +	3
2088255	PEX19	c.526C>T	p.Gln176Ter (p.Q176X)	NM_001193644.1	SNV	P	1 +	3
293233	PEX19	c.181-15A>G	--	NM_002857.4 M	SNV	LB	1 +	2
2171775	PEX19	c.432+3G>A	--	NM_002857.4 M	SNV	VUS	1 +	2
1377291	PEX19	c.70+5G>C	--	NM_002857.4 M	SNV	VUS	1 +	2
1445449	PEX19	c.771+5G>A	--	NM_002857.4 M	SNV	VUS	1 +	2

共694个结果, 每页展示20条

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