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Gene: COX20 & Disease: MC4DN11, 110 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
383938	COX20	c.41A>G	p.Lys14Arg (p.K14R)	NM_198076.6 M	SNV	P	1 +	6
	COX20	c.41A>G	p.Lys14Arg (p.K14R)	NM_001312871.1	SNV	P	1 +	6
	COX20	c.41A>G	p.Lys14Arg (p.K14R)	NM_001312872.1	SNV	P	1 +	6
	COX20	c.41A>G	p.Lys14Arg (p.K14R)	NM_001312874.1	SNV	P	1 +	6
	COX20	c.22+19A>G	--	NM_001312873.1	SNV	P	1 +	6
380082	COX20	c.157+3G>C	--	NM_198076.6 M	SNV	P	2 +	5
	COX20	c.157+3G>C	--	NM_001312871.1	SNV	P	2 +	5
	COX20	c.157+3G>C	--	NM_001312874.1	SNV	P	2 +	5
	COX20	c.23-134G>C	--	NM_001312873.1	SNV	P	2 +	5
	COX20	c.193+3G>C	--	NM_001312872.1	SNV	P	2 +	5
1339430	COX20	c.222G>T	p.Trp74Cys (p.W74C)	NM_198076.6 M	SNV	P	1 +	2
1339433	COX20	c.259C>T	p.Gln87Ter (p.Q87X)	NM_198076.6 M	SNV	P	1 +	2
55889	COX20	c.154A>C	p.Thr52Pro (p.T52P)	NM_198076.6 M	SNV	P	1 +	2
382376	COX20	c.222-3A>C	--	NM_198076.6 M	SNV	LB	1 +	2
1339430	COX20	c.222G>T	p.Trp74Cys (p.W74C)	NM_001312871.1	SNV	P	1 +	2
	COX20	c.258G>T	p.Trp86Cys (p.W86C)	NM_001312872.1	SNV	P	1 +	2
	COX20	c.87G>T	p.Trp29Cys (p.W29C)	NM_001312873.1	SNV	P	1 +	2
	COX20	c.*32G>T	--	NM_001312874.1	SNV	P	1 +	2
1339433	COX20	c.259C>T	p.Gln87Ter (p.Q87X)	NM_001312871.1	SNV	P	1 +	2
1339433	COX20	c.295C>T	p.Gln99Ter (p.Q99X)	NM_001312872.1	SNV	P	1 +	2

110 Results, 20 per Page

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