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Gene: PRODH & Disease: HYRPRO1, 605 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
4008	PRODH	c.1322T>C	p.Leu441Pro (p.L441P)	NM_016335.6 M	SNV	P	2 +	10
4008	PRODH	c.998T>C	p.Leu333Pro (p.L333P)	NM_001195226.2	SNV	P	2 +	10
2201654	PRODH	c.1104+2T>C	--	NM_016335.6 M	SNV	LP	1 +	4
702852	PRODH	c.1217C>T	p.Pro406Leu (p.P406L)	NM_016335.6 M	SNV	LP	2 +	4
1466893	PRODH	c.930-1G>C	--	NM_016335.6 M	SNV	LP	2 +	4
2201654	PRODH	c.780+2T>C	--	NM_001195226.2	SNV	LP	1 +	4
2201654	PRODH	c.780+2T>C	--	NM_001368250.2	SNV	LP	1 +	4
702852	PRODH	c.893C>T	p.Pro298Leu (p.P298L)	NM_001195226.2	SNV	LP	2 +	4
1466893	PRODH	c.606-1G>C	--	NM_001195226.2	SNV	LP	2 +	4
1466893	PRODH	c.606-1G>C	--	NM_001368250.2	SNV	LP	2 +	4
2134144	PRODH	c.379C>T	p.Gln127Ter (p.Q127X)	NM_016335.6 M	SNV	P	1 +	3
1425627	PRODH	c.522_526dup	p.Lys176fs (p.K176fs)	NM_016335.6 M	Dup	P	1 +	3
1399310	PRODH	c.236T>A	p.Leu79Ter (p.L79X)	NM_016335.6 M	SNV	P	1 +	3
2167860	PRODH	c.457del	p.Glu153fs (p.E153fs)	NM_016335.6 M	Del	P	1 +	3
1998253	PRODH	c.969_972del	p.Ser323fs (p.S323fs)	NM_016335.6 M	Del	P	1 +	3
2021179	PRODH	c.323del	p.Leu108fs (p.L108fs)	NM_016335.6 M	Del	P	1 +	3
1974075	PRODH	c.543C>A	p.Tyr181Ter (p.Y181X)	NM_016335.6 M	SNV	P	1 +	3
4006	PRODH	c.1357C>T	p.Arg453Cys (p.R453C)	NM_016335.6 M	SNV	P	2 +	3
4013	PRODH	c.1397C>T	p.Thr466Met (p.T466M)	NM_016335.6 M	SNV	P	2 +	3
2166769	PRODH	c.38dup	p.Cys13fs (p.C13fs)	NM_016335.6 M	Dup	P	1 +	3

605 Results, 20 per Page

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