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Gene: CHM & Disease: RP, 12 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
279774	CHM	c.757C>T	p.Arg253Ter (p.R253X)	NM_000390.4 M	SNV	P	2 +	5
	CHM	c.313C>T	p.Arg105Ter (p.R105X)	NM_001320959.1	SNV	P	2 +	5
	CHM	c.313C>T	p.Arg105Ter (p.R105X)	NM_001362517.1	SNV	P	2 +	5
	CHM	c.313C>T	p.Arg105Ter (p.R105X)	NM_001362518.2	SNV	P	2 +	5
	CHM	c.313C>T	p.Arg105Ter (p.R105X)	NM_001362519.1	SNV	P	2 +	5
636009	CHM	c.3G>A	p.Met1Ile (p.M1I)	NM_000390.4 M	SNV	LP	2 +	1
1338868	CHM	c.703dup	p.Leu235fs (p.L235fs)	NM_000390.4 M	Dup	P	2 +	1
636009	CHM	c.3G>A	p.Met1Ile (p.M1I)	NM_001145414.4	SNV	LP	2 +	1
1338868	CHM	c.259dup	p.Leu87fs (p.L87fs)	NM_001320959.1	Dup	P	2 +	1
	CHM	c.259dup	p.Leu87fs (p.L87fs)	NM_001362517.1	Dup	P	2 +	1
	CHM	c.259dup	p.Leu87fs (p.L87fs)	NM_001362518.2	Dup	P	2 +	1
	CHM	c.259dup	p.Leu87fs (p.L87fs)	NM_001362519.1	Dup	P	2 +	1

12 Results, 20 per Page

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