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Gene: C9 & Disease: C9D, 19 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
17040	C9	c.346C>T	p.Arg116Ter (p.R116X)	NM_001737.5 M	SNV	P	1 +	6
17041	C9	c.162C>A	p.Cys54Ter (p.C54X)	NM_001737.5 M	SNV	P	2 +	6
17043	C9	c.1280C>G	p.Ser427Ter (p.S427X)	NM_001737.5 M	SNV	P	1 +	3
402245	C9	c.577del	p.Tyr193fs (p.Y193fs)	NM_001737.5 M	Del	P	1 +	3
1033862	C9	c.1038_1042delinsT	p.Ser347fs (p.S347fs)	NM_001737.5 M	Indel	P	2 +	2
973622	C9	c.375C>A	p.Cys125Ter (p.C125X)	NM_001737.5 M	SNV	P	1 +	2
1457531	C9	c.1039_1042del	p.Ser347fs (p.S347fs)	NM_001737.5 M	Del	P	2 +	2
1029525	C9	c.460C>T	p.Arg154Ter (p.R154X)	NM_001737.5 M	SNV	P	1 +	2
1455046	C9	c.1184_1185del	p.Ser395fs (p.S395fs)	NM_001737.5 M	MS	P	2 +	2
1324000	C9	c.580C>T	p.Arg194Ter (p.R194X)	NM_001737.5 M	SNV	P	1 +	2
17042	C9	c.355T>G	p.Cys119Gly (p.C119G)	NM_001737.5 M	SNV	P	2 +	1
29659	C9	c.1583G>A	p.Cys528Tyr (p.C528Y)	NM_001737.5 M	SNV	P	1 +	1
2500114	C9	c.1346T>C	p.Val449Ala (p.V449A)	NM_001737.5 M	SNV	VUS	2 +	0
830026	C9	c.1677del	p.Lys559fs (p.K559fs)	NM_001737.5 M	Del	VUS	2 +	0
1033863	C9	c.409G>A	p.Glu137Lys (p.E137K)	NM_001737.5 M	SNV	VUS	1 +	0
1299281	C9	c.974C>T	p.Ala325Val (p.A325V)	NM_001737.5 M	SNV	LB	2 +	0
1581502	C9	c.1585G>A	p.Ala529Thr (p.A529T)	NM_001737.5 M	SNV	LB	2 +	0
1546178	C9	c.1451T>A	p.Met484Lys (p.M484K)	NM_001737.5 M	SNV	LB	2 +	0
522196	C9	c.133A>T	p.Met45Leu (p.M45L)	NM_001737.5 M	SNV	LB	1 +	0

19 Results, 20 per Page

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