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Gene: FAM161A & Disease: RP28, 223 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
36	FAM161A	c.1309A>T	p.Arg437Ter (p.R437X)	NM_001201543.2 M	SNV	P	4 +	11
36	FAM161A	c.1309A>T	p.Arg437Ter (p.R437X)	NM_032180.3	SNV	P	4 +	11
38	FAM161A	c.1567C>T	p.Arg523Ter (p.R523X)	NM_001201543.2 M	SNV	P	4 +	7
552429	FAM161A	c.1501del	p.Cys501fs (p.C501fs)	NM_001201543.2 M	Del	P	4 +	7
38	FAM161A	c.1567C>T	p.Arg523Ter (p.R523X)	NM_032180.3	SNV	P	4 +	7
552429	FAM161A	c.1501del	p.Cys501fs (p.C501fs)	NM_032180.3	Del	P	4 +	7
35	FAM161A	c.685C>T	p.Arg229Ter (p.R229X)	NM_001201543.2 M	SNV	P	2 +	5
35	FAM161A	c.685C>T	p.Arg229Ter (p.R229X)	NM_032180.3	SNV	P	2 +	5
39	FAM161A	c.1786C>T	p.Arg596Ter (p.R596X)	NM_001201543.2 M	SNV	P	1 +	4
497934	FAM161A	c.1003C>T	p.Arg335Ter (p.R335X)	NM_001201543.2 M	SNV	P	3 +	4
828065	FAM161A	c.943A>T	p.Lys315Ter (p.K315X)	NM_001201543.2 M	SNV	P	1 +	4
236499	FAM161A	c.1464G>A	p.Trp488Ter (p.W488X)	NM_001201543.2 M	SNV	P	2 +	4
953498	FAM161A	c.1584-2A>G	--	NM_001201543.2 M	SNV	LP	1 +	4
39	FAM161A	c.1618C>T	p.Arg540Ter (p.R540X)	NM_032180.3	SNV	P	1 +	4
497934	FAM161A	c.1003C>T	p.Arg335Ter (p.R335X)	NM_032180.3	SNV	P	3 +	4
828065	FAM161A	c.943A>T	p.Lys315Ter (p.K315X)	NM_032180.3	SNV	P	1 +	4
236499	FAM161A	c.1464G>A	p.Trp488Ter (p.W488X)	NM_032180.3	SNV	P	2 +	4
953498	FAM161A	c.1583+714A>G	--	NM_032180.3	SNV	LP	1 +	4
550916	FAM161A	c.1946_1947del	p.Gly649fs (p.G649fs)	NM_001201543.2 M	Del	P	1 +	3
37	FAM161A	c.1355_1356delCA	--	NM_001201543.2 M	Del	P	4 +	3

223 Results, 20 per Page

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