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Gene: CEP104 & Disease: JBTS1, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1309193	CEP104	c.1003C>T	p.Gln335Ter (p.Q335X)	NM_014704.4 M	SNV	P	2 +	2
1343654	CEP104	c.1051_1054del	p.Thr351fs (p.T351fs)	NM_014704.4 M	Del	LP	1 +	0
1878385	CEP104	c.1485+1G>A	--	NM_014704.4 M	SNV	LP	1 +	0
1704568	CEP104	c.2286del	p.Glu762fs (p.E762fs)	NM_014704.4 M	Del	LP	1 +	0
1723240	CEP104	c.928dup	p.Ala310fs (p.A310fs)	NM_014704.4 M	Dup	LP	1 +	0
1723276	CEP104	c.162T>A	p.Cys54Ter (p.C54X)	NM_014704.4 M	SNV	LP	1 +	0
1723370	CEP104	c.182del	p.Leu61fs (p.L61fs)	NM_014704.4 M	Del	LP	1 +	0
1677239	CEP104	c.1867_1870del	p.Tyr623fs (p.Y623fs)	NM_014704.4 M	Del	LP	1 +	0

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