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Gene: TTI1 & Disease: NEDMIM, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
402171	TTI1	c.2761G>A	p.Asp921Asn (p.D921N)	NM_001303457.2 M	SNV	P	1 +	2
402171	TTI1	c.2761G>A	p.Asp921Asn (p.D921N)	NM_014657.3	SNV	P	1 +	2
2573168	TTI1	c.835T>G	p.Trp279Gly (p.W279G)	NM_001303457.2 M	SNV	P	1 +	1
2573166	TTI1	c.2300T>C	p.Leu767Ser (p.L767S)	NM_001303457.2 M	SNV	P	1 +	1
2573167	TTI1	c.2302+1G>T	--	NM_001303457.2 M	SNV	P	1 +	1
2573169	TTI1	c.2978T>G	p.Leu993Arg (p.L993R)	NM_001303457.2 M	SNV	P	1 +	1
2573168	TTI1	c.835T>G	p.Trp279Gly (p.W279G)	NM_014657.3	SNV	P	1 +	1
2573166	TTI1	c.2300T>C	p.Leu767Ser (p.L767S)	NM_014657.3	SNV	P	1 +	1
2573167	TTI1	c.2302+1G>T	--	NM_014657.3	SNV	P	1 +	1
2573169	TTI1	c.2978T>G	p.Leu993Arg (p.L993R)	NM_014657.3	SNV	P	1 +	1

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